Supp. Table S5. Paralogous Annotation applied reciprocally to nine epilepsy genes that are homologous to LQT genes.
To demonstrate the wider applicability of paralogous annotation beyond LQT genes we have used the same method to annotate epilepsy genes. Many of the paralogues of LQT genes identified in this study cause neurological disease that may be attributable to changes in membrane stability due to ion channel dysfunction. For example, we noted that paralogues of LQT genes account for more than half of epilepsy-related variants reported in HGMD. For 9 epilepsy genes listed below we used sites of known disease-causing variation in paralogues, including LQT genes, to identify variants that we predict would be intolerant of variation in epilepsy genes, using the same multiple-sequence alignments previously described. Where paralogue annotation identifies a residue associated with a known phenotype we see an enrichment of disease-causing residues, as for LQT syndrome (p=0.0033, Fisher's exact, two-tailed).
For each gene, the protein residue number and reference allele are shown, followed by details of known variation at that residue. Known variants are classified as “Epilepsy” (reported to cause to an inherited seizure syndrome), “Other Disease Phenotype” (reported either as a "possible" cause of inherited seizures, or as a cause of another neurological phenotype, such as migraine or a pain syndrome), “Benign”, “Probably Benign”, or “Conflict” (where sources disagree). “None” indicates that no variants have been reported at this position. Pubmed identifiers are given in brackets for primary references, together with dbSNP identifiers where available.
Where a disease-causing variant in a paralogue maps to an epilepsy protein residue, the paralogue gene and transcript ID are given, followed by details of the disease, variant and Pubmed identifiers for primary references. The consensus score (0-9) indicates the strength of agreement of different multiple-sequence alignment algorithms at that residue – a high score suggests confidence in the alignment at that position. Alignments (generated using M-Coffee) are available as supplementary files, accessible via the hyperlinks below.
KCNQ2 (paralogue of LQTS gene KCNQ1) | View alignment | ||||
Gene | Residue | Known Variants in KCNQ2 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
---|---|---|---|---|---|
KCNQ2 | 1-M | Epilepsy - Epilepsy, benign neonatal (p.M1T - 14985406, p.M1V - 14985406) | 1 | KCNQ1 NM_000218 | Long QT syndrome & atrial fibrillation (p.P7S - 18452873) |
KCNQ2 | 48-P | None | 9 | KCNQ1 NM_000218 | Long QT syndrome ? (p.G57V - 17470695) |
KCNQ2 | 55-S | None | 8 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.P178L - 17896311) |
KCNQ2 | 68-P | None | 5 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.C198S - 17896311) |
KCNQ2 | 81-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V110I - 21164565) |
KCNQ2 | 82-Y | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y111C - 10973849) |
KCNQ2 | 85-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L114P - 12402336) |
KCNQ2 | 86-E | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E115G - 15840476) |
KCNQ2 | 88-P | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.P117L - 11684219) |
KCNQ2 | 90-G | None | 9 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.S256W - 16909397) |
KCNQ2 | 92-A | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.C122Y - 15840476) |
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.A259V - 16909397) | ||||
KCNQ2 | 97-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F127L - 19716085) |
KCNQ2 | 100-F | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V174F - 7842011) |
KCNQ2 | 102-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I132L - 19862833) |
KCNQ2 | 103-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V133I - 12877697) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.I177N - 9600245) | ||||
KCNQ2 | 104-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L134P - 19716085) |
KCNQ2 | 106-C | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.C136F - 15840476) |
KCNQ2 | 107-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L137F - 16414944) |
KCNQ2 | 110-S | None | 9 | KCNQ1 NM_000218 | Atrial fibrillation (p.S140G - 12522251) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F184C - 8541859) | ||||
KCNQ2 | 111-V | None | 9 | KCNQ1 NM_000218 | Atrial fibrillation (p.V141M - 16109388) |
KCNQ2 | 114-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T144A - 14678125) |
KCNQ2 | 116-K | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E146K - 16414944) |
KCNQ2 | 117-E | None | 9 | KCNQ1 NM_000218 | Atrial fibrillation (p.Q147R - 17997361) |
KCNQ2 | 119-E | Epilepsy - Epilepsy, benign neonatal (p.E119G - 18006581) | 8 | ||
KCNQ2 | 120-K | None | 4 | KCNQ1 NM_000218 | Long QT syndrome (p.A150G - 19862833) |
KCNQ2 | 122-S | Epilepsy - Epilepsy, benign neonatal (p.S122L - 16916607) | 4 | ||
KCNQ2 | 123-E | None | 5 | KCNQ1 NM_000218 | Long QT syndrome (p.T153M - 19716085) |
KCNQ2 | 127-Y | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.F157C - 10220146) |
KCNQ2 | 130-E | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E160K - 10973849, p.E160V - 19716085) |
KCNQ2 | 131-I | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.T226A - 9600245, p.T226R - 10355668, p.T226M - 8871592) Myokymia (p.T226K - 17136396) |
KCNQ2 | 132-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V162M - 19716085) |
KCNQ2 | 138-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G168R - 9693036/9386136) |
KCNQ2 | 139-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T169R - 19862833) |
KCNQ2 | 142-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V172M - 14678125) |
KCNQ2 | 143-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V173D - 16414944) |
KCNQ2 | 144-R | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R174C - 9386136, p.R174H - 10973849, p.R174P - 16414944) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.R239S - 7842011) | ||||
KCNQ2 | 148-A | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.A178P - 8528244, p.A178T - 9024139) |
KCNQ2 | 149-G | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.G179S - 10973849) |
KCNQ2 | 153-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.K183R - 20541041) |
KCNQ2 | 154-Y | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.Y184H - 19716085, p.Y184S - 10220144) |
KCNQ2 | 156-G | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.G186R - 19716085, p.G186S - 17470695) |
KCNA1 NM_000217 | Epilepsy partial and myokymia (p.A242P - 11026449) | ||||
KCNQ2 | 157-W | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.L187P - 18808722) |
KCNQ2 | 158-R | None | 8 | KCNA1 NM_000217 | Myokymia (p.P244H - 11026449) |
KCNQ2 | 159-G | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.G189R - 8528244) Long QT syndrome ? (p.G189E - 17470695) |
KCNQ2 | 160-R | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.R190Q - 8528244, p.R190L - 19716085, p.R190W - 16414944) |
KCNQ2 | 161-L | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.L191P - 12442276) |
KCNQ2 | 162-K | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.R192H - 16922724, p.R192P - 16414944) |
KCNQ2 | 163-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F193L - 12653681) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F249I - 7842011) | ||||
KCNQ2 | 164-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A194P - 10973849) |
KCNQ2 | 165-R | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R195W - 19716085) |
KCNQ2 | 168-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I198V - 19716085) |
KCNQ2 | 169-C | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.S199A - 19716085) |
KCNA1 NM_000217 | Hypomagnesemia (p.N255D - 19307729) | ||||
KCNQ2 | 172-D | None | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.D202N - 12051962) Long QT syndrome (p.D202H - 15176425) |
KCNQ2 | 174-M | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I204M - 16414944, p.I204F - 15840476) |
KCNQ2 | 175-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V205M - 18580685) |
KCNQ2 | 176-L | None | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.F182L - 17033161) |
KCNA1 NM_000217 | Episodic ataxia (p.I262T - 15127317) | ||||
KCNQ2 | 177-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome ? (p.V207M - 19198868) |
KCNQ2 | 179-S | None | 8 | KCNQ1 NM_000218 | Atrial fibrillation (p.S209P - 19632626) Long QT syndrome (p.S209F - 16414944) |
KCNQ2 | 185-A | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.V215M - 16414944) |
KCNQ2 | 194-T | None | 6 | KCNQ1 NM_000218 | Long QT syndrome (p.T224M - 19716085) |
KCNQ2 | 195-S | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.S225L - 9927399) |
KCNQ2 | 196-A | Epilepsy - Epilepsy, benign neonatal (p.A196V - 17475800) | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.A226V - 15234419) |
KCNQ2 | 199-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G229D - 19165230) |
KCNQ2 | 201-R | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R231C - 12205790, p.R231H - 16414944) |
KCNQ2 | 204-Q | None | 9 | KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.R420H - 16501573) |
KCNQ2 | 205-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I235N - 15466642) |
KCNA1 NM_000217 | Episodic ataxia (p.V299I - 19770477) | ||||
KCNQ2 | 207-R | Epilepsy - Epilepsy, benign neonatal (p.R207W - 11572947) Peripheral nerve hyperexcitability (p.R207Q - 17872363) | 9 | KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.R423H - 19953606) |
KCNQ2 | 208-M | Epilepsy - Epilepsy, benign neonatal (p.M208V - 14534157) | 9 | ||
KCNQ2 | 209-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L239P - 16414944) |
KCNQ2 | 211-M | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V241G - 19716085) |
KCNA1 NM_000217 | Episodic ataxia (p.L305F - 16511644) | ||||
KCNQ2 | 212-D | Epilepsy - Epilepsy, benign neonatal (p.D212G - 19344764) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.D242N - 9799083, p.D242Y - 19490272) |
KCNQ2 | 213-R | Epilepsy - Epilepsy, benign neonatal (p.R213W - 18353052) | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.R243H - 10090886) Long QT syndrome (p.R243C - 10409658, p.R243P - 16922724, p.R243S - 19490272) |
KCNA1 NM_000217 | Episodic ataxia 1 (p.R307C - 20660867) | ||||
KCNQ2 | 214-R | Epilepsy - Epilepsy, benign neonatal (p.R214W - 11175290) | 9 | ||
KCNQ2 | 217-T | None | 9 | KCNA1 NM_000217 | Episodic ataxia (p.G311S - 9714564) |
KCNQ2 | 218-W | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.W248R - 10409658, p.W248C - 15176425) |
KCNQ2 | 220-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L250H - 9799083, p.L250P - 19716085) |
KCNQ2 | 221-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L251P - 10874277) |
KCNQ2 | 224-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V254L - 16414944, p.V254M - 8528244) |
KCNQ2 | 228-H | Epilepsy - Epilepsy, benign neonatal (p.H228Q - 14534157) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.H258R - 16414944, p.H258N - 16414944, p.H258P - 20541041) |
KCNQ2 | 229-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R259C - 11021476, p.R259H - 16922724, p.R259L - 15466642) |
KCNQ2 | 231-E | None | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.E261D - 10704188) Long QT syndrome (p.E261Q - 19716085, p.E261K - 9386136) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.E325D - 8541859) | ||||
KCNQ2 | 232-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L262V - 16414944) |
KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.F448L - 16501573) | ||||
KCNQ2 | 235-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T265I - 17905336) |
KCNA1 NM_000217 | Episodic ataxia (p.L329I - 11013453) | ||||
KCNQ2 | 236-W | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L266P - 10973849) |
KCNQ2 | 238-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I268S - 19716085) |
KCNQ2 | 239-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G269D - 9386136, p.G269S - 10560595) |
KCNQ2 | 242-C | None | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.G272D - 11140949) Long QT syndrome (p.G272V - 20541041) |
KCNQ2 | 243-L | Epilepsy - Epilepsy, benign neonatal (p.L243F - 14534157) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L273R - 15840476, p.L273F - 8528244) |
KCNQ2 | 244-I | None | 9 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.I274V - 17210839) |
KCNQ2 | 245-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F275S - 12442276) |
KCNQ2 | 247-S | Epilepsy - Epilepsy, benign neonatal (p.S247W - 12742592) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.S277L - 12442276, p.S277P - 19716085, p.S277W - 16414944) |
KCNQ2 | 248-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y278H - 15466642) |
KCNA1 NM_000217 | Episodic ataxia (p.S342I - 15532032) | ||||
KCNQ2 | 250-V | Epilepsy - Epilepsy, benign neonatal (p.V250G - 11690625) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V280E - 16414944) |
KCNQ2 | 251-Y | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y281C - 9927399) |
KCNQ2 | 252-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L282P - 19716085) |
KCNQ2 | 253-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A283G - 19716085) |
KCNQ2 | 254-E | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E284K - 14678125) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.E260K - 18941426) | ||||
KCNQ2 | 256-G | None | 8 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.D262V - 18941426) |
KCNQ2 | 257-E | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.A287E - 16414944) |
KCNQ2 | 258-N | Epilepsy - Epilepsy, benign neonatal (p.N258S - 18246739) | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.R293C - 15466642) |
KCNQ2 | 260-H | None | 9 | KCNQ3 NM_004519 | Epilepsy, rolandic & benign neonatal convulsions (p.E299K - 18625963) |
KCNQ2 | 261-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome ? (p.F296S - 17470695) |
KCNQ2 | 265-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A300T - 9641694) |
KCNQ2 | 266-D | None | 9 | KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.D305G - 14534157) |
KCNQ2 | 267-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A302E - 19716085, p.A302T - 16414944, p.A302V - 15466642) |
KCNQ2 | 268-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L303P - 19716085) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.L274H - 10925378) | ||||
KCNQ2 | 269-W | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.W304R - 15840476) |
KCNQ2 | 270-W | None | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.W305S - 9781056) Long QT syndrome (p.W305R - 19716085) |
KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.W309R - 10852552) | ||||
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.W276S - 10369879) | ||||
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.W450G - 17896311) | ||||
KCNQ2 | 271-G | Other Disease Phenotype - Infantile seizures (p.G271V - 16691402, rs118192209) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G306R - 19716085/8528244, p.G306V - 12442276) |
KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.G310V - 9425900) | ||||
KCNQ2 | 272-L | None | 9 | KCNQ1 NM_000218 | Short QT syndrome (p.V307L - 15159330) |
KCNQ2 | 273-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V308D - 16414944) |
KCNQ2 | 274-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T309R - 9386136, p.T309I - 11802537) |
KCNQ2 | 275-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V310I - 10973849) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.L281S - 10571947) | ||||
KCNQ2 | 276-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T311A - 20541041, p.T311I - 9482580) |
KCNQ2 | 277-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T312I - 8528244) |
KCNQ2 | 278-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I313M - 9024139) |
KCNQ2 | 279-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G314A - 15234419, p.G314R - 15840476, p.G314D - 15466642, p.G314C - 12702160, p.G314S - 8872472) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G285C - 10369879, p.G285S - 10025409) | ||||
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.G459D - 16909397) | ||||
KCNQ2 | 280-Y | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y315C - 9693036, p.Y315F - 19841300, p.Y315S - 9386136) |
KCNQ2 | 281-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G316R - 15840476/12402336, p.G316E - 16414944, p.G316V - 19716085) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G287R - 21242547) | ||||
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.G461R - 17896311) | ||||
KCNQ2 | 282-D | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.D317N - 9302275, p.D317G - 14678125, p.D317Y - 20541041) |
KCNQ2 | 283-K | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.K318N - 9693036) |
KCNQ2 | 284-Y | Epilepsy - Epilepsy, benign neonatal (p.Y284C - 9425895) | 9 | ||
KCNQ2 | 285-P | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.P320A - 9386136, p.P320S - 19716085) Long QT syndrome ? (p.P320H - 17470695) |
KCNQ2 | 287-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T322A - 12877697, p.T322K - 19862833, p.T322M - 16414944) |
KCNQ2 | 290-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G325R - 9024139) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G296S - 18030493) | ||||
KCNQ2 | 291-R | None | 9 | KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.R330C - 16883520) |
KCNQ2 | 294-A | Epilepsy - Epilepsy, benign neonatal (p.A294G - 17129708) | 9 | ||
KCNQ2 | 303-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.S338F - 19862833) |
KCNQ2 | 304-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F339S - 17224687, p.F339Y - 19716085) |
KCNQ2 | 306-A | Epilepsy - Epilepsy, benign neonatal (p.A306T - 9425895) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A341E - 8528244, p.A341G - 19716085, p.A341V - 8528244) |
KCNQ2 | 307-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L342F - 9386136) |
KCNQ2 | 308-P | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.P343R - 16414944, p.P343L - 16414944, p.P343S - 15511625) |
KCNQ2 | 309-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A344E - 15234419, p.A344V - 9386136) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V404I - 9600245) | ||||
KCNQ2 | 310-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G345R - 9272155, p.G345E - 8528244) |
KCNQ2 | 313-G | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V408A - 7842011) Episodic ataxia with cerebellar dysfunction & cognitive delay (p.V408L - 19205071) |
KCNQ2 | 314-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.S349P - 16414944, p.S349W - 10973849) |
KCNQ2 | 315-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G350R - 19716085/16414944) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G321S - 10369879) | ||||
KCNQ2 | 316-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F351S - 16414944) |
KCNQ2 | 318-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L353P - 9693036) |
KCNQ2 | 319-K | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.K354R - 19716085) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F414C - 18926884) Episodic ataxia 1 (p.F414S - 20660867) | ||||
KCNQ2 | 322-E | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.Q357R - 12702160) |
KCNQ2 | 324-H | None | 7 | KCNA5 NM_002234 | Atrial fibrillation (p.T527M - 19343045) |
KCNQ2 | 325-R | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.R360M - 19716085, p.R360T - 16414944) Long QT syndrome ? (p.R360G - 17470695) |
KCNQ2 | 327-K | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.K362R - 15840476) |
KCNQ2 | 328-H | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.H363N - 19862833) |
KCNQ2 | 330-E | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.N365H - 19716085) |
KCNQ2 | 331-K | None | 6 | KCNQ1 NM_000218 | Long QT syndrome (p.R366Q - 10973849, p.R366P - 9024139, p.R366W - 9693036) |
KCNQ2 | 332-R | None | 6 | KCNQ1 NM_000218 | Long QT syndrome (p.Q367H - HGOL) |
KCNQ2 | 333-R | Epilepsy - Epilepsy, benign neonatal (p.R333Q - 14534157, p.R333W - 16039833) | 4 | ||
KCNQ2 | 336-A | None | 4 | KCNQ1 NM_000218 | Long QT syndrome (p.A371T - 9386136) |
KCNQ2 | 337-A | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.A372D - 16414944) |
KCNQ2 | 338-G | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.S373P - 10220144) |
KCNQ2 | 339-L | Epilepsy - Epilepsy, benign neonatal (p.L339R - 11690625) | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.L374H - 15840476) |
KCNQ2 | 342-S | None | 2 | KCNQ3 NM_004519 | Epilepsy, rolandic without neonatal seizures (p.A381V - 18625963) |
KCNQ2 | 344-W | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.W379G - 19716085, p.W379S - 12566525) Sudden infant death syndrome (p.W379R - 17222736) |
KCNQ2 | 345-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R380G - 19841298, p.R380S - 15840476) |
KCNQ2 | 350-N | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.E385K - 19716085) |
KCNQ2 | 353-R | Epilepsy - Epilepsy, benign neonatal (p.R353G - 14985406) | 1 | ||
KCNQ2 | 357-H | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.S389P - 19716085, p.S389Y - 15840476) |
KCNQ2 | 359-T | Epilepsy - Epilepsy, benign neonatal (p.T359K - 19559753) | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.T391I - 10973849) |
KCNQ2 | 360-W | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.W392R - 10220144) |
KCND3 NM_004980 | Brugada syndrome (p.L450F - 21349352) | ||||
KCNQ2 | 361-Q | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.K393N - 17470695, p.K393M - 16414944) |
KCNQ2 | 365-R | None | 1 | KCNQ1 NM_000218 | Long QT syndrome ? (p.R397W - 17470695) |
KCNQ2 | 366-T | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.K398R - 19716085) |
KCNQ2 | 367-V | Probably Benign - (p.V367I - rs149523683) | 1 | ||
KCNQ2 | 420-P | Probably Benign - (p.P420L - rs139164500) | 0 | ||
KCNQ2 | 430-P | Probably Benign - (p.P430S - rs118192224) | 1 | ||
KCNQ2 | 442-R | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.K422T - 20541041) |
KCNQ2 | 450-V | Probably Benign - (p.V450M - rs146492238) | 1 | ||
KCNQ2 | 466-S | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.D446E - 19716085) |
KCNQ2 | 468-S | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.P448L - 19716085) Long QT syndrome ? (p.P448R - 10973849) |
KCNQ2 | 471-Q | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.R451Q - 15234419, p.R451W - 19716085) |
KCNQ2 | 472-S | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.R452W - 15840476) |
KCNQ2 | 482-K | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.H455Y - 17905336) |
KCNQ2 | 485-S | None | 1 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.G460S - 17210839) |
KCNQ2 | 499-K | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.P477L - 19716085) |
KCNQ2 | 506-N | None | 1 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 ? (p.T501T - 17033161) |
KCNQ2 | 515-E | Conflict - Epilepsy, benign neonatal (p.E515D - 19380078, rs117067974) | 1 | ||
KCNQ2 | 517-I | Probably Benign - (p.I517V - rs143844949) | 1 | ||
KCNQ2 | 537-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R511W - 19716085) |
KCNQ2 | 540-I | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.I514T - HGOL) |
KCNQ2 | 543-V | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.I517T - 15234419) |
KCNQ2 | 544-C | Probably Benign - (p.C544S - rs118192232) | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R518Q - 19716085, p.R518G - 16414944, p.R518P - 16414944) |
KCNQ2 | 545-V | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R519C - 12566525) |
KCNQ2 | 546-M | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.M520R - 17482572) |
KCNQ2 | 548-F | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.Y522S - 19716085) |
KCNQ2 | 550-V | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.V524G - 14678125) |
KCNQ2 | 551-S | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.A525T - 10482963, p.A525V - 15234419) |
KCNQ2 | 552-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.K526E - 15840476) |
KCNQ2 | 553-R | Epilepsy - Epilepsy, benign neonatal (p.R553Q - 11690625) | 2 | ||
KCNQ2 | 554-K | Epilepsy - Epilepsy, benign neonatal (p.K554N - 15249611) | 1 | ||
KCNQ2 | 559-L | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R533W - 10728423) |
KCNQ2 | 565-M | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R539Q - 19716085, p.R539W - 9312006) |
KCNQ2 | 567-V | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.V541I - 19716085) |
KCNQ2 | 569-E | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.E543K - 19716085) |
KCNQ2 | 572-S | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.S546L - 15466642) |
KCNQ2 | 573-A | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.Q547R - 19716085) |
KCNQ2 | 574-G | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G548D - 16414944) |
KCNQ2 | 580-S | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.V554A - 16414944) |
KCNQ2 | 581-R | Probably Benign - (p.R581Q - rs118192235) | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R555C - 9386136, p.R555H - 14998624, p.R555S - 19716085) |
KCNQ2 | 583-K | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.K557E - 12402336) |
KCNQ2 | 588-R | Probably Benign - (p.R588S - rs118192237) | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R562M - 12566525) |
KCNQ2 | 592-I | Epilepsy - Epilepsy, rolandic without neonatal seizures (p.I592M - 18625963) | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.S566F - 10973849, p.S566P - 19716085, p.S566Y - 15840476) |
KCNQ2 | 593-V | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.I567S - 14678125, p.I567T - 16414944) |
KCNQ2 | 594-G | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G568A - 12702160, p.G568R - 15840476) |
KCNQ2 | 595-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.K569E - 19716085) |
KCNQ3 NM_004519 | Epilepsy, rolandic without neonatal seizures (p.P574S - 18625963) | ||||
KCNQ2 | 597-P | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.S571L - 19716085) |
KCNQ2 | 599-I | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.F573L - 16414944) |
KCNQ2 | 608-P | Probably Benign - (p.P608L - rs140217688) | 2 | ||
KCNQ2 | 614-P | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R583C - 10973849, p.R583H - 15851171) |
KCNQ2 | 615-E | None | 4 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.G584S - 17222736) |
KCNQ2 | 617-P | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.N586D - 16414944) |
KCNQ2 | 618-S | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.T587M - 9799083) |
KCNQ2 | 620-M | None | 5 | KCNQ1 NM_000218 | Long QT syndrome (p.G589D - 10483966) |
KCNQ2 | 621-G | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.A590T - 14998624) |
KCNQ2 | 622-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R591H - 10024302) Long QT syndrome ? (p.R591C - 17470695) |
KCNQ2 | 625-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R594Q - 10973849, p.R594P - 17224687) |
KCNQ2 | 627-E | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.E596K - 19716085) |
KCNQ2 | 629-Q | None | 3 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.K598R - 18596570) |
KCNQ2 | 631-L | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.T600M - 19716085) |
KCNQ2 | 633-M | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.L602P - 20541041) |
KCNQ2 | 637-L | Epilepsy - Epilepsy, benign neonatal (p.L637R - 14985406) | 2 | ||
KCNQ2 | 642-N | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.D611N - 19716085, p.D611Y - 12808265) |
KCNQ2 | 650-I | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.L619M - 15840476) |
KCNQ2 | 666-P | Probably Benign - (p.P666L - rs143225904) | 1 | ||
KCNQ2 | 669-P | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G626S - 15840476) |
KCNQ2 | 673-P | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.P630A - 17905336) |
KCNQ2 | 678-E | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G635R - 19716085) |
KCNQ2 | 755-Y | Probably Benign - (p.Y755C - rs3746366) | 1 | ||
KCNQ2 | 777-P | Probably Benign - (p.P777R - rs142729516) | 1 | ||
KCNQ2 | 780-N | Benign - (p.N780T - rs1801475) | 2 | ||
KCNQ2 | 789-S | Probably Benign - (p.S789A - rs147423925) | 1 | ||
KCNQ2 | 814-L | Probably Benign - (p.L814R - rs77773377) | 1 | ||
KCNQ2 | 855-S | Probably Benign - (p.S855L - rs12481082) | 1 | ||
KCNQ3 (paralogue of LQTS gene KCNQ1) | View alignment | ||||
Gene | Residue | Known Variants in KCNQ3 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
KCNQ3 | 1-M | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.M1T - 14985406, p.M1V - 14985406) |
KCNQ1 NM_000218 | Long QT syndrome & atrial fibrillation (p.P7S - 18452873) | ||||
KCNQ3 | 8-A | None | 2 | KCNQ1 NM_000218 | Atrial fibrillation, susceptibility to ? (p.R14C - 17276182) |
KCNQ3 | 75-D | Probably Benign - (p.D75E - rs138254004) | 8 | ||
KCNQ3 | 81-T | Probably Benign - (p.T81N - rs77663285) | 8 | ||
KCNQ3 | 83-Q | None | 8 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.P178L - 17896311) |
KCNQ3 | 98-K | Probably Benign - (p.K98R - rs143194379) | 5 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.C198S - 17896311) |
KCNQ3 | 111-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V110I - 21164565) |
KCNQ3 | 112-Y | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y111C - 10973849) |
KCNQ3 | 115-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L114P - 12402336) |
KCNQ3 | 116-E | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E115G - 15840476) |
KCNQ3 | 118-P | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.P117L - 11684219) |
KCNQ3 | 120-G | None | 9 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.S256W - 16909397) |
KCNQ3 | 122-A | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.C122Y - 15840476) |
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.A259V - 16909397) | ||||
KCNQ3 | 127-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F127L - 19716085) |
KCNQ3 | 130-F | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V174F - 7842011) |
KCNQ3 | 132-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I132L - 19862833) |
KCNQ3 | 133-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V133I - 12877697) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.I177N - 9600245) | ||||
KCNQ3 | 134-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L134P - 19716085) |
KCNQ3 | 136-C | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.C136F - 15840476) |
KCNQ3 | 137-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L137F - 16414944) |
KCNQ3 | 140-A | None | 9 | KCNQ1 NM_000218 | Atrial fibrillation (p.S140G - 12522251) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F184C - 8541859) | ||||
KCNQ3 | 141-V | None | 9 | KCNQ1 NM_000218 | Atrial fibrillation (p.V141M - 16109388) |
KCNQ3 | 144-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T144A - 14678125) |
KCNQ3 | 146-K | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E146K - 16414944) |
KCNQ3 | 147-E | None | 9 | KCNQ1 NM_000218 | Atrial fibrillation (p.Q147R - 17997361) |
KCNQ3 | 149-E | None | 8 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.E119G - 18006581) |
KCNQ3 | 150-T | None | 4 | KCNQ1 NM_000218 | Long QT syndrome (p.A150G - 19862833) |
KCNQ3 | 152-S | Probably Benign - (p.S152L - rs149104914) | 4 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.S122L - 16916607) |
KCNQ3 | 153-G | None | 5 | KCNQ1 NM_000218 | Long QT syndrome (p.T153M - 19716085) |
KCNQ3 | 157-L | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.F157C - 10220146) |
KCNQ3 | 160-E | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E160K - 10973849, p.E160V - 19716085) |
KCNQ3 | 161-T | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.T226A - 9600245, p.T226R - 10355668, p.T226M - 8871592) Myokymia (p.T226K - 17136396) |
KCNQ3 | 162-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V162M - 19716085) |
KCNQ3 | 168-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G168R - 9693036/9386136) |
KCNQ3 | 169-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T169R - 19862833) |
KCNQ3 | 172-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V172M - 14678125) |
KCNQ3 | 173-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V173D - 16414944) |
KCNQ3 | 174-R | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R174C - 9386136, p.R174H - 10973849, p.R174P - 16414944) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.R239S - 7842011) | ||||
KCNQ3 | 178-A | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.A178P - 8528244, p.A178T - 9024139) |
KCNQ3 | 179-G | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.G179S - 10973849) |
KCNQ3 | 183-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.K183R - 20541041) |
KCNQ3 | 184-Y | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.Y184H - 19716085, p.Y184S - 10220144) |
KCNQ3 | 186-G | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.G186R - 19716085, p.G186S - 17470695) |
KCNA1 NM_000217 | Epilepsy partial and myokymia (p.A242P - 11026449) | ||||
KCNQ3 | 187-W | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.L187P - 18808722) |
KCNQ3 | 188-R | None | 8 | KCNA1 NM_000217 | Myokymia (p.P244H - 11026449) |
KCNQ3 | 189-G | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.G189R - 8528244) Long QT syndrome ? (p.G189E - 17470695) |
KCNQ3 | 190-R | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.R190Q - 8528244, p.R190L - 19716085, p.R190W - 16414944) |
KCNQ3 | 191-L | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.L191P - 12442276) |
KCNQ3 | 192-K | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.R192H - 16922724, p.R192P - 16414944) |
KCNQ3 | 193-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F193L - 12653681) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F249I - 7842011) | ||||
KCNQ3 | 194-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A194P - 10973849) |
KCNQ3 | 195-R | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R195W - 19716085) |
KCNQ3 | 198-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I198V - 19716085) |
KCNQ3 | 199-C | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.S199A - 19716085) |
KCNA1 NM_000217 | Hypomagnesemia (p.N255D - 19307729) | ||||
KCNQ3 | 202-D | None | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.D202N - 12051962) Long QT syndrome (p.D202H - 15176425) |
KCNQ3 | 204-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I204M - 16414944, p.I204F - 15840476) |
KCNQ3 | 205-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V205M - 18580685) |
KCNQ3 | 206-L | None | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.F182L - 17033161) |
KCNA1 NM_000217 | Episodic ataxia (p.I262T - 15127317) | ||||
KCNQ3 | 207-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome ? (p.V207M - 19198868) |
KCNQ3 | 209-S | None | 8 | KCNQ1 NM_000218 | Atrial fibrillation (p.S209P - 19632626) Long QT syndrome (p.S209F - 16414944) |
KCNQ3 | 215-V | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.V215M - 16414944) |
KCNQ3 | 224-T | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.S225L - 9927399) |
KCNQ3 | 225-S | None | 8 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.A196V - 17475800) |
KCNQ1 NM_000218 | Long QT syndrome (p.A226V - 15234419) | ||||
KCNQ3 | 228-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G229D - 19165230) |
KCNQ3 | 230-R | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R231C - 12205790, p.R231H - 16414944) |
KCNQ3 | 233-Q | None | 9 | KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.R420H - 16501573) |
KCNQ3 | 234-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I235N - 15466642) |
KCNA1 NM_000217 | Episodic ataxia (p.V299I - 19770477) | ||||
KCNQ3 | 236-R | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R207W - 11572947) Peripheral nerve hyperexcitability (p.R207Q - 17872363) |
KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.R423H - 19953606) | ||||
KCNQ3 | 237-M | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.M208V - 14534157) |
KCNQ3 | 238-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L239P - 16414944) |
KCNQ3 | 240-M | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V241G - 19716085) |
KCNA1 NM_000217 | Episodic ataxia (p.L305F - 16511644) | ||||
KCNQ3 | 241-D | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.D212G - 19344764) |
KCNQ1 NM_000218 | Long QT syndrome (p.D242N - 9799083, p.D242Y - 19490272) | ||||
KCNQ3 | 242-R | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R213W - 18353052) |
KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.R243H - 10090886) Long QT syndrome (p.R243C - 10409658, p.R243P - 16922724, p.R243S - 19490272) | ||||
KCNA1 NM_000217 | Episodic ataxia 1 (p.R307C - 20660867) | ||||
KCNQ3 | 243-R | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R214W - 11175290) |
KCNQ3 | 246-T | None | 9 | KCNA1 NM_000217 | Episodic ataxia (p.G311S - 9714564) |
KCNQ3 | 247-W | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.W248R - 10409658, p.W248C - 15176425) |
KCNQ3 | 249-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L250H - 9799083, p.L250P - 19716085) |
KCNQ3 | 250-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L251P - 10874277) |
KCNQ3 | 253-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V254L - 16414944, p.V254M - 8528244) |
KCNQ3 | 257-H | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.H228Q - 14534157) |
KCNQ1 NM_000218 | Long QT syndrome (p.H258R - 16414944, p.H258N - 16414944, p.H258P - 20541041) | ||||
KCNQ3 | 258-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.R259C - 11021476, p.R259H - 16922724, p.R259L - 15466642) |
KCNQ3 | 260-E | None | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.E261D - 10704188) Long QT syndrome (p.E261Q - 19716085, p.E261K - 9386136) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.E325D - 8541859) | ||||
KCNQ3 | 261-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L262V - 16414944) |
KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.F448L - 16501573) | ||||
KCNQ3 | 264-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T265I - 17905336) |
KCNA1 NM_000217 | Episodic ataxia (p.L329I - 11013453) | ||||
KCNQ3 | 265-W | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L266P - 10973849) |
KCNQ3 | 267-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I268S - 19716085) |
KCNQ3 | 268-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G269D - 9386136, p.G269S - 10560595) |
KCNQ3 | 271-T | None | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.G272D - 11140949) Long QT syndrome (p.G272V - 20541041) |
KCNQ3 | 272-L | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.L243F - 14534157) |
KCNQ1 NM_000218 | Long QT syndrome (p.L273R - 15840476, p.L273F - 8528244) | ||||
KCNQ3 | 273-I | None | 9 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.I274V - 17210839) |
KCNQ3 | 274-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F275S - 12442276) |
KCNQ3 | 276-S | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.S247W - 12742592) |
KCNQ1 NM_000218 | Long QT syndrome (p.S277L - 12442276, p.S277P - 19716085, p.S277W - 16414944) | ||||
KCNQ3 | 277-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y278H - 15466642) |
KCNA1 NM_000217 | Episodic ataxia (p.S342I - 15532032) | ||||
KCNQ3 | 279-V | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.V250G - 11690625) |
KCNQ1 NM_000218 | Long QT syndrome (p.V280E - 16414944) | ||||
KCNQ3 | 280-Y | Probably Benign - (p.Y280F - rs140312029) | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y281C - 9927399) |
KCNQ3 | 281-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L282P - 19716085) |
KCNQ3 | 282-V | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A283G - 19716085) |
KCNQ3 | 283-E | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.E284K - 14678125) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.E260K - 18941426) | ||||
KCNQ3 | 285-D | Probably Benign - (p.D285E - rs62519577) | 8 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.D262V - 18941426) |
KCNQ3 | 286-V | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.A287E - 16414944) |
KCNQ3 | 294-E | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.E290K - 15840476) |
KCNQ3 | 296-M | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.G292D - 12566525) |
KCNQ3 | 297-K | None | 8 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.N258S - 18246739) |
KCNQ1 NM_000218 | Long QT syndrome (p.R293C - 15466642) | ||||
KCNQ3 | 299-E | Epilepsy - Epilepsy, rolandic & benign neonatal convulsions (p.E299K - 18625963) | 9 | ||
KCNQ3 | 300-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome ? (p.F296S - 17470695) |
KCNQ3 | 302-T | Probably Benign - (p.T302N - rs62519576) | 9 | ||
KCNQ3 | 304-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A300T - 9641694) |
KCNQ3 | 305-D | Epilepsy - Epilepsy, benign neonatal (p.D305G - 14534157) | 9 | ||
KCNQ3 | 306-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A302E - 19716085, p.A302T - 16414944, p.A302V - 15466642) |
KCNQ3 | 307-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L303P - 19716085) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.L274H - 10925378) | ||||
KCNQ3 | 308-W | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.W304R - 15840476) |
KCNQ3 | 309-W | Epilepsy - Epilepsy, benign neonatal (p.W309R - 10852552) | 9 | KCNQ1 NM_000218 | Jervell and Lange-Nielsen syndrome (p.W305S - 9781056) Long QT syndrome (p.W305R - 19716085) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.W276S - 10369879) | ||||
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.W450G - 17896311) | ||||
KCNQ3 | 310-G | Epilepsy - Epilepsy, benign neonatal (p.G310V - 9425900) | 9 | KCNQ2 NM_172107 | Infantile seizures (p.G271V - 16691402) |
KCNQ1 NM_000218 | Long QT syndrome (p.G306R - 19716085/8528244, p.G306V - 12442276) | ||||
KCNQ3 | 311-L | None | 9 | KCNQ1 NM_000218 | Short QT syndrome (p.V307L - 15159330) |
KCNQ3 | 312-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V308D - 16414944) |
KCNQ3 | 313-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T309R - 9386136, p.T309I - 11802537) |
KCNQ3 | 314-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.V310I - 10973849) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.L281S - 10571947) | ||||
KCNQ3 | 315-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T311A - 20541041, p.T311I - 9482580) |
KCNQ3 | 316-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T312I - 8528244) |
KCNQ3 | 317-I | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.I313M - 9024139) |
KCNQ3 | 318-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G314A - 15234419, p.G314R - 15840476, p.G314D - 15466642, p.G314C - 12702160, p.G314S - 8872472) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G285C - 10369879, p.G285S - 10025409) | ||||
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.G459D - 16909397) | ||||
KCNQ3 | 319-Y | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.Y315C - 9693036, p.Y315F - 19841300, p.Y315S - 9386136) |
KCNQ3 | 320-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G316R - 15840476/12402336, p.G316E - 16414944, p.G316V - 19716085) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G287R - 21242547) | ||||
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.G461R - 17896311) | ||||
KCNQ3 | 321-D | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.D317N - 9302275, p.D317G - 14678125, p.D317Y - 20541041) |
KCNQ3 | 322-K | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.K318N - 9693036) |
KCNQ3 | 323-T | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.Y284C - 9425895) |
KCNQ3 | 324-P | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.P320A - 9386136, p.P320S - 19716085) Long QT syndrome ? (p.P320H - 17470695) |
KCNQ3 | 326-T | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.T322A - 12877697, p.T322K - 19862833, p.T322M - 16414944) |
KCNQ3 | 329-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G325R - 9024139) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G296S - 18030493) | ||||
KCNQ3 | 330-R | Epilepsy - Epilepsy, benign neonatal (p.R330C - 16883520) | 9 | ||
KCNQ3 | 333-A | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.A294G - 17129708) |
KCNQ3 | 338-L | Probably Benign - (p.L338S - rs139819686) | 9 | ||
KCNQ3 | 342-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.S338F - 19862833) |
KCNQ3 | 343-F | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F339S - 17224687, p.F339Y - 19716085) |
KCNQ3 | 345-A | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.A306T - 9425895) |
KCNQ1 NM_000218 | Long QT syndrome (p.A341E - 8528244, p.A341G - 19716085, p.A341V - 8528244) | ||||
KCNQ3 | 346-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L342F - 9386136) |
KCNQ3 | 347-P | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.P343R - 16414944, p.P343L - 16414944, p.P343S - 15511625) |
KCNQ3 | 348-A | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.A344E - 15234419, p.A344V - 9386136) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V404I - 9600245) | ||||
KCNQ3 | 349-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G345R - 9272155, p.G345E - 8528244) |
KCNQ3 | 352-G | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V408A - 7842011) Episodic ataxia with cerebellar dysfunction & cognitive delay (p.V408L - 19205071) |
KCNQ3 | 353-S | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.S349P - 16414944, p.S349W - 10973849) |
KCNQ3 | 354-G | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.G350R - 19716085/16414944) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G321S - 10369879) | ||||
KCNQ3 | 355-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.F351S - 16414944) |
KCNQ3 | 357-L | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.L353P - 9693036) |
KCNQ3 | 358-K | None | 9 | KCNQ1 NM_000218 | Long QT syndrome (p.K354R - 19716085) |
KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F414C - 18926884) Episodic ataxia 1 (p.F414S - 20660867) | ||||
KCNQ3 | 361-E | None | 8 | KCNQ1 NM_000218 | Long QT syndrome (p.Q357R - 12702160) |
KCNQ3 | 363-H | None | 7 | KCNA5 NM_002234 | Atrial fibrillation (p.T527M - 19343045) |
KCNQ3 | 364-R | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.R360M - 19716085, p.R360T - 16414944) Long QT syndrome ? (p.R360G - 17470695) |
KCNQ3 | 366-K | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.K362R - 15840476) |
KCNQ3 | 367-H | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.H363N - 19862833) |
KCNQ3 | 369-E | None | 7 | KCNQ1 NM_000218 | Long QT syndrome (p.N365H - 19716085) |
KCNQ3 | 370-K | None | 6 | KCNQ1 NM_000218 | Long QT syndrome (p.R366Q - 10973849, p.R366P - 9024139, p.R366W - 9693036) |
KCNQ3 | 371-R | None | 6 | KCNQ1 NM_000218 | Long QT syndrome (p.Q367H - HGOL) |
KCNQ3 | 372-R | None | 4 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R333Q - 14534157, p.R333W - 16039833) |
KCNQ3 | 375-A | None | 4 | KCNQ1 NM_000218 | Long QT syndrome (p.A371T - 9386136) |
KCNQ3 | 376-A | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.A372D - 16414944) |
KCNQ3 | 377-E | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.S373P - 10220144) |
KCNQ3 | 378-L | None | 2 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.L339R - 11690625) |
KCNQ1 NM_000218 | Long QT syndrome (p.L374H - 15840476) | ||||
KCNQ3 | 381-A | Epilepsy - Epilepsy, rolandic without neonatal seizures (p.A381V - 18625963) | 2 | ||
KCNQ3 | 383-W | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.W379G - 19716085, p.W379S - 12566525) Sudden infant death syndrome (p.W379R - 17222736) |
KCNQ3 | 384-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R380G - 19841298, p.R380S - 15840476) |
KCNQ3 | 389-N | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.E385K - 19716085) |
KCNQ3 | 392-R | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R353G - 14985406) |
KCNQ3 | 396-V | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.S389P - 19716085, p.S389Y - 15840476) |
KCNQ3 | 398-T | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.T359K - 19559753) |
KCNQ1 NM_000218 | Long QT syndrome (p.T391I - 10973849) | ||||
KCNQ3 | 399-W | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.W392R - 10220144) |
KCND3 NM_004980 | Brugada syndrome (p.L450F - 21349352) | ||||
KCNQ3 | 400-R | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.K393N - 17470695, p.K393M - 16414944) |
KCNQ3 | 403-E | Probably Benign - (p.E403K - rs142445773) | 1 | ||
KCNQ3 | 404-S | None | 1 | KCNQ1 NM_000218 | Long QT syndrome ? (p.R397W - 17470695) |
KCNQ3 | 405-V | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.K398R - 19716085) |
KCNQ3 | 406-V | Probably Benign - (p.V406I - rs144474368) | 1 | ||
KCNQ3 | 409-P | Probably Benign - (p.P409R - rs149272208) | 2 | ||
KCNQ3 | 414-E | Benign - (p.E414G - rs2303995) | 0 | ||
KCNQ3 | 429-R | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.K422T - 20541041) |
KCNQ3 | 446-T | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.D446E - 19716085) |
KCNQ3 | 448-L | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.P448L - 19716085) Long QT syndrome ? (p.P448R - 10973849) |
KCNQ3 | 451-D | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.R451Q - 15234419, p.R451W - 19716085) |
KCNQ3 | 452-A | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.R452W - 15840476) |
KCNQ3 | 457-P | Probably Benign - (p.P457L - rs147190128) | 0 | ||
KCNQ3 | 462-K | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.H455Y - 17905336) |
KCNQ3 | 464-V | Probably Benign - (p.V464A - rs143664009) | 1 | ||
KCNQ3 | 465-G | None | 1 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.G460S - 17210839) |
KCNQ3 | 468-N | Probably Benign - (p.N468S - rs118192252) | 1 | ||
KCNQ3 | 473-R | Probably Benign - (p.R473H - rs138181943) | 1 | ||
KCNQ3 | 477-R | Probably Benign - (p.R477L - rs141821338) | 1 | ||
KCNQ3 | 479-K | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.P477L - 19716085) |
KCNQ3 | 485-Q | None | 1 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 ? (p.T501T - 17033161) |
KCNQ3 | 494-D | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.E515D - 19380078) |
KCNQ3 | 516-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R511W - 19716085) |
KCNQ3 | 519-I | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.I514T - HGOL) |
KCNQ3 | 522-V | Probably Benign - (p.V522I - rs143683496) | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.I517T - 15234419) |
KCNQ3 | 523-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R518Q - 19716085, p.R518G - 16414944, p.R518P - 16414944) |
KCNQ3 | 524-I | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R519C - 12566525) |
KCNQ3 | 525-L | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.M520R - 17482572) |
KCNQ3 | 527-F | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.Y522S - 19716085) |
KCNQ3 | 529-L | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.V524G - 14678125) |
KCNQ3 | 530-Y | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.A525T - 10482963, p.A525V - 15234419) |
KCNQ3 | 531-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.K526E - 15840476) |
KCNQ3 | 532-K | None | 2 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R553Q - 11690625) |
KCNQ3 | 533-K | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.K554N - 15249611) |
KCNQ3 | 538-L | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R533W - 10728423) |
KCNQ3 | 544-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R539Q - 19716085, p.R539W - 9312006) |
KCNQ3 | 546-V | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.V541I - 19716085) |
KCNQ3 | 548-E | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.E543K - 19716085) |
KCNQ3 | 551-S | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.S546L - 15466642) |
KCNQ3 | 552-A | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.Q547R - 19716085) |
KCNQ3 | 553-G | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G548D - 16414944) |
KCNQ3 | 555-L | Probably Benign - (p.L555F - rs141361892) | 2 | ||
KCNQ3 | 559-S | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.V554A - 16414944) |
KCNQ3 | 560-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R555C - 9386136, p.R555H - 14998624, p.R555S - 19716085) |
KCNQ3 | 562-K | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.K557E - 12402336) |
KCNQ3 | 567-R | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R562M - 12566525) |
KCNQ3 | 571-I | None | 3 | KCNQ2 NM_172107 | Epilepsy, rolandic without neonatal seizures (p.I592M - 18625963) |
KCNQ1 NM_000218 | Long QT syndrome (p.S566F - 10973849, p.S566P - 19716085, p.S566Y - 15840476) | ||||
KCNQ3 | 572-F | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.I567S - 14678125, p.I567T - 16414944) |
KCNQ3 | 573-T | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G568A - 12702160, p.G568R - 15840476) |
KCNQ3 | 574-P | Conflict - Epilepsy, rolandic without neonatal seizures (p.P574S - 18625963, rs74582884) | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.K569E - 19716085) |
KCNQ3 | 576-P | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.S571L - 19716085) |
KCNQ3 | 578-S | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.F573L - 16414944) |
KCNQ3 | 614-E | None | 4 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.G584S - 17222736) |
KCNQ3 | 616-Q | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.N586D - 16414944) |
KCNQ3 | 617-S | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.T587M - 9799083) |
KCNQ3 | 619-M | None | 5 | KCNQ1 NM_000218 | Long QT syndrome (p.G589D - 10483966) |
KCNQ3 | 620-G | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.A590T - 14998624) |
KCNQ3 | 621-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R591H - 10024302) Long QT syndrome ? (p.R591C - 17470695) |
KCNQ3 | 624-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.R594Q - 10973849, p.R594P - 17224687) |
KCNQ3 | 626-E | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.E596K - 19716085) |
KCNQ3 | 628-Q | None | 3 | KCNQ1 NM_000218 | Sudden infant death syndrome (p.K598R - 18596570) |
KCNQ3 | 630-Q | None | 3 | KCNQ1 NM_000218 | Long QT syndrome (p.T600M - 19716085) |
KCNQ3 | 632-M | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.L602P - 20541041) |
KCNQ3 | 636-L | None | 2 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.L637R - 14985406) |
KCNQ3 | 641-D | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.D611N - 19716085, p.D611Y - 12808265) |
KCNQ3 | 649-R | None | 1 | KCNQ1 NM_000218 | Long QT syndrome (p.L619M - 15840476) |
KCNQ3 | 662-G | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G626S - 15840476) |
KCNQ3 | 665-S | Probably Benign - (p.S665L - rs147173555) | 1 | ||
KCNQ3 | 666-P | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.P630A - 17905336) |
KCNQ3 | 671-K | None | 2 | KCNQ1 NM_000218 | Long QT syndrome (p.G635R - 19716085) |
KCNQ3 | 688-S | Probably Benign - (p.S688F - rs80024988) | 1 | ||
KCNQ3 | 715-H | Probably Benign - (p.H715R - rs112314858) | 1 | ||
KCNQ3 | 716-D | Probably Benign - (p.D716H - rs149324120) | 1 | ||
KCNQ3 | 723-G | Probably Benign - (p.G723E - rs142149782) | 1 | ||
KCNQ3 | 755-D | Probably Benign - (p.D755N - rs150821246) | 1 | ||
KCNQ3 | 769-P | Probably Benign - (p.P769H - rs114095081) | 0 | ||
KCNQ3 | 780-R | Probably Benign - (p.R780C - rs138852641) | 1 | ||
KCNQ3 | 821-N | Probably Benign - (p.N821S - rs118192254) | 1 | ||
KCNQ3 | 822-G | Probably Benign - (p.G822W - rs143789582) | 1 | ||
KCNQ3 | 831-R | Probably Benign - (p.R831Q - rs149004528) | 2 | ||
KCNQ3 | 832-Y | Probably Benign - (p.Y832C - rs113548597) | 2 | ||
KCNQ3 | 838-T | Probably Benign - (p.T838M - rs145883169) | 0 | ||
SCN1A (paralogue of LQTS gene SCN5A) - reference sequence: LRG_8p1 | View alignment | ||||
Gene | Residue | Known Variants in SCN1A | Consensus | Paralogue | Disease-causing Variants in Paralogues |
SCN1A | 1-M | Epilepsy - Dravet syndrome (p.M1L - 18930999) | 5 | ||
SCN1A | 2-E | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.M1I - 20129283) |
SCN1A | 3-Q | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.A2T - 20609320) |
SCN1A | 10-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G9V - 16922724) |
SCN1A | 12-D | None | 2 | SCN9A NM_002977 | Erythermalgia, primary (p.Q10R - 19369487) |
SCN1A | 19-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R18Q - 19716085, p.R18W - 15840476) |
SCN1A | 23-A | Probably Benign - (p.A23V - rs139397227) | 3 | ||
SCN1A | 27-R | Epilepsy - Generalized epilepsy with febrile seizures plus (p.R27T - 20729507, rs121917906) | 3 | ||
SCN1A | 28-R | Epilepsy - Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) | 2 | SCN5A NM_198056 | Brugada syndrome (p.R27H - 11901046) |
SCN1A | 31-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E30G - 19716085) |
SCN1A | 36-N | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G35S - 11960580) |
SCN1A | 40-D | None | 2 | SCN5A NM_198056 | Arrhythmia, lidocaine-induced (p.R43Q - 18848812) |
SCN1A | 42-K | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.A39V - 17224476) |
SCN1A | 45-D | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.E48K - 19716085) |
SCN1A | 49-P | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.P52S - 19716085) |
SCN1A | 50-K | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.R53Q - 19716085) |
SCN1A | 58-G | Epilepsy - Dravet syndrome (p.G58V - 18930999) | 3 | ||
SCN1A | 61-L | Epilepsy - Dravet syndrome (p.L61F - 18930999) | 3 | ||
SCN1A | 63-F | Epilepsy - Dravet syndrome (p.F63L - 20729507, rs121917907) | 2 | ||
SCN1A | 64-I | None | 3 | SCN9A NM_002977 | Febrile seizures (p.I62V - 19763161) |
SCN1A | 67-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.N70K - 20129283) |
SCN1A | 74-S | Epilepsy - Myoclonic epilepsy of infancy (p.S74P - 17561957, rs121917931) | 3 | ||
SCN1A | 78-E | Epilepsy - Myoclonic epilepsy of infancy (p.E78D - 12821740, rs121917933) | 3 | ||
SCN1A | 79-D | Epilepsy - Myoclonic epilepsy of infancy (p.D79H - 17347258, rs121917982) | 3 | ||
SCN1A | 81-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D84N - 20129283) |
SCN1A | 84-Y | Epilepsy - Myoclonic epilepsy of infancy (p.Y84C - 17347258, rs121917964) | 4 | ||
SCN1A | 90-F | Epilepsy - Myoclonic epilepsy of infancy (p.F90S - 18554359, rs121918733) | 5 | SCN5A NM_198056 | Brugada syndrome (p.F93S - 20129283) |
SCN1A | 91-I | Epilepsy - Myoclonic epilepsy of infancy (p.I91T - 18554359, rs121918734) | 5 | SCN5A NM_198056 | Brugada syndrome (p.I94S - 20129283) |
SCN1A | 92-V | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V95I - 17081365) |
SCN1A | 101-R | Epilepsy - Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) | 7 | SCN5A NM_198056 | Brugada syndrome (p.R104Q - 11960580, p.R104W - 20129283) Long QT syndrome (p.R104G - 19716085) |
SCN1A | 103-S | Epilepsy - Myoclonic epilepsy of infancy (p.S103G - 12566275, rs121918743) | 8 | ||
SCN1A | 106-S | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.N109K - 19843921) |
SCN1A | 110-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V113I - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) | ||||
SCN1A | 112-T | Epilepsy - Myoclonic epilepsy of infancy (p.T112I - 12566275, rs121918745) | 9 | SCN5A NM_198056 | Long QT syndrome (p.S115G - 19716085) |
SCN1A | 118-R | Epilepsy - Myoclonic epilepsy of infancy (p.R118S - 18413471, rs121917959) | 9 | SCN5A NM_198056 | Brugada syndrome (p.R121Q - 20129283, p.R121W - 19606473) |
SCN1A | 122-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V125L - 15840476) |
SCN1A | 123-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K126E - 12051963) |
SCN1A | 124-I | Epilepsy - Dravet syndrome (p.I124N - 18930999, rs121918761) | 9 | ||
SCN1A | 127-H | Probably Benign - (p.H127D - rs148442069) | 9 | ||
SCN1A | 133-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L136P - 17697823) |
SCN1A | 135-M | None | 9 | SCN5A NM_198056 | Atrial fibrillation (p.M138I - 18378609) |
SCN1A | 138-I | None | 9 | SCN4A NM_000334 | Myotonia (p.I141V - 19015483) |
SCN9A NM_002977 | Erythermalgia, primary (p.I136V - 17294067) | ||||
SCN1A | 143-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V146M - 20129283) |
SCN1A | 145-M | Other Disease Phenotype - Febrile seizures (p.M145T - 16326807, rs121918631) | 9 | ||
SCN1A | 151-P | None | 5 | SCN9A NM_002977 | Febrile seizures (p.P149Q - 19763161) |
SCN1A | 158-E | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.E161Q - 20129283, p.E161K - 12106943) |
SCN1A | 162-T | Epilepsy - Myoclonic epilepsy of infancy (p.T162P - 17054684, rs121917934) | 7 | ||
SCN1A | 163-G | Epilepsy - Dravet syndrome (p.G163E - 18076640) | 7 | ||
SCN1A | 168-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
SCN1A | 171-I | Epilepsy - Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258, rs121918766) | 9 | ||
SCN1A | 172-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K175N - 20129283) |
SCN1A | 173-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I176M - 19996378) |
SCN1A | 175-A | Epilepsy - Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258, rs121918767) | 9 | SCN5A NM_198056 | Brugada syndrome (p.A178G - 20129283) |
SCN1A | 177-G | Epilepsy - Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740, rs121918770) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) |
SCN1A | 179-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C182R - 20129283) |
SCN1A | 180-L | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.F161L - 12891677) |
SCN1A | 182-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A185V - 20129283) Long QT syndrome (p.A185T - 15176425) |
SCN1A | 184-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T187I - 16325048) |
SCN1A | 187-R | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.R190Q - 17905336, p.R190G - 15176425) |
SCN2A NM_021007 | Febrile and afebrile seizures (p.R188W - 11371648) | ||||
SCN1A | 188-D | Epilepsy - Generalized epilepsy with febrile seizures plus (p.D188V - 11254444, rs121917953) | 9 | ||
SCN1A | 190-W | Epilepsy - Myoclonic epilepsy of infancy (p.W190R - 14738421, rs121918773) | 9 | ||
SCN1A | 191-N | Epilepsy - Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) | 9 | ||
SCN1A | 194-D | Epilepsy - Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684, rs121917935) | 9 | ||
SCN1A | 199-T | Epilepsy - Myoclonic epilepsy of infancy (p.T199R - 17347258, rs121917983) | 9 | ||
SCN1A | 201-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A204V - 20129283) |
SCN1A | 209-L | None | 6 | SCN5A NM_198056 | Atrial standstill ? (p.L212P - 16188595) Brugada syndrome (p.L212Q - 20129283) |
SCN1A | 212-V | Epilepsy - Dravet syndrome (p.V212A - 18076640) | 9 | ||
SCN1A | 213-S | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.S216L - 19412328) |
SCN9A NM_002977 | Erythermalgia, primary (p.S211P - 20123784) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) | ||||
SCN1A | 216-R | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
SCN1A | 217-T | Epilepsy - Myoclonic epilepsy of infancy (p.T217K - 17054684, rs121917936) | 9 | SCN5A NM_198056 | Nodal rhythm (p.T220I - 14523039) |
SCN1A | 218-F | Epilepsy - Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.F216S - 15955112) |
SCN1A | 219-R | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.R222Q - 19412328) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) | ||||
SCN1A | 220-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V223L - 20129283) |
SCN1A | 222-R | None | 9 | SCN5A NM_198056 | Cardiac conduction disease (p.R225W - 12574143) Long QT syndrome (p.R225Q - 16922724) |
SCN2A NM_021007 | Neonatal-infantile seizures (p.R223Q - 15048894) | ||||
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | ||||
SCN1A | 223-A | Epilepsy - Dravet syndrome (p.A223E - 18930999) | 9 | SCN5A NM_198056 | Brugada syndrome (p.A226V - 11901046) |
SCN1A | 225-K | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
SCN1A | 226-T | Epilepsy - Myoclonic epilepsy of infancy (p.T226M - 17347258, rs121917984) | 9 | ||
SCN1A | 227-I | Epilepsy - Myoclonic epilepsy of infancy (p.I227S - 12821740, rs121917937) | 9 | SCN5A NM_198056 | Brugada syndrome (p.I230V - 11901046) Cardiac conduction disease (p.I230T - 20564468) |
SCN1A | 229-V | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.V232I - 18599870) |
CACNA1H NM_021098 | Autism spectrum disorder ? (p.R212R - 16754686) | ||||
SCN1A | 230-I | None | 9 | SCN9A NM_002977 | Dravet syndrome ? (p.I228M - 19763161) |
SCN1A | 232-G | Epilepsy - Dravet syndrome (p.G232S - 18930999) | 9 | ||
SCN1A | 236-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I239V - 15176425) |
SCN9A NM_002977 | Erythermalgia, primary (p.I234T - 20385509) | ||||
SCN1A | 237-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V240M - 19716085) |
SCN1A | 239-A | Epilepsy - Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) |
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | ||||
SCN1A | 240-L | Epilepsy - Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) | 9 | ||
SCN1A | 242-Q | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q245K - 15840476) |
SCN1A | 243-S | Epilepsy - Dravet syndrome (p.S243Y - 18930999) | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.S241T - 16216943) |
SCN1A | 244-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V247L - 19716085) |
SCN1A | 247-L | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
SCN1A | 251-M | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.M252V - 20371507) |
SCN1A | 252-I | Epilepsy - Myoclonic epilepsy of infancy (p.I252N - 15087100, rs121918780) | 9 | ||
SCN1A | 259-S | Epilepsy - Dravet syndrome (p.S259R - 20431604, rs121918735) | 9 | ||
SCN1A | 260-V | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V261M - 20371507) |
SCN1A | 262-A | None | 9 | SCN2A NM_021007 | Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) |
SCN1A | 263-L | Other Disease Phenotype - Hemiplegic migraine and epilepsy (p.L263V - 19220312) | 9 | ||
SCN1A | 265-G | Epilepsy - Myoclonic epilepsy of infancy (p.G265W - 12566275, rs121918749) | 9 | ||
SCN1A | 267-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q270K - 20129283) |
SCN1A | 269-F | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
SCN1A | 271-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
SCN1A | 272-N | None | 9 | SCN5A NM_198056 | Long QT syndrome & atrial fibrillation (p.N275K - 18452873) |
SCN1A | 273-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L276Q - 17697823) |
SCN1A | 274-R | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
SCN1A | 275-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.H278D - 20129283) |
SCN1A | 277-C | Epilepsy - Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) |
SCN1A | 279-Q | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R282C - 20129283, p.R282H - 11901046) |
SCN1A | 280-W | Epilepsy - Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) | 6 | ||
SCN1A | 281-P | Epilepsy - Dravet syndrome (p.P281L - 18930999, p.P281S - 18930999) | 5 | ||
SCN1A | 287-L | Probably Benign - (p.L287V - rs138357595) | 2 | ||
SCN1A | 297-T | Epilepsy - Myoclonic epilepsy of infancy (p.T297I - 12821740, rs121918771) | 2 | ||
SCN1A | 302-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G289S - 19716085) |
SCN1A | 305-I | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G292S - 15277732) |
SCN1A | 307-E | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V294M - 11901046) |
SCN1A | 311-E | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.G298S - 11804990) |
SCN1A | 318-I | None | 3 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P314S - 17156077) |
SCN1A | 320-D | None | 3 | SCN2A NM_021007 | Neonatal-infantile seizures (p.D322N - 19783390) |
SCN1A | 322-R | Epilepsy - Myoclonic epilepsy of infancy (p.R322I - 17561957, rs121917928) | 4 | ||
SCN1A | 325-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.L315P - 20129283) |
SCN1A | 326-F | None | 6 | SCN2A NM_021007 | Neonatal-infantile seizures (p.F328V - 19783390) |
SCN1A | 327-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K317N - 14625171) |
SCN1A | 329-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G319S - 11901046) |
SCN1A | 330-F | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.T320N - 20129283) |
SCN1A | 335-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.L325R - 15890323) |
SCN1A | 340-S | Epilepsy - Dravet syndrome (p.S340F - 18930999) | 4 | ||
SCN1A | 343-G | Epilepsy - Myoclonic epilepsy of infancy (p.G343D - 12566275, rs121918753) | 4 | ||
SCN1A | 345-C | Epilepsy - Dravet syndrome (p.C345R - 18930999) | 5 | ||
SCN1A | 346-P | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.P336L - 17075016) |
SCN1A | 350-M | Probably Benign - (p.M350I - rs147095862) | 8 | SCN5A NM_198056 | Long QT syndrome (p.R340Q - 15176425, p.R340W - 19716085) |
SCN1A | 351-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
SCN1A | 353-K | None | 8 | SCN3A NM_006922 | Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) |
SCN1A | 355-G | Epilepsy - Dravet syndrome (p.G355D - 18930999) | 8 | ||
SCN1A | 356-R | Epilepsy - Myoclonic epilepsy of infancy (p.R356G - 17561957, rs121917920) | 9 | ||
SCN1A | 357-N | Epilepsy - Dravet syndrome (p.N357I - 18930999) | 9 | CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) |
SCN1A | 358-P | Epilepsy - Myoclonic epilepsy of infancy (p.P358T - 17561957, rs121917923) | 9 | ||
SCN1A | 361-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G351D - 20129283, p.G351V - 12051963) |
SCN1A | 363-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T353I - 17198989) |
SCN1A | 366-D | Epilepsy - Myoclonic epilepsy of infancy (p.D366E - 18413471, rs121917958) | 9 | SCN5A NM_198056 | Brugada syndrome (p.D356N - 16325048) |
SCN1A | 377-R | Epilepsy - Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471, rs121917957) | 9 | SCN5A NM_198056 | Brugada syndrome (p.R367C - 12106943, p.R367L - 20129283) Sudden unexplained nocturnal death syndrome (p.R367H - 11823453) |
SCN1A | 378-L | Epilepsy - Dravet syndrome (p.L378Q - 18930999) | 9 | ||
SCN1A | 379-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M369K - 12106943) |
SCN1A | 380-T | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.T370M - 16712702) |
SCN1A | 383-F | Epilepsy - Myoclonic epilepsy of infancy (p.F383L - 17054684, rs121917939) | 9 | ||
SCN1A | 384-W | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W374G - 20129283) |
SCN1A | 386-N | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R376H - 15851228) |
SCN1A | 388-Y | Epilepsy - Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195, rs121918781) | 8 | ||
SCN1A | 393-R | Epilepsy - Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) | 8 | ||
SCN1A | 395-A | Epilepsy - Cryptogenic generalised epilepsy (p.A395P - 17347258, rs121917988) | 8 | ||
SCN1A | 396-G | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.G386R - 20129283, p.G386E - 20129283) |
SCN1A | 403-F | Epilepsy - Myoclonic epilepsy of infancy (p.F403L - 17347258, rs121917966) | 9 | ||
SCN1A | 406-V | Epilepsy - Dravet syndrome (p.V406F - 19589774, rs121918768) | 9 | SCN5A NM_198056 | Brugada syndrome (p.V396A - 20129283, p.V396L - 20129283) |
SCN1A | 407-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I397T - 19716085) |
SCN1A | 410-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation during acute myocardial infarction (p.G400A - 17675083) |
CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) | ||||
SCN1A | 412-F | Epilepsy - Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) | 9 | ||
SCN1A | 413-Y | Epilepsy - Myoclonic epilepsy of infancy (p.Y413N - 17347258, rs121917967) | 9 | ||
SCN1A | 414-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L404Q - 15840476) |
SCN1A | 416-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N406S - 15877619) Long QT syndrome (p.N406K - 19716085/15840476) |
SCN9A NM_002977 | Erythermalgia, primary (p.N395K - 15955112/17263810) | ||||
SCN1A | 419-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L409V - 19716085) |
SCN1A | 420-A | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G402S - 15863612) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) | ||||
SCN1A | 421-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V411M - 10961955) |
SCN4A NM_000334 | Myotonia (p.V445M - 9392583) | ||||
SCN9A NM_002977 | Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) | ||||
SCN1A | 422-V | Epilepsy - Cryptogenic generalised epilepsy (p.V422E - 17347258, rs121917989) | 9 | ||
SCN1A | 423-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A413E - 16414944, p.A413T - 16414944) |
SCN1A | 424-M | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G406R - 15454078) |
SCN1A | 426-Y | Epilepsy - Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740, rs121917940) | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) |
SCN1A | 428-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.E430Q - 17386050) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) | ||||
SCN1A | 438-E | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.E428K - 18378609) |
SCN1A | 449-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E439K - 20129283) |
SCN1A | 451-L | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
SCN1A | 455-Q | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.H445D - 18378609) |
SCN1A | 463-T | Probably Benign - (p.T463A - rs112157737) | 3 | ||
SCN1A | 468-E | Probably Benign - (p.E468K - rs138602926) | 2 | ||
SCN1A | 484-S | None | 4 | SCN5A NM_198056 | Sudden adult death syndrome ? (p.L461V - 16712702) |
SCN1A | 485-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E462A - 19716085, p.E462K - 15840476) |
SCN1A | 493-S | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.N470K - 18378609) |
SCN1A | 500-R | Probably Benign - (p.R500W - rs141188608) | 2 | ||
SCN1A | 511-G | None | 2 | SCN9A NM_002977 | Febrile seizures ? (p.S490N - 19763161) |
SCN1A | 512-G | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P492S - 17156077) |
SCN1A | 518-D | Probably Benign - (p.D518E - rs138587241) | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G499S - 12891677) |
SCN1A | 525-S | Epilepsy - Dravet syndrome (p.S525F - 18930999) | 2 | ||
SCN1A | 527-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D501G - 20129283) |
SCN1A | 530-R | Probably Benign - (p.R530M - rs149404623) | 2 | ||
SCN1A | 535-R | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.H515Y - 15833171) |
SCN1A | 539-E | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.E519K - 19763161) |
SCN1A | 542-R | Other Disease Phenotype - Autism ? (p.R542Q - 12610651, rs121918817) | 1 | ||
SCN1A | 554-Q | Probably Benign - (p.Q554R - rs13424709) | 2 | ||
SCN1A | 557-L | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.T512I - 12569159) |
SCN1A | 559-I | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.G514C - 11234013) |
SCN1A | 568-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R523C - 18752142) |
SCN1A | 571-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R526H - 20129283) |
SCN1A | 572-T | None | 2 | SCN2A NM_021007 | Neonatal-infantile seizures (p.A575V - 19786696) |
SCN1A | 575-F | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.F530V - 19716085) |
SCN1A | 577-F | None | 2 | SCN5A NM_198056 | Sudden infant death syndrome (p.F532C - 18596570) |
SCN1A | 582-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R535Q - 19716085) |
SCN1A | 583-D | Probably Benign - (p.D583V - rs28934003) | 3 | ||
SCN1A | 590-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.F543L - 20129283) |
SCN1A | 597-T | Probably Benign - (p.T597N - rs149715258) | 2 | ||
SCN1A | 598-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A551T - 16155735) |
SCN1A | 599-E | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G552R - 20129283) |
SCN1A | 602-E | None | 3 | SCN5A NM_198056 | Brugada syndrome ? (p.E555K - 12639704) |
SCN1A | 604-R | Other Disease Phenotype - Generalized epilepsy with febrile seizures plus ? (p.R604H - 19236456, rs121918769) | 3 | ||
SCN1A | 613-R | None | 2 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A570V - 17397049) |
SCN1A | 614-H | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.L567Q - 10711933) |
SCN1A | 618-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R569W - 19716085) |
SCN1A | 621-N | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G579R - 16414944) |
SCN1A | 626-S | Epilepsy - Cryptogenic generalised epilepsy (p.S626G - 17347258, rs121917990) | 2 | ||
SCN1A | 628-S | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A586T - 21321465) |
SCN1A | 633-A | None | 1 | SCN9A NM_002977 | Erythermalgia, primary (p.P610T - 15955112) |
CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.P618L - 15048902) | ||||
SCN1A | 664-V | None | 1 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.G615E - 11997281) |
SCN9A NM_002977 | Febrile seizures (p.N641Y - 19763161) | ||||
SCN1A | 667-L | None | 2 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L618F - 11997281) |
SCN1A | 668-L | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.L619F - 12673799) |
SCN1A | 669-P | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.R620C - 20129283) |
SCN1A | 674-D | Epilepsy - Myoclonic epilepsy of infancy (p.D674G - 17347258) | 1 | ||
SCN1A | 675-K | None | 1 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P648L - 12891677) |
SCN1A | 683-T | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.T632M - 20129283) |
SCN1A | 688-E | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.P637L - 15840476) |
SCN1A | 690-R | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G639R - 16922724/19716085) |
SCN9A NM_002977 | Febrile seizures (p.K655R - 19763161) | ||||
SCN1A | 691-K | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.P640A - 20129283) |
SCN1A | 698-H | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.A647D - 20129283) |
SCN1A | 699-V | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.P648L - 15840476) |
SCN1A | 705-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E654K - 19716085) |
SCN1A | 706-D | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.E655K - 18378609) |
SCN1A | 712-R | Probably Benign - (p.R712Q - rs138799232) | 3 | SCN5A NM_198056 | Brugada syndrome (p.R661W - 20129283) |
SCN1A | 719-I | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.I684M - 19763161) |
SCN1A | 720-L | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.G490R - 17224476) |
SCN1A | 724-V | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.L673P - 19716085) |
SCN1A | 731-R | None | 3 | SCN5A NM_198056 | Sudden infant death syndrome (p.R680H - 17210839) |
SCN1A | 732-Q | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.H681P - 11901046) |
SCN1A | 734-C | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.C683G - 20129283) |
SCN9A NM_002977 | Dravet syndrome ? (p.C699Y - 19763161) | ||||
CACNA1H NM_021098 | Epilepsy, childhood absence (p.R744Q - 12891677) | ||||
SCN1A | 735-P | None | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
SCN1A | 740-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R689C - 19716085, p.R689H - 16414944) |
SCN1A | 742-S | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.A691T - 15176425) |
SCN1A | 743-N | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q692K - 12566525) |
SCN1A | 748-W | None | 6 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G773D - 12891677) |
SCN1A | 752-P | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P701L - 19716085) |
SCN1A | 758-K | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
SCN1A | 759-H | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G784S - 12891677) |
SCN1A | 760-V | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.G709V - 20541041) |
SCN1A | 768-P | Epilepsy - Myoclonic epilepsy of infancy (p.P768L - 19350499) | 8 | SCN5A NM_198056 | Brugada syndrome (p.P717L - 20129283) |
SCN1A | 774-I | None | 9 | SCN9A NM_002977 | Febrile seizures ? (p.I739V - 19763161) |
SCN1A | 782-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T731I - 19716085) |
CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) | ||||
SCN1A | 783-L | Epilepsy - Myoclonic epilepsy of infancy (p.L783P - 17347258, rs121917968) | 9 | ||
SCN1A | 786-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A735E - 11901046, p.A735T - 20609320) Sudden unexplained nocturnal death syndrome (p.A735V - 11823453) |
SCN1A | 788-E | Epilepsy - Dravet syndrome (p.E788K - 18076640) | 9 | ||
SCN1A | 790-Y | Epilepsy - Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682, rs121918782) | 9 | ||
SCN1A | 797-N | Probably Benign - (p.N797S - rs142192023) | 9 | SCN5A NM_198056 | Brugada syndrome (p.E746K - 20129283) |
SCN1A | 801-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q750R - 19716085) |
SCN1A | 803-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G752R - 12693506) |
SCN1A | 806-V | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.V831M - 12891677) |
SCN1A | 808-T | Epilepsy - Myoclonic epilepsy of infancy (p.T808S - 12566275, rs121918758) | 9 | ||
SCN1A | 809-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G758E - 20129283) |
SCN1A | 810-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I759F - 19862833) |
SCN1A | 812-T | Epilepsy - Myoclonic epilepsy of infancy (p.T812R - 17054684, rs121917941) | 9 | ||
SCN1A | 814-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
SCN1A | 815-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M764R - 20129283) |
SCN1A | 823-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D772N - 19716085) |
CACNA1H NM_021098 | Epilepsy, childhood absence (p.G848S - 12891677) | ||||
SCN1A | 824-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P773S - 20129283) |
SCN1A | 830-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q779K - 20541041) |
SCN1A | 840-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.V789I - 20129283) |
SCN1A | 843-S | Epilepsy - Dravet syndrome (p.S843R - 18930999/18930999) | 6 | ||
SCN1A | 846-E | Probably Benign - (p.E846K - rs121917942) | 5 | ||
SCN1A | 851-N | None | 6 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A876T - 17696120) |
SCN1A | 853-E | Epilepsy - Myoclonic epilepsy of infancy (p.E853K - 17054684) | 5 | ||
SCN1A | 857-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
SCN1A | 858-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L823R - 19800314) |
SCN1A | 859-R | Epilepsy - Generalized epilepsy with febrile seizures plus (p.R859C - 16525050, rs121918784) | 9 | SCN5A NM_198056 | Long QT syndrome (p.R808P - 19862833) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) | ||||
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | ||||
SCN1A | 861-F | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
SCN1A | 862-R | Probably Benign - (p.R862Q - rs121918785) | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
SCN1A | 865-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R814Q - 17442746) Cardiomyopathy, dilated (p.R814W - 15671429) |
SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) | ||||
SCN1A | 867-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F816Y - 19716085) |
SCN1A | 869-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
SCN1A | 875-T | Epilepsy - Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094, rs121918623) | 9 | ||
SCN1A | 877-N | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R902W - 16754686) |
SCN1A | 879-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
SCN1A | 883-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) |
SCN9A NM_002977 | Erythermalgia, primary (p.I848T - 14985375) | ||||
SCN1A | 884-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G833R - 19862833) |
SCN1A | 886-S | Probably Benign - (p.S886P - rs563792) | 9 | SCN5A NM_198056 | Brugada syndrome (p.S835L - 15277732) |
SCN1A | 890-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L839P - 16426410) |
SCN1A | 891-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G840R - 19862833) |
SCN1A | 893-L | None | 9 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) |
SCN9A NM_002977 | Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) | ||||
SCN1A | 894-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T843A - 16244680) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) | ||||
SCN1A | 896-V | Epilepsy - Dravet syndrome (p.V896L - 18930999) | 9 | ||
SCN1A | 898-A | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.A863P - 17135418) |
SCN1A | 899-I | Epilepsy - Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) | 9 | SCN5A NM_198056 | Long QT syndrome (p.I848F - 19716085) |
SCN1A | 901-V | Benign - (p.V901I - rs12617205) | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V892I - 15048894) |
SCN1A | 902-F | Epilepsy - Myoclonic epilepsy of infancy (p.F902C - 12083760, rs121918787) | 9 | SCN5A NM_198056 | Brugada syndrome (p.F851L - 11901046/20129283) |
SCN1A | 907-V | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.V872G - 19162012) |
SCN1A | 908-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
SCN1A | 914-K | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
SCN1A | 918-D | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.E867Q - 20129283) |
SCN1A | 924-A | Probably Benign - (p.A924T - rs141950573) | 3 | ||
SCN1A | 927-C | Epilepsy - Dravet syndrome (p.C927F - 18930999) | 4 | ||
SCN1A | 928-Q | Probably Benign - (p.Q928H - rs138376436) | 4 | ||
SCN1A | 931-R | Epilepsy - Myoclonic epilepsy of infancy (p.R931C - 12083760, rs121918788) | 8 | SCN5A NM_198056 | Brugada syndrome (p.R878C - HGOL, p.R878H - 20129283) |
SCN9A NM_002977 | Congenital indifference to pain (p.R896Q - 20635406) | ||||
SCN1A | 934-M | Epilepsy - Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421, rs121918774) | 9 | ||
SCN1A | 935-N | Epilepsy - Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) | 9 | ||
SCN1A | 939-H | Epilepsy - Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708, rs121918736) | 9 | SCN5A NM_198056 | Brugada syndrome (p.H886P - 20129283) |
CACNA1H NM_021098 | Autism spectrum disorder ? (p.W962C - 16754686) | ||||
SCN1A | 942-L | Epilepsy - Myoclonic epilepsy of infancy (p.L942P - 17054684, rs121917943) | 9 | ||
SCN1A | 943-I | Epilepsy - Dravet syndrome (p.I943N - 18930999) | 9 | ||
SCN1A | 944-V | Epilepsy - Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) | 9 | ||
SCN1A | 945-F | Epilepsy - Myoclonic epilepsy of infancy (p.F945L - 17347258, rs121917970) | 9 | SCN5A NM_198056 | Brugada syndrome (p.F892I - 11901046) |
SCN1A | 946-R | Epilepsy - Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) | 9 | SCN5A NM_198056 | Brugada syndrome (p.R893C - 20129283, p.R893H - 20129283) |
SCN1A | 949-C | Epilepsy - Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) | 9 | SCN5A NM_198056 | Brugada syndrome (p.C896S - 11901046) |
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) | ||||
SCN1A | 950-G | Epilepsy - Myoclonic epilepsy of infancy (p.G950E - 17347258, rs121917972) | 9 | ||
SCN1A | 952-W | Epilepsy - Myoclonic epilepsy of infancy (p.W952G - 18554359, rs121918737) | 9 | ||
SCN1A | 954-E | Probably Benign - (p.E954K - rs121918786) | 9 | SCN5A NM_198056 | Brugada syndrome (p.E901K - 20129283) |
SCN1A | 957-W | Epilepsy - Myoclonic epilepsy of infancy (p.W957L - 17561957, rs121917917) | 9 | ||
SCN1A | 959-C | Epilepsy - Myoclonic epilepsy of infancy (p.C959R - 12754708, rs121918796) | 9 | ||
SCN1A | 960-M | Epilepsy - Myoclonic epilepsy of infancy (p.M960V - 12566275, rs121918750) | 8 | ||
SCN1A | 962-V | Probably Benign - (p.V962A - rs138858653) | 6 | ||
SCN1A | 963-A | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.S910L - 11901046) |
SCN1A | 968-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C915R - 20129283) |
SCN1A | 970-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L917R - 20129283) |
SCN1A | 971-V | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
SCN1A | 973-M | Epilepsy - Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999, rs121917991) | 9 | ||
SCN1A | 976-M | Epilepsy - Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) | 9 | ||
SCN1A | 979-G | Epilepsy - Myoclonic epilepsy of infancy (p.G979R - 12566275, rs121918754) | 9 | ||
SCN1A | 980-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N927S - 16764707) |
SCN1A | 981-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L928P - 20129283) |
SCN1A | 982-V | Epilepsy - Dravet syndrome (p.V982L - 19763161) | 9 | ||
SCN1A | 983-V | Epilepsy - Myoclonic epilepsy of infancy (p.V983A - 12566275, rs121918756) | 9 | ||
SCN1A | 985-N | Epilepsy - Myoclonic epilepsy of infancy (p.N985I - 12566275, rs121918747) | 9 | ||
SCN1A | 986-L | Epilepsy - Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211, rs121918625) | 9 | ||
SCN1A | 987-F | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
SCN1A | 988-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L935P - 20129283) |
SCN1A | 989-A | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
SCN1A | 990-L | Epilepsy - Dravet syndrome (p.L990F - 18076640) | 9 | CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) |
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | ||||
SCN1A | 992-L | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
SCN1A | 993-S | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
SCN1A | 994-S | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
SCN1A | 998-D | Epilepsy - Dravet syndrome (p.D998G - 18930999) | 5 | ||
SCN1A | 1010-N | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.N1001K - 16417554) |
SCN1A | 1011-N | Epilepsy - Myoclonic epilepsy of infancy (p.N1011I - 12566275, rs121918759) | 4 | ||
SCN1A | 1012-L | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1003I - 15048894) |
SCN1A | 1013-Q | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q960K - 19716085) |
SCN1A | 1018-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R965C - 11901046, p.R965H - 16764707) Long QT syndrome (p.R965L - 19716085) |
SCN1A | 1020-H | Probably Benign - (p.H1020Q - rs150154265) | 3 | ||
SCN1A | 1024-A | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R971C - 15840476) |
SCN1A | 1028-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R975W - 19322600) |
SCN1A | 1031-Y | None | 3 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.R996C - 17145499) |
SCN1A | 1034-I | Other Disease Phenotype - Autism ? (p.I1034T - 12610651, rs121918818) | 3 | SCN5A NM_198056 | Long QT syndrome (p.C981F - 19716085) |
SCN1A | 1035-Q | Probably Benign - (p.Q1035H - rs144013543) | 3 | SCN5A NM_198056 | Sudden adult death syndrome (p.C982R - 16712702) |
SCN1A | 1038-F | Other Disease Phenotype - Autism ? (p.F1038L - 12610651) | 2 | ||
SCN1A | 1050-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A997T - 20129283) Sudden infant death syndrome (p.A997S - 11710892) |
SCN1A | 1051-L | None | 2 | CACNA1A X99897 | Episodic ataxia 2 (p.M798T - 20129625) |
SCN1A | 1058-K | None | 2 | SCN5A NM_198056 | Cardiac conduction disease (p.P1008S - 20025708) |
SCN1A | 1065-H | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
SCN1A | 1067-A | Benign - (p.A1067T - rs2298771) | 2 | ||
SCN1A | 1068-E | Epilepsy - Dravet syndrome (p.E1068K - 18930999) | 2 | ||
SCN1A | 1073-L | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.R1023H - 16344400) |
SCN1A | 1091-S | None | 1 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A1089S - 17397049) |
SCN1A | 1097-I | None | 2 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (S/T - LDGA) |
SCN1A | 1113-V | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
SCN1A | 1121-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E1053K - 11901046) |
SCN1A | 1123-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.D1055G - 20129283) |
SCN1A | 1124-F | Probably Benign - (p.F1124C - rs147970328) | 2 | ||
SCN1A | 1127-L | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.E1170K - 17696120) |
SCN1A | 1137-D | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.T1069M - 15840476) |
SCN1A | 1145-L | None | 2 | SCN5A NM_198056 | Atrial fibrillation ? (p.T1131I - 18378609) |
SCN1A | 1153-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E1138A - 19862833) |
SCN1A | 1155-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.S1140T - 20129283) |
SCN1A | 1161-A | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.L1123F - 19763161) |
SCN1A | 1168-V | Probably Benign - (p.V1168I - rs146374754) | 1 | ||
SCN1A | 1174-T | Other Disease Phenotype - Hemiplegic migraine (p.T1174S - 18021921, rs121918799) | 1 | ||
SCN1A | 1179-A | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.D1166N - 19716085) |
SCN1A | 1184-G | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.Q1264H - 17696120) |
SCN1A | 1188-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1175C - HGOL) |
SCN1A | 1193-Q | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.A1180V - 19808398) |
SCN1A | 1195-N | Probably Benign - (p.N1195Y - rs143193348) | 4 | ||
SCN1A | 1197-E | None | 4 | SCN9A NM_002977 | Dravet syndrome ? (p.E1160Q - 19763161) |
SCN1A | 1199-G | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.A1186T - 19996378) |
SCN1A | 1204-W | Epilepsy - Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445, rs121917930) | 6 | ||
SCN1A | 1206-N | None | 8 | SCN5A NM_198056 | Sudden unexplained nocturnal death syndrome (p.R1193Q - 11823453) |
SCN1A | 1207-L | Epilepsy - Myoclonic epilepsy of infancy (p.L1207P - 18413471, rs121917963) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) |
SCN1A | 1208-R | None | 9 | SCN5A NM_198056 | Ventricular tachycardia (p.R1195H - 19632629) |
SCN1A | 1210-T | Epilepsy - Myoclonic epilepsy of infancy (p.T1210K - 19350499, rs121918738) | 9 | ||
SCN1A | 1212-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1199S - 19716085) |
SCN1A | 1219-W | None | 9 | SCN5A NM_198056 | Sudden cardiac death (p.W1206C - 18071069) |
CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) | ||||
SCN1A | 1221-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.E1211K - 19786696) |
SCN1A | 1231-S | Epilepsy - Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) | 9 | ||
SCN1A | 1232-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1219N - 20129283) |
SCN1A | 1233-G | Epilepsy - Myoclonic epilepsy of infancy (p.G1233R - 12821740, rs121917911) | 9 | ||
SCN1A | 1238-E | Epilepsy - Myoclonic epilepsy of infancy (p.E1238D - 17347258, rs121917973) | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1225K - 12106943) |
SCN1A | 1239-D | Epilepsy - Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) | 9 | ||
SCN1A | 1241-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.Y1228H - 20129283) |
SCN1A | 1244-Q | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.E1231K - 15840476) |
SCN1A | 1245-R | Epilepsy - Myoclonic epilepsy of infancy (p.R1245Q - 17054684, rs121917912) | 7 | SCN5A NM_198056 | Brugada syndrome (p.R1232Q - 20129283) Ventricular fibrillation, idiopathic ? (p.R1232W - 9521325) |
SCN1A | 1249-K | Epilepsy - Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) | 8 | SCN5A NM_198056 | Brugada syndrome (p.K1236N - 11901046) Brugada syndrome ? (p.K1236R - 21126620) |
SCN1A | 1250-T | Epilepsy - Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081, rs140731963) | 8 | ||
SCN1A | 1252-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1239P - 20129283) |
SCN1A | 1253-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1240Q - 11901046) |
SCN1A | 1254-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1241S - 19862833) |
SCN1A | 1255-A | Epilepsy - Dravet syndrome (p.A1255D - 18930999) | 9 | ||
SCN1A | 1256-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1243N - 20129283) |
SCN1A | 1260-T | Epilepsy - Dravet syndrome (p.T1260P - 20431604, rs121918739) | 9 | ||
SCN1A | 1262-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1249D - 20129283) |
SCN1A | 1263-F | Epilepsy - Myoclonic epilepsy of infancy (p.F1263L - 12566275, rs121918752) | 9 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.F1250L - 11997281) |
SCN1A | 1265-L | Epilepsy - Myoclonic epilepsy of infancy (p.L1265P - 12083760, rs121918794) | 9 | ||
SCN1A | 1266-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1253G - 20129283) |
SCN1A | 1270-K | Epilepsy - Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608, rs121918626) | 9 | ||
SCN1A | 1274-Y | Epilepsy - Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) | 9 | ||
SCN1A | 1275-G | Epilepsy - Dravet syndrome (p.G1275V - 18930999) | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1262S - 15338453) |
SCN1A | 1276-Y | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
SCN1A | 1284-W | Epilepsy - Dravet syndrome (p.W1284S - 18930999) | 9 | SCN5A NM_198056 | Brugada syndrome (p.W1271C - 20129283) |
SCN1A | 1287-L | Epilepsy - Dravet syndrome (p.L1287P - 20431604, rs121918740) | 9 | ||
SCN1A | 1288-D | None | 9 | SCN5A NM_198056 | Atrial standstill (p.D1275N - 12522116) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) | ||||
SCN1A | 1291-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1278N - 19841300) |
SCN1A | 1292-V | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
SCN1A | 1294-V | None | 9 | SCN5A NM_198056 | Brugada syndrome ? (p.V1281F - 21126620) |
SCN1A | 1296-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1283M - 19716085) |
SCN1A | 1300-T | Probably Benign - (p.T1300I - rs146878122) | 7 | ||
SCN1A | 1301-A | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.A1288G - 20129283) |
SCN1A | 1304-L | None | 7 | SCN9A NM_002977 | Dravet syndrome ? (p.L1267V - 19763161) |
SCN1A | 1305-G | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
SCN1A | 1306-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.F1293S - 11901046) |
SCN1A | 1308-E | Other Disease Phenotype - Febrile seizures (p.E1308D - 19522081, rs121917910) | 8 | SCN5A NM_198056 | Long QT syndrome (p.E1295K - 11304498) |
SCN1A | 1309-L | Epilepsy - Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752, rs121918801) | 9 | ||
SCN1A | 1311-A | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.P1298L - 14523039) |
SCN1A | 1313-K | Probably Benign - (p.K1313Q - rs150017890) | 9 | ||
SCN1A | 1316-R | Epilepsy - Dravet syndrome (p.R1316S - 18930999) | 9 | SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) | ||||
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | ||||
SCN1A | 1317-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1304M - 10508990) |
SCN1A | 1319-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) | ||||
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | ||||
SCN1A | 1321-L | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.L1308F - 18599870) |
SCN1A | 1322-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1312T - 19783390) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) | ||||
SCN1A | 1324-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1311P - 20129283) |
SCN1A | 1326-A | Epilepsy - Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318, rs121918803) | 9 | ||
SCN1A | 1328-S | Epilepsy - Dravet syndrome (p.S1328P - 18930999) | 9 | ||
SCN1A | 1329-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1319Q - 15048894) |
SCN1A | 1332-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1319V - 12106943) |
SCN1A | 1335-V | Epilepsy - Myoclonic epilepsy of infancy (p.V1335M - 18413471, rs121917960) | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) |
SCN1A | 1336-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1323G - 20129283) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1299F - 17145499) | ||||
SCN1A | 1337-V | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
SCN1A | 1338-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1325S - 8541846) |
SCN1A | 1339-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1326S - 19716085) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) | ||||
SCN1A | 1340-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1330F - 12243921) |
SCN1A | 1342-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G1329S - 21216356) |
SCN1A | 1343-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1330P - 11535573, p.A1330T - 12566525) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) | ||||
SCN1A | 1345-P | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.P1332L - 14676229) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) | ||||
SCN9A NM_002977 | Erythermalgia, primary (p.P1308L - 20429905) | ||||
SCN1A | 1346-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1333Y - 16922724) |
SCN1A | 1347-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1334V - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) | ||||
SCN1A | 1351-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1338V - 19716085) |
SCN1A | 1353-V | Epilepsy - Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444, rs121917954) | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1340I - 20129283) |
SCN1A | 1354-C | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
SCN1A | 1355-L | Epilepsy - Myoclonic epilepsy of infancy (p.L1355P - 14738421, rs121918776) | 9 | ||
SCN1A | 1357-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1344L - 20129283, p.F1344S - 16616735) |
SCN1A | 1358-W | Epilepsy - Myoclonic epilepsy of infancy (p.W1358S - 18413471, rs121917961) | 9 | SCN5A NM_198056 | Brugada syndrome (p.W1345C - 20339501) |
SCN1A | 1359-L | Probably Benign - (p.L1359Q - rs112767060) | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1346I - 20129283, p.L1346P - 20129283) |
SCN1A | 1363-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1350T - 12845244) |
SCN1A | 1364-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M1351R - 20129283) |
SCN1A | 1365-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
SCN1A | 1366-V | Epilepsy - Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202, rs121918805) | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1353M - 20129283) |
SCN1A | 1367-N | Epilepsy - Dravet syndrome (p.N1367K - 18930999, rs121918760) | 9 | ||
SCN1A | 1371-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1358W - 20129283) |
SCN1A | 1372-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1359N - 20129283) |
SCN1A | 1373-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1360C - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) | ||||
SCN1A | 1376-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1363Y - 16764707) |
SCN1A | 1380-T | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.D1463N - 12891677) |
SCN1A | 1390-V | Epilepsy - Myoclonic epilepsy of infancy (p.V1390M - 12083760, rs121917986) | 4 | ||
SCN1A | 1391-N | Epilepsy - Dravet syndrome (p.N1391S - 18930999) | 5 | ||
SCN1A | 1392-N | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.N1380K - HGOL) |
SCN1A | 1393-H | Epilepsy - Myoclonic epilepsy of infancy (p.H1393P - 17129991) | 4 | ||
SCN1A | 1394-T | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.S1382I - 12106943) |
SCN1A | 1395-D | Epilepsy - Myoclonic epilepsy of infancy (p.D1395Y - 21114141) | 4 | ||
SCN1A | 1396-C | Epilepsy - Myoclonic epilepsy of infancy (p.C1396G - 17347258, rs121917987) | 5 | ||
SCN1A | 1404-E | Epilepsy - Myoclonic epilepsy of infancy (p.E1404A - 17129991) | 3 | ||
SCN1A | 1406-A | None | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
SCN1A | 1414-N | Epilepsy - Myoclonic epilepsy of infancy (p.N1414Y - 17561957, rs121917925) | 9 | ||
SCN1A | 1416-D | Epilepsy - Dravet syndrome (p.D1416G - 18930999) | 9 | ||
SCN1A | 1418-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1405L - 12106943, p.V1405M - 20129283) |
SCN1A | 1419-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1406R - 12106943, p.G1406E - 20129283) |
SCN1A | 1421-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1408R - 11748104) |
SCN1A | 1422-Y | Epilepsy - Myoclonic epilepsy of infancy (p.Y1422C - 17054684, rs121917913) | 9 | SCN5A NM_198056 | Brugada syndrome (p.Y1409C - 20129283) |
SCN1A | 1425-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1412F - 20129283) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) | ||||
SCN1A | 1426-L | Epilepsy - Myoclonic epilepsy of infancy (p.L1426R - 17054684, rs121917944) | 9 | ||
SCN1A | 1428-V | Other Disease Phenotype - Febrile seizures (p.V1428A - 11524484, rs121918627) | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) |
SCN1A | 1431-F | Epilepsy - Dravet syndrome (p.F1431I - 18930999) | 9 | ||
SCN1A | 1432-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1419E - 20129283) |
CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.E1115K - 20817017) | ||||
SCN1A | 1433-G | Epilepsy - Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359, rs121917908) | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1420R - 20129283) Brugada syndrome ? (p.G1420V - 21126620) |
SCN1A | 1434-W | Epilepsy - Myoclonic epilepsy of infancy (p.W1434R - 12083760, rs121918789) | 9 | ||
SCN1A | 1437-I | Epilepsy - Dravet syndrome (p.I1437M - 18930999) | 9 | ||
SCN1A | 1440-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1427S - 20129283) |
SCN1A | 1441-A | Epilepsy - Myoclonic epilepsy of infancy (p.A1441P - 17347258, rs121917974) | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1428V - 20129283) |
SCN1A | 1445-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1432G - 10727653) Long QT syndrome (p.R1432S - 19716085) |
SCN1A | 1446-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1433V - 20129283) |
SCN1A | 1450-Q | Epilepsy - Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760, rs121918790) | 9 | ||
SCN1A | 1451-P | Epilepsy - Myoclonic epilepsy of infancy (p.P1451L - 17054684, rs121917945) | 9 | SCN5A NM_198056 | Brugada syndrome (p.P1438L - 18156160) |
SCN1A | 1454-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1441Q - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) | ||||
SCN1A | 1461-L | Epilepsy - Myoclonic epilepsy of infancy (p.L1461I - 12821740, rs121918772) | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1448L - 20129283, p.I1448T - 20129283) |
SCN1A | 1462-Y | Epilepsy - Myoclonic epilepsy of infancy (p.Y1462C - 18413471, rs121917962) | 9 | SCN5A NM_198056 | Brugada syndrome (p.Y1449C - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) | ||||
SCN1A | 1463-F | Epilepsy - Myoclonic epilepsy of infancy (p.F1463S - 12821740, rs121917946) | 9 | ||
SCN1A | 1464-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1451D - 20129283) |
SCN1A | 1465-I | Probably Benign - (p.I1465V - rs138231868) | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
SCN1A | 1470-G | Epilepsy - Myoclonic epilepsy of infancy (p.G1470W - 17561957, rs121917924) | 9 | ||
SCN1A | 1471-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1458Y - 15840476) |
SCN1A | 1475-L | Epilepsy - Myoclonic epilepsy of infancy (p.L1475S - 17054684, rs121917947) | 9 | ||
SCN1A | 1476-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1463Y - 20129283) |
SCN1A | 1478-F | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
SCN1A | 1480-G | Epilepsy - Myoclonic-astatic epilepsy (p.G1480V - 17347258, rs121917996) | 9 | ||
SCN1A | 1481-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1468F - 20129283) |
SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) | ||||
SCN1A | 1483-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.I1473M - 19786696) |
SCN1A | 1484-D | Epilepsy - Dravet syndrome (p.D1484G - 18930999) | 9 | ||
SCN1A | 1485-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1472S - 19716085) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) | ||||
SCN1A | 1486-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1473C - 18060054, p.F1473S - 20339117) |
SCN9A NM_002977 | Erythermalgia, primary (p.F1449V - 15958509) | ||||
SCN1A | 1489-Q | Other Disease Phenotype - Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696, rs121918628) | 7 | ||
SCN1A | 1491-K | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
SCN1A | 1494-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G1481E - 15840476) |
SCN4A NM_000334 | Myotonia (p.G1306A - 8308722, p.G1306E - 8308722) Paramyotonia congenita (p.G1306V - 1310898) | ||||
SCN1A | 1498-I | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.I1461T - 17145499) |
SCN1A | 1499-F | Other Disease Phenotype - Hemiplegic migraine 2 (p.F1499L - 19332696, rs121918632) | 6 | SCN5A NM_198056 | Sudden adult death syndrome (p.F1486L - 17210839) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.F1462V - 17145499) | ||||
SCN1A | 1500-M | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.M1487L - 19716085) |
SCN1A | 1501-T | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1488R - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.T1464I - 17145499) | ||||
SCN1A | 1502-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1489D - 19716085) |
SCN1A | 1503-E | Epilepsy - Myoclonic epilepsy of infancy (p.E1503K - 19783390) | 4 | ||
SCN1A | 1506-K | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.K1493R - 19167345) |
SCN1A | 1507-Y | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.Y1494N - 18341814) |
SCN1A | 1508-Y | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.Y1495S - 19716085) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1086C - 10590402) Malignant hyperthermia (p.R1086H - 9199552, p.R1086S - 20431982) | ||||
SCN1A | 1510-A | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
SCN1A | 1511-M | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.M1498T - 16414944, p.M1498V - 19716085) |
SCN1A | 1514-L | Epilepsy - Dravet syndrome (p.L1514S - 20522430, rs121918764) | 2 | SCN5A NM_198056 | Long QT syndrome (p.L1501V - 10973849) |
SCN1A | 1515-G | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.G1502S - 12106943) |
SCN1A | 1516-S | Probably Benign - (p.S1516L - rs139300715) | 4 | ||
SCN1A | 1518-K | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.K1505N - 19716085) |
SCN1A | 1524-P | Probably Benign - (p.P1524T - rs143088184) | 5 | ||
SCN1A | 1525-R | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.R1512W - 10690282) |
SCN1A | 1534-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1521K - 20129283) |
SCN1A | 1538-V | Epilepsy - Dravet syndrome (p.V1538I - 18930999) | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1525M - 20129283) |
SCN1A | 1539-T | Epilepsy - Dravet syndrome (p.T1539P - 18076640) | 9 | ||
SCN1A | 1543-F | Epilepsy - Cryptogenic focal epilepsy (p.F1543S - 17347258, rs121917992) | 9 | ||
SCN1A | 1544-D | Epilepsy - Dravet syndrome (p.D1544A - 18930999) | 9 | ||
SCN1A | 1545-I | Epilepsy - Myoclonic epilepsy of infancy (p.I1545V - 17347258, rs121917975) | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1532I - 19716085) |
SCN1A | 1548-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
SCN1A | 1551-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
SCN1A | 1558-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
SCN1A | 1561-E | Epilepsy - Dravet syndrome (p.E1561K - 18930999) | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1548K - 20129283) |
SCN1A | 1566-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1553R - 21321465) |
SCN1A | 1571-T | Probably Benign - (p.T1571I - rs112547129) | 9 | ||
SCN1A | 1573-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1560F - 19716085) |
SCN2A NM_021007 | Neonatal-infantile seizures (p.L1563V - 12243921) | ||||
SCN1A | 1575-R | Other Disease Phenotype - Rasmussen encephalitis (p.R1575C - 18031552, rs121918807) | 9 | SCN9A NM_002977 | Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) |
SCN1A | 1579-V | Epilepsy - Dravet syndrome (p.V1579E - 18930999) | 9 | ||
SCN1A | 1581-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
SCN1A | 1584-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1571C - 20129283) |
SCN1A | 1586-G | Epilepsy - Dravet syndrome (p.G1586E - 18930999, rs121918742) | 9 | ||
SCN1A | 1587-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1574K - 19808440) |
SCN1A | 1588-C | Epilepsy - Myoclonic epilepsy of infancy (p.C1588R - 17561957, rs121917919) | 9 | ||
SCN1A | 1595-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1582P - 19843921) |
SCN1A | 1596-R | Epilepsy - Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999, rs121917993) | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1583C - 20129283, p.R1583H - 20129283) |
SCN1A | 1606-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1593M - 19716085) |
SCN2A NM_021007 | Neonatal-infantile seizures ? (p.I1596S - 17386050) | ||||
SCN1A | 1607-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1594S - 19716085) |
SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) | ||||
SCN1A | 1608-D | Epilepsy - Myoclonic epilepsy of infancy (p.D1608Y - 17561957, rs121917915) | 9 | SCN5A NM_198056 | Atrioventricular conduction block (p.D1595N - 11804990) Cardiomyopathy, dilated (p.D1595H - 15671429) |
SCN1A | 1609-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1596I - 19716085) |
SCN1A | 1610-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1597M - 19862833) |
SCN1A | 1611-V | Epilepsy - Myoclonic epilepsy of infancy (p.V1611F - 12566275, rs121918630) | 9 | ||
SCN1A | 1612-V | Epilepsy - Dravet syndrome (p.V1612I - 18930999, rs121918808) | 9 | ||
SCN1A | 1615-S | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
SCN1A | 1616-I | Epilepsy - Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) | 9 | ||
SCN1A | 1617-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1604M - 20129283) |
SCN1A | 1621-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
SCN1A | 1622-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1609W - 16922724) |
SCN1A | 1624-L | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
SCN1A | 1626-E | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.Q1613L - 20129283) |
SCN1A | 1630-V | Epilepsy - Myoclonic epilepsy of infancy (p.V1630M - 17561957, rs121917914) | 5 | SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) |
SCN1A | 1632-P | Epilepsy - Myoclonic epilepsy of infancy (p.P1632S - 12566275, rs121918755) | 6 | ||
SCN1A | 1633-T | None | 7 | SCN5A NM_198056 | Cardiac conduction disease (p.T1620K - 18065446) Ventricular fibrillation, idiopathic (p.T1620M - 9521325) |
SCN1A | 1636-R | Epilepsy - Lennox-Gastaut syndrome (p.R1636Q - 17347258, rs121917995) | 6 | SCN5A NM_198056 | Long QT syndrome (p.R1623Q - 9506831, p.R1623L - 10973849) |
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | ||||
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | ||||
SCN1A | 1637-V | Other Disease Phenotype - Hepatic coma (p.V1637E - 20392657, rs121918810) | 6 | ||
SCN1A | 1639-R | Epilepsy - Dravet syndrome (p.R1639G - 18930999) | 6 | SCN5A NM_198056 | Long QT syndrome (p.R1626H - 18752142, p.R1626P - 10961955) |
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) | ||||
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | ||||
SCN1A | 1642-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.R1629Q - 20129283, p.R1629G - 19843921) |
SCN1A | 1644-G | None | 7 | SCN5A NM_198056 | Long QT syndrome, malignant perinatal variant (p.G1631D - 19808432) |
SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.G1607R - 21079636) | ||||
SCN1A | 1645-R | Epilepsy - Myoclonic epilepsy of infancy (p.R1645Q - 17347258, rs121917976) | 7 | SCN5A NM_198056 | Nodal rhythm (p.R1632H - 14523039) |
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) | ||||
SCN1A | 1646-I | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
SCN1A | 1648-R | Epilepsy - Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760, rs121918622) | 9 | CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) |
SCN1A | 1649-L | Other Disease Phenotype - Hemiplegic migraine (p.L1649Q - 17397047) | 9 | ||
SCN1A | 1655-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1642E - 20129283) |
SCN1A | 1656-I | Epilepsy - Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444, rs121917955) | 9 | ||
SCN1A | 1657-R | Epilepsy - Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992, rs121917994) | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1644C - 16344400) Long QT syndrome (p.R1644H - 8541846) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) | ||||
SCN1A | 1658-T | Epilepsy - Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957, rs121917922) | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1645M - 10508990) |
SCN1A | 1661-F | Epilepsy - Myoclonic epilepsy of infancy (p.F1661S - 12754708, rs121918797) | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) |
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) | ||||
SCN1A | 1662-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1649V - 17081365) |
SCN1A | 1663-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1650F - 19716085) |
SCN1A | 1664-M | Epilepsy - Dravet syndrome (p.M1664K - 18930999, rs121918765) | 9 | SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.M1627K - 17145499) | ||||
SCN1A | 1665-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1652R - 17698727, p.M1652T - 19716085) |
SCN1A | 1668-P | Epilepsy - Myoclonic epilepsy of infancy (p.P1668A - 12821740, rs121917948) | 9 | ||
SCN1A | 1669-A | None | 9 | SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) | ||||
SCN1A | 1673-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1660V - 16414944) |
CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) | ||||
SCN1A | 1674-G | Epilepsy - Myoclonic epilepsy of infancy (p.G1674R - 12083760, rs121918792) | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1661R - 20129283/20129283) |
SCN1A | 1675-L | Epilepsy - Dravet syndrome (p.L1675R - 18930999) | 9 | ||
SCN1A | 1677-L | Epilepsy - Dravet syndrome (p.L1677F - 18930999) | 9 | ||
SCN1A | 1680-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1667I - 11274952) |
SCN1A | 1683-I | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
SCN1A | 1685-A | Epilepsy - Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275, rs121918744) | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1672Y - 20129283) |
SCN1A | 1687-F | Epilepsy - Myoclonic epilepsy of infancy (p.F1687S - 17561957) | 9 | CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) |
SCN1A | 1692-F | Epilepsy - Myoclonic epilepsy of infancy (p.F1692S - 14738421, rs121918778) | 9 | ||
SCN1A | 1693-A | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.A1680T - 16712702) |
SCN1A | 1694-Y | Epilepsy - Myoclonic epilepsy of infancy (p.Y1694C - 14738421, rs121918777) | 9 | ||
SCN1A | 1698-E | None | 6 | CACNA1A X99897 | Hemiplgic migraine ? (p.D1726N - 20837964) |
SCN1A | 1704-M | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
SCN1A | 1707-F | Epilepsy - Myoclonic epilepsy of infancy (p.F1707V - 17347258, rs121917977) | 9 | ||
SCN1A | 1709-T | Epilepsy - Myoclonic epilepsy of infancy (p.T1709I - 12566275, rs121918629) | 9 | ||
SCN1A | 1711-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1698T - 20129283) |
SCN1A | 1713-S | Epilepsy - Myoclonic epilepsy of infancy (p.S1713N - 16122630, rs121918816) | 9 | ||
SCN1A | 1714-M | Epilepsy - Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684, rs121917949) | 9 | ||
SCN1A | 1716-C | Epilepsy - Myoclonic epilepsy of infancy (p.C1716R - 17561957, rs121917926) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) |
SCN1A | 1718-F | None | 9 | SCN5A NM_198056 | Sudden infant death syndrome (p.F1705S - 18596570) |
SCN1A | 1719-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q1706H - 21321465) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) | ||||
SCN1A | 1721-T | Epilepsy - Myoclonic epilepsy of infancy (p.T1721R - 17347258, rs121917978) | 9 | ||
SCN1A | 1722-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T1709R - 20129283, p.T1709M - 17697823) |
SCN1A | 1723-S | None | 9 | SCN5A NM_198056 | Ventricular fibrillation, idiopathic (p.S1710L - 10940383) |
SCN1A | 1724-A | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
SCN1A | 1725-G | Epilepsy - Dravet syndrome (p.G1725C - 18930999) | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1712S - 20129283) |
SCN1A | 1726-W | Epilepsy - Myoclonic epilepsy of infancy (p.W1726R - 17347258, rs121917979) | 9 | ||
SCN1A | 1727-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1714G - 16266370) |
SCN1A | 1735-N | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.N1722D - 20031634) |
SCN1A | 1736-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1723N - 19716085) |
SCN1A | 1738-P | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P1725L - 19862833) |
SCN1A | 1741-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1728R - 20129283, p.C1728W - 20129283) |
SCN1A | 1742-D | Epilepsy - Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566, rs121918812) | 8 | ||
SCN1A | 1749-G | Epilepsy - Myoclonic epilepsy of infancy (p.G1749E - 12754708, rs121918798) | 3 | ||
SCN1A | 1753-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1739W - 19716085) |
SCN1A | 1754-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G1740R - 11901046) |
SCN1A | 1756-C | Epilepsy - Myoclonic epilepsy of infancy (p.C1756G - 19563458, rs121918809) | 5 | SCN9A NM_002977 | Congenital indifference to pain (p.C1719R - 20692858) |
SCN1A | 1757-G | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G1743E - 12106943) Brugada syndrome ? (p.G1743R - 12639704) |
SCN1A | 1758-N | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
SCN1A | 1760-S | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.A1746T - 20541041) |
SCN1A | 1761-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1747M - 20541041) |
SCN1A | 1762-G | Epilepsy - Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684, rs121917950) | 9 | ||
SCN1A | 1765-F | Epilepsy - Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) | 9 | ||
SCN1A | 1769-Y | Epilepsy - Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) | 9 | ||
SCN1A | 1771-I | Epilepsy - Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) | 9 | ||
SCN1A | 1773-S | Epilepsy - Myoclonic epilepsy of infancy (p.S1773F - 17054684, rs121917951) | 9 | ||
SCN1A | 1775-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1761H - 19716085, p.L1761F - 19716085) |
SCN1A | 1777-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1763M - 15485686) |
SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) | ||||
SCN1A | 1778-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1764F - 19808440) |
SCN1A | 1780-M | Epilepsy - Myoclonic epilepsy of infancy (p.M1780T - 12821740, rs121917952) | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1766L - 12123767) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | ||||
SCN1A | 1781-Y | Epilepsy - Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421, rs121918779) | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1767C - 16414944) |
SCN1A | 1782-I | Epilepsy - Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1768V - 12566525) |
SCN1A | 1783-A | Epilepsy - Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) | 9 | ||
SCN1A | 1785-I | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
SCN1A | 1786-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1772V - 19996378) |
SCN1A | 1787-E | Epilepsy - Myoclonic epilepsy of infancy (p.E1787K - 17561957) | 9 | ||
SCN1A | 1788-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1774S - 16038262) Long QT syndrome (p.N1774D - 19996378) |
SCN1A | 1791-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1777M - 11463728) |
SCN1A | 1793-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1779M - 15840476) |
SCN1A | 1795-E | Epilepsy - Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615, rs121918813) | 9 | ||
SCN1A | 1797-A | Probably Benign - (p.A1797V - rs141734753) | 9 | ||
SCN1A | 1798-E | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.E1784K - 10377081) |
SCN1A | 1800-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1786Q - 16712702) |
SCN1A | 1801-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.S1787N - 10973849) |
SCN1A | 1803-D | None | 8 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.A1874V - 16754686) |
SCN1A | 1804-D | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.D1790G - 9686753) |
SCN1A | 1808-F | Epilepsy - Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275, rs121918757) | 8 | ||
SCN1A | 1809-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.Y1795H - 11410597) Long QT syndrome (p.Y1795C - 11410597) |
SCN1A | 1812-W | Epilepsy - Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275, rs121918751) | 8 | ||
SCN1A | 1821-Q | None | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
SCN1A | 1831-F | Epilepsy - Myoclonic epilepsy of infancy (p.F1831S - 12566275, rs121918748) | 9 | ||
SCN1A | 1832-A | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1486P - 19578023) |
SCN1A | 1833-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1819N - 16922724) |
SCN1A | 1835-L | Epilepsy - Dravet syndrome (p.L1835F - 18930999) | 9 | ||
SCN1A | 1837-P | Probably Benign - (p.P1837L - rs149225252) | 8 | ||
SCN1A | 1838-P | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.P1824A - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) | ||||
SCN1A | 1839-L | None | 8 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L1825P - 12208804) |
SCN1A | 1840-N | None | 7 | SCN5A NM_198056 | Atrial fibrillation ? (p.R1826C - 18378609) Sudden infant death syndrome (p.R1826H - 11710892) |
SCN1A | 1844-P | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1500R - 12111638) |
SCN1A | 1846-K | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.Q1832E - HGOL) |
SCN1A | 1849-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1508P - 12111638) |
SCN1A | 1852-M | Epilepsy - Generalized epilepsy with febrile seizures plus (p.M1852T - 12919402, rs121918783) | 9 | ||
SCN1A | 1853-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1839G - 19716085) |
SCN1A | 1856-M | Epilepsy - Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640, rs144691638) | 8 | ||
SCN1A | 1857-V | Epilepsy - Generalised epilepsy with febrile seizures plus 2 (p.V1857L - 15715999, rs121918814) | 6 | ||
SCN1A | 1864-C | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.C1850S - 18252757) |
SCN1A | 1866-D | Epilepsy - Generalized epilepsy with febrile seizures plus (p.D1866Y - 15525788, rs121918815) | 7 | ||
SCN1A | 1867-I | Epilepsy - Generalized epilepsy with febrile seizures plus (p.I1867T - 18251839) | 8 | ||
SCN1A | 1875-V | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.V1861I - 20129283) |
SCN1A | 1878-E | Probably Benign - (p.E1878Q - rs148703212) | 6 | ||
SCN1A | 1879-S | Probably Benign - (p.S1879N - rs112244937) | 5 | ||
SCN1A | 1881-E | Epilepsy - Myoclonic epilepsy of infancy (p.E1881D - 14504318, rs121918804) | 5 | ||
SCN1A | 1886-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K1872N - 20129283) |
SCN1A | 1889-M | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.M1875T - 18929244) |
SCN1A | 1890-E | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
SCN1A | 1893-F | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
SCN1A | 1909-T | Epilepsy - Myoclonic epilepsy of infancy (p.T1909I - 12083760, rs121918793) | 4 | ||
SCN1A | 1911-K | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R1897W - 19716085) |
SCN1A | 1912-R | None | 4 | SCN2A NM_021007 | Autism ? (p.R1902C - 12610651) |
SCN1A | 1915-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1901Q - 19716085) |
SCN1A | 1918-S | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.S1904L - 18708744) |
SCN1A | 1922-I | Epilepsy - Myoclonic epilepsy of infancy (p.I1922T - 17347258, rs121917981) | 8 | ||
SCN1A | 1923-Q | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.Q1909R - 15840476) |
SCN1A | 1924-R | Benign - (p.R1924H - rs3749029) | 8 | ||
SCN1A | 1927-R | Epilepsy - Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) | 8 | SCN5A NM_198056 | Long QT syndrome (p.R1913H - 16414944) |
SCN1A | 1928-R | Epilepsy - Myoclonic epilepsy of infancy (p.R1928G - 18413471, rs121917956) | 8 | ||
SCN1A | 1938-A | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A1924T - 10690282) |
SCN1A | 1941-T | Probably Benign - (p.T1941M - rs146217168) | 1 | ||
SCN1A | 1949-G | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G1935S - 16267250) |
SCN1A | 1950-G | None | 0 | SCN5A NM_198056 | Brugada syndrome (p.E1938K - 20129283) |
SCN1A | 1955-I | Conflict - Autism ? (p.I1955T - 12610651, rs35735053) | 1 | ||
SCN1A | 1957-E | Epilepsy - Myoclonic epilepsy of infancy (p.E1957G - 14504318, rs121918802) | 1 | ||
SCN1A | 1961-I | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.A1949S - 15840476) |
SCN1A | 1963-R | None | 2 | SCN5A NM_198056 | Atrial fibrillation (p.V1951M - 18378609) Brugada syndrome (p.V1951L - 11901046) |
SCN1A | 1972-K | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.S1964F - 21126620) |
SCN1A | 1976-T | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.I1968S - 16344400) |
SCN1A | 1981-A | Probably Benign - (p.A1981D - rs148986284) | 1 | ||
SCN1A | 1984-P | Probably Benign - (p.P1984H - rs146733308) | 2 | ||
SCN1A | 1986-Y | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.Y1977N - 19716085) |
SCN1A | 1996-K | None | 1 | SCN5A NM_198056 | Atrial fibrillation (p.N1987K - 18088563) |
SCN1A | 2000-E | None | 1 | CACNA1A X99897 | Episodic ataxia 2 ? (p.R2091Q - 20663518) |
SCN1A | 2004-E | Probably Benign - (p.E2004K - rs143005035) | 2 | ||
SCN1A | 2008-G | None | 3 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.D2130N - 20817017) |
SCN2A (paralogue of LQTS gene SCN5A) | View alignment | ||||
Gene | Residue | Known Variants in SCN2A | Consensus | Paralogue | Disease-causing Variants in Paralogues |
SCN2A | 1-M | None | 5 | SCN1A AB093548 | Dravet syndrome (p.M1L - 18930999) |
SCN2A | 2-A | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.M1I - 20129283) |
SCN2A | 3-Q | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.A2T - 20609320) |
SCN2A | 10-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G9V - 16922724) |
SCN2A | 12-D | None | 2 | SCN9A NM_002977 | Erythermalgia, primary (p.Q10R - 19369487) |
SCN2A | 19-R | Benign - (p.R19K - rs17183814) | 3 | SCN5A NM_198056 | Long QT syndrome (p.R18Q - 19716085, p.R18W - 15840476) |
SCN2A | 27-Q | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R27T - 20729507) |
SCN2A | 28-R | None | 2 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) |
SCN5A NM_198056 | Brugada syndrome (p.R27H - 11901046) | ||||
SCN2A | 31-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E30G - 19716085) |
SCN2A | 34-A | Probably Benign - (p.A34T - rs144814658) | 3 | ||
SCN2A | 36-R | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G35S - 11960580) |
SCN2A | 40-E | None | 2 | SCN5A NM_198056 | Arrhythmia, lidocaine-induced (p.R43Q - 18848812) |
SCN2A | 43-D | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.A39V - 17224476) |
SCN2A | 46-D | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.E48K - 19716085) |
SCN2A | 50-P | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.P52S - 19716085) |
SCN2A | 51-K | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.R53Q - 19716085) |
SCN2A | 59-G | None | 3 | SCN1A AB093548 | Dravet syndrome (p.G58V - 18930999) |
SCN2A | 62-L | None | 3 | SCN1A AB093548 | Dravet syndrome (p.L61F - 18930999) |
SCN2A | 64-F | None | 2 | SCN1A AB093548 | Dravet syndrome (p.F63L - 20729507) |
SCN2A | 65-I | None | 3 | SCN9A NM_002977 | Febrile seizures (p.I62V - 19763161) |
SCN2A | 68-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.N70K - 20129283) |
SCN2A | 75-S | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S74P - 17561957) |
SCN2A | 79-E | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E78D - 12821740) |
SCN2A | 80-D | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D79H - 17347258) |
SCN2A | 82-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D84N - 20129283) |
SCN2A | 85-Y | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y84C - 17347258) |
SCN2A | 91-F | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F90S - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.F93S - 20129283) | ||||
SCN2A | 92-I | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I91T - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.I94S - 20129283) | ||||
SCN2A | 93-V | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V95I - 17081365) |
SCN2A | 102-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.R104Q - 11960580, p.R104W - 20129283) Long QT syndrome (p.R104G - 19716085) | ||||
SCN2A | 103-F | Probably Benign - (p.F103L - rs148222028) | 8 | ||
SCN2A | 104-S | Probably Benign - (p.S104N - rs139756067) | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S103G - 12566275) |
SCN2A | 107-P | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.N109K - 19843921) |
SCN2A | 111-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V113I - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) | ||||
SCN2A | 113-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T112I - 12566275) |
SCN5A NM_198056 | Long QT syndrome (p.S115G - 19716085) | ||||
SCN2A | 119-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R118S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R121Q - 20129283, p.R121W - 19606473) | ||||
SCN2A | 123-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V125L - 15840476) |
SCN2A | 124-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K126E - 12051963) |
SCN2A | 125-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I124N - 18930999) |
SCN2A | 134-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L136P - 17697823) |
SCN2A | 136-M | None | 9 | SCN5A NM_198056 | Atrial fibrillation (p.M138I - 18378609) |
SCN2A | 139-I | None | 9 | SCN4A NM_000334 | Myotonia (p.I141V - 19015483) |
SCN9A NM_002977 | Erythermalgia, primary (p.I136V - 17294067) | ||||
SCN2A | 144-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V146M - 20129283) |
SCN2A | 146-M | None | 9 | SCN1A AB093548 | Febrile seizures (p.M145T - 16326807) |
SCN2A | 152-P | None | 5 | SCN9A NM_002977 | Febrile seizures (p.P149Q - 19763161) |
SCN2A | 159-E | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.E161Q - 20129283, p.E161K - 12106943) |
SCN2A | 163-T | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T162P - 17054684) |
SCN2A | 164-G | None | 7 | SCN1A AB093548 | Dravet syndrome (p.G163E - 18076640) |
SCN2A | 169-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
SCN2A | 172-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258) |
SCN2A | 173-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K175N - 20129283) |
SCN2A | 174-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I176M - 19996378) |
SCN2A | 176-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A178G - 20129283) | ||||
SCN2A | 178-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) | ||||
SCN2A | 180-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C182R - 20129283) |
SCN2A | 181-L | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.F161L - 12891677) |
SCN2A | 183-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A185V - 20129283) Long QT syndrome (p.A185T - 15176425) |
SCN2A | 185-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T187I - 16325048) |
SCN2A | 188-R | Other Disease Phenotype - Febrile and afebrile seizures (p.R188W - 11371648, rs121917748) | 9 | SCN5A NM_198056 | Long QT syndrome (p.R190Q - 17905336, p.R190G - 15176425) |
SCN2A | 189-D | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D188V - 11254444) |
SCN2A | 191-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W190R - 14738421) |
SCN2A | 192-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) |
SCN2A | 195-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684) |
SCN2A | 200-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T199R - 17347258) |
SCN2A | 202-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A204V - 20129283) |
SCN2A | 210-L | None | 6 | SCN5A NM_198056 | Atrial standstill ? (p.L212P - 16188595) Brugada syndrome (p.L212Q - 20129283) |
SCN2A | 213-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V212A - 18076640) |
SCN2A | 214-S | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.S216L - 19412328) |
SCN9A NM_002977 | Erythermalgia, primary (p.S211P - 20123784) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) | ||||
SCN2A | 215-A | Probably Benign - (p.A215V - rs149024364) | 9 | ||
SCN2A | 217-R | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
SCN2A | 218-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T217K - 17054684) |
SCN5A NM_198056 | Nodal rhythm (p.T220I - 14523039) | ||||
SCN2A | 219-F | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) |
SCN9A NM_002977 | Erythermalgia, primary (p.F216S - 15955112) | ||||
SCN2A | 220-R | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.R222Q - 19412328) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) | ||||
SCN2A | 221-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V223L - 20129283) |
SCN2A | 223-R | Other Disease Phenotype - Neonatal-infantile seizures (p.R223Q - 15048894, rs121917752) | 9 | SCN5A NM_198056 | Cardiac conduction disease (p.R225W - 12574143) Long QT syndrome (p.R225Q - 16922724) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | ||||
SCN2A | 224-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A223E - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.A226V - 11901046) | ||||
SCN2A | 226-K | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
SCN2A | 227-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T226M - 17347258) |
SCN2A | 228-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I227S - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I230V - 11901046) Cardiac conduction disease (p.I230T - 20564468) | ||||
SCN2A | 230-V | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.V232I - 18599870) |
CACNA1H NM_021098 | Autism spectrum disorder ? (p.R212R - 16754686) | ||||
SCN2A | 231-I | None | 9 | SCN9A NM_002977 | Dravet syndrome ? (p.I228M - 19763161) |
SCN2A | 233-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G232S - 18930999) |
SCN2A | 237-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I239V - 15176425) |
SCN9A NM_002977 | Erythermalgia, primary (p.I234T - 20385509) | ||||
SCN2A | 238-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V240M - 19716085) |
SCN2A | 240-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | ||||
SCN2A | 241-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) |
SCN2A | 243-Q | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q245K - 15840476) |
SCN2A | 244-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S243Y - 18930999) |
SCN9A NM_002977 | Erythermalgia, primary (p.S241T - 16216943) | ||||
SCN2A | 245-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V247L - 19716085) |
SCN2A | 248-L | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
SCN2A | 252-M | Other Disease Phenotype - Neonatal-infantile seizures (p.M252V - 20371507) | 9 | ||
SCN2A | 253-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I252N - 15087100) |
SCN2A | 260-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S259R - 20431604) |
SCN2A | 261-V | Other Disease Phenotype - Neonatal-infantile seizures (p.V261M - 20371507) | 9 | ||
SCN2A | 263-A | Epilepsy - Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) | 9 | ||
SCN2A | 264-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine and epilepsy (p.L263V - 19220312) |
SCN2A | 266-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G265W - 12566275) |
SCN2A | 268-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q270K - 20129283) |
SCN2A | 270-F | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
SCN2A | 272-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
SCN2A | 273-N | None | 9 | SCN5A NM_198056 | Long QT syndrome & atrial fibrillation (p.N275K - 18452873) |
SCN2A | 274-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L276Q - 17697823) |
SCN2A | 275-R | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
SCN2A | 276-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.H278D - 20129283) |
SCN2A | 278-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) |
CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) | ||||
SCN2A | 280-Q | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R282C - 20129283, p.R282H - 11901046) |
SCN2A | 281-W | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) |
SCN2A | 282-P | None | 5 | SCN1A AB093548 | Dravet syndrome (p.P281L - 18930999, p.P281S - 18930999) |
SCN2A | 299-S | None | 2 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T297I - 12821740) |
SCN2A | 304-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G289S - 19716085) |
SCN2A | 307-F | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G292S - 15277732) |
SCN2A | 309-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V294M - 11901046) |
SCN2A | 313-I | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.G298S - 11804990) |
SCN2A | 318-E | Probably Benign - (p.E318K - rs149987700) | 3 | ||
SCN2A | 320-I | None | 3 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P314S - 17156077) |
SCN2A | 322-D | Other Disease Phenotype - Neonatal-infantile seizures (p.D322N - 19783390) | 3 | ||
SCN2A | 324-S | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R322I - 17561957) |
SCN2A | 327-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.L315P - 20129283) |
SCN2A | 328-F | Other Disease Phenotype - Neonatal-infantile seizures (p.F328V - 19783390) | 6 | ||
SCN2A | 329-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K317N - 14625171) |
SCN2A | 331-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G319S - 11901046) |
SCN2A | 332-Q | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.T320N - 20129283) |
SCN2A | 337-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.L325R - 15890323) |
SCN2A | 342-S | None | 4 | SCN1A AB093548 | Dravet syndrome (p.S340F - 18930999) |
SCN2A | 345-G | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G343D - 12566275) |
SCN2A | 347-C | None | 5 | SCN1A AB093548 | Dravet syndrome (p.C345R - 18930999) |
SCN2A | 348-P | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.P336L - 17075016) |
SCN2A | 352-I | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.R340Q - 15176425, p.R340W - 19716085) |
SCN2A | 353-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
SCN2A | 355-K | None | 8 | SCN3A NM_006922 | Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) |
SCN2A | 357-G | None | 8 | SCN1A AB093548 | Dravet syndrome (p.G355D - 18930999) |
SCN2A | 358-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R356G - 17561957) |
SCN2A | 359-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N357I - 18930999) |
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) | ||||
SCN2A | 360-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P358T - 17561957) |
SCN2A | 363-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G351D - 20129283, p.G351V - 12051963) |
SCN2A | 365-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T353I - 17198989) |
SCN2A | 368-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D366E - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.D356N - 16325048) | ||||
SCN2A | 379-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R367C - 12106943, p.R367L - 20129283) Sudden unexplained nocturnal death syndrome (p.R367H - 11823453) | ||||
SCN2A | 380-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L378Q - 18930999) |
SCN2A | 381-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M369K - 12106943) |
SCN2A | 382-T | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.T370M - 16712702) |
SCN2A | 385-F | Benign - (p.F385Y - rs2228988) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F383L - 17054684) |
SCN2A | 386-W | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W374G - 20129283) |
SCN2A | 388-N | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R376H - 15851228) |
SCN2A | 390-Y | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195) |
SCN2A | 395-R | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) |
SCN2A | 397-A | None | 8 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.A395P - 17347258) |
SCN2A | 398-G | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.G386R - 20129283, p.G386E - 20129283) |
SCN2A | 405-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F403L - 17347258) |
SCN2A | 408-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V406F - 19589774) |
SCN5A NM_198056 | Brugada syndrome (p.V396A - 20129283, p.V396L - 20129283) | ||||
SCN2A | 409-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I397T - 19716085) |
SCN2A | 412-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation during acute myocardial infarction (p.G400A - 17675083) |
CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) | ||||
SCN2A | 414-F | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) |
SCN2A | 415-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y413N - 17347258) |
SCN2A | 416-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L404Q - 15840476) |
SCN2A | 418-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N406S - 15877619) Long QT syndrome (p.N406K - 19716085/15840476) |
SCN9A NM_002977 | Erythermalgia, primary (p.N395K - 15955112/17263810) | ||||
SCN2A | 421-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L409V - 19716085) |
SCN2A | 422-A | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G402S - 15863612) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) | ||||
SCN2A | 423-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V411M - 10961955) |
SCN4A NM_000334 | Myotonia (p.V445M - 9392583) | ||||
SCN9A NM_002977 | Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) | ||||
SCN2A | 424-V | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.V422E - 17347258) |
SCN2A | 425-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A413E - 16414944, p.A413T - 16414944) |
SCN2A | 426-M | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G406R - 15454078) |
SCN2A | 428-Y | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740) |
CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) | ||||
SCN2A | 430-E | Other Disease Phenotype - Neonatal-infantile seizures ? (p.E430Q - 17386050) | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) |
SCN2A | 440-E | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.E428K - 18378609) |
SCN2A | 451-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E439K - 20129283) |
SCN2A | 453-L | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
SCN2A | 457-Q | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.H445D - 18378609) |
SCN2A | 464-A | Probably Benign - (p.A464P - rs1821219) | 3 | ||
SCN2A | 481-G | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A480T - 15048902) |
SCN2A | 482-V | None | 2 | CACNA1A X99897 | Spinocerebellar ataxia 6 (p.A405T - 20682717) |
SCN2A | 488-S | None | 4 | SCN5A NM_198056 | Sudden adult death syndrome ? (p.L461V - 16712702) |
SCN2A | 489-V | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E462A - 19716085, p.E462K - 15840476) |
SCN2A | 495-S | Probably Benign - (p.S495C - rs140661535) | 4 | ||
SCN2A | 497-S | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.N470K - 18378609) |
SCN2A | 515-G | None | 2 | SCN9A NM_002977 | Febrile seizures ? (p.S490N - 19763161) |
SCN2A | 516-E | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P492S - 17156077) |
SCN2A | 528-S | None | 2 | SCN1A AB093548 | Dravet syndrome (p.S525F - 18930999) |
SCN2A | 530-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D501G - 20129283) |
SCN2A | 538-R | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.H515Y - 15833171) |
SCN2A | 542-E | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.E519K - 19763161) |
SCN2A | 545-R | None | 1 | SCN1A AB093548 | Autism ? (p.R542Q - 12610651) |
SCN2A | 560-L | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.T512I - 12569159) |
SCN2A | 562-I | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.G514C - 11234013) |
SCN2A | 571-R | Probably Benign - (p.R571H - rs138138150) | 3 | SCN5A NM_198056 | Long QT syndrome (p.R523C - 18752142) |
SCN2A | 574-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R526H - 20129283) |
SCN2A | 575-A | Other Disease Phenotype - Neonatal-infantile seizures (p.A575V - 19786696) | 2 | ||
SCN2A | 578-F | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.F530V - 19716085) |
SCN2A | 580-F | None | 2 | SCN5A NM_198056 | Sudden infant death syndrome (p.F532C - 18596570) |
SCN2A | 585-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R535Q - 19716085) |
SCN2A | 587-I | Probably Benign - (p.I587L - rs148275498) | 3 | ||
SCN2A | 593-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.F543L - 20129283) |
SCN2A | 601-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A551T - 16155735) |
SCN2A | 602-E | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G552R - 20129283) |
SCN2A | 605-D | None | 3 | SCN5A NM_198056 | Brugada syndrome ? (p.E555K - 12639704) |
SCN2A | 607-R | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus ? (p.R604H - 19236456) |
SCN2A | 614-P | Probably Benign - (p.P614L - rs143734912) | 3 | ||
SCN2A | 616-R | None | 2 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A570V - 17397049) |
SCN2A | 617-H | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.L567Q - 10711933) |
SCN2A | 621-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R569W - 19716085) |
SCN2A | 624-N | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G579R - 16414944) |
SCN2A | 629-S | None | 2 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.S626G - 17347258) |
SCN2A | 630-R | Probably Benign - (p.R630H - rs150040573) | 2 | ||
SCN2A | 631-A | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A586T - 21321465) |
SCN2A | 636-P | None | 1 | SCN9A NM_002977 | Erythermalgia, primary (p.P610T - 15955112) |
CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.P618L - 15048902) | ||||
SCN2A | 669-L | None | 2 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L618F - 11997281) |
SCN2A | 670-L | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.L619F - 12673799) |
SCN2A | 671-P | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.R620C - 20129283) |
SCN2A | 674-T | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.T632M - 20129283) |
SCN2A | 679-E | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.P637L - 15840476) |
SCN2A | 681-R | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G639R - 16922724/19716085) |
SCN9A NM_002977 | Febrile seizures (p.K655R - 19763161) | ||||
SCN2A | 682-K | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.P640A - 20129283) |
SCN2A | 684-R | Probably Benign - (p.R684Q - rs146949852) | 2 | ||
SCN2A | 689-H | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.A647D - 20129283) |
SCN2A | 690-V | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.P648L - 15840476) |
SCN2A | 696-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E654K - 19716085) |
SCN2A | 697-D | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.E655K - 18378609) |
SCN2A | 698-P | Probably Benign - (p.P698T - rs112873552) | 3 | ||
SCN2A | 703-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R661W - 20129283) |
SCN2A | 710-I | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.I684M - 19763161) |
SCN2A | 711-L | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.G490R - 17224476) |
SCN2A | 715-M | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.L673P - 19716085) |
SCN2A | 722-R | None | 3 | SCN5A NM_198056 | Sudden infant death syndrome (p.R680H - 17210839) |
SCN2A | 723-Q | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.H681P - 11901046) |
SCN2A | 725-C | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.C683G - 20129283) |
SCN9A NM_002977 | Dravet syndrome ? (p.C699Y - 19763161) | ||||
CACNA1H NM_021098 | Epilepsy, childhood absence (p.R744Q - 12891677) | ||||
SCN2A | 726-P | None | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
SCN2A | 731-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R689C - 19716085, p.R689H - 16414944) |
SCN2A | 733-A | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.A691T - 15176425) |
SCN2A | 734-N | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q692K - 12566525) |
SCN2A | 739-W | None | 6 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G773D - 12891677) |
SCN2A | 743-K | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P701L - 19716085) |
SCN2A | 749-K | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
SCN2A | 750-H | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G784S - 12891677) |
SCN2A | 751-L | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.G709V - 20541041) |
SCN2A | 759-P | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P768L - 19350499) |
SCN5A NM_198056 | Brugada syndrome (p.P717L - 20129283) | ||||
SCN2A | 765-I | None | 9 | SCN9A NM_002977 | Febrile seizures ? (p.I739V - 19763161) |
SCN2A | 773-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T731I - 19716085) |
CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) | ||||
SCN2A | 774-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L783P - 17347258) |
SCN2A | 777-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A735E - 11901046, p.A735T - 20609320) Sudden unexplained nocturnal death syndrome (p.A735V - 11823453) |
SCN2A | 779-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E788K - 18076640) |
SCN2A | 781-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682) |
SCN2A | 788-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E746K - 20129283) |
SCN2A | 792-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q750R - 19716085) |
SCN2A | 794-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G752R - 12693506) |
SCN2A | 797-V | Probably Benign - (p.V797I - rs142128956) | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.V831M - 12891677) |
SCN2A | 799-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T808S - 12566275) |
SCN2A | 800-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G758E - 20129283) |
SCN2A | 801-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I759F - 19862833) |
SCN2A | 803-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T812R - 17054684) |
SCN2A | 805-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
SCN2A | 806-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M764R - 20129283) |
SCN2A | 814-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D772N - 19716085) |
CACNA1H NM_021098 | Epilepsy, childhood absence (p.G848S - 12891677) | ||||
SCN2A | 815-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P773S - 20129283) |
SCN2A | 821-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q779K - 20541041) |
SCN2A | 831-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.V789I - 20129283) |
SCN2A | 834-S | None | 6 | SCN1A AB093548 | Dravet syndrome (p.S843R - 18930999/18930999) |
SCN2A | 842-N | None | 6 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A876T - 17696120) |
SCN2A | 844-E | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E853K - 17054684) |
SCN2A | 848-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
SCN2A | 849-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L823R - 19800314) |
SCN2A | 850-R | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R859C - 16525050) |
SCN5A NM_198056 | Long QT syndrome (p.R808P - 19862833) | ||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) | ||||
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | ||||
SCN2A | 852-F | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
SCN2A | 853-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
SCN2A | 856-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R814Q - 17442746) Cardiomyopathy, dilated (p.R814W - 15671429) |
SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) | ||||
SCN2A | 858-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F816Y - 19716085) |
SCN2A | 860-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
SCN2A | 866-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094) |
SCN2A | 868-N | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R902W - 16754686) |
SCN2A | 870-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
SCN2A | 874-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) |
SCN9A NM_002977 | Erythermalgia, primary (p.I848T - 14985375) | ||||
SCN2A | 875-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G833R - 19862833) |
SCN2A | 877-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S835L - 15277732) |
SCN2A | 881-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L839P - 16426410) |
SCN2A | 882-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G840R - 19862833) |
SCN2A | 884-L | None | 9 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) |
SCN9A NM_002977 | Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) | ||||
SCN2A | 885-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T843A - 16244680) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) | ||||
SCN2A | 887-V | Probably Benign - (p.V887G - rs138643224) | 9 | SCN1A AB093548 | Dravet syndrome (p.V896L - 18930999) |
SCN2A | 889-A | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.A863P - 17135418) |
SCN2A | 890-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.I848F - 19716085) | ||||
SCN2A | 892-V | Other Disease Phenotype - Neonatal-infantile seizures (p.V892I - 15048894, rs121917751) | 9 | ||
SCN2A | 893-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F902C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.F851L - 11901046/20129283) | ||||
SCN2A | 898-V | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.V872G - 19162012) |
SCN2A | 899-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
SCN2A | 905-K | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
SCN2A | 908-K | Benign - (p.K908R - rs2228980) | 7 | ||
SCN2A | 909-E | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.E867Q - 20129283) |
SCN2A | 918-C | None | 4 | SCN1A AB093548 | Dravet syndrome (p.C927F - 18930999) |
SCN2A | 922-R | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R931C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.R878C - HGOL, p.R878H - 20129283) | ||||
SCN9A NM_002977 | Congenital indifference to pain (p.R896Q - 20635406) | ||||
SCN2A | 925-M | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421) |
SCN2A | 926-H | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) |
SCN2A | 930-H | None | 9 | SCN1A AB093548 | Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708) |
SCN5A NM_198056 | Brugada syndrome (p.H886P - 20129283) | ||||
CACNA1H NM_021098 | Autism spectrum disorder ? (p.W962C - 16754686) | ||||
SCN2A | 933-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L942P - 17054684) |
SCN2A | 934-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I943N - 18930999) |
SCN2A | 935-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) |
SCN2A | 936-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F945L - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.F892I - 11901046) | ||||
SCN2A | 937-R | None | 9 | SCN1A AB093548 | Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) |
SCN5A NM_198056 | Brugada syndrome (p.R893C - 20129283, p.R893H - 20129283) | ||||
SCN2A | 940-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.C896S - 11901046) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) | ||||
SCN2A | 941-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G950E - 17347258) |
SCN2A | 943-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W952G - 18554359) |
SCN2A | 945-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E901K - 20129283) |
SCN2A | 948-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W957L - 17561957) |
SCN2A | 950-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C959R - 12754708) |
SCN2A | 951-M | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M960V - 12566275) |
SCN2A | 954-A | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.S910L - 11901046) |
SCN2A | 959-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C915R - 20129283) |
SCN2A | 961-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L917R - 20129283) |
SCN2A | 962-V | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
SCN2A | 964-M | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999) |
SCN2A | 967-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) |
SCN2A | 970-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G979R - 12566275) |
SCN2A | 971-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N927S - 16764707) |
SCN2A | 972-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L928P - 20129283) |
SCN2A | 973-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V982L - 19763161) |
SCN2A | 974-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V983A - 12566275) |
SCN2A | 976-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N985I - 12566275) |
SCN2A | 977-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211) |
SCN2A | 978-F | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
SCN2A | 979-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L935P - 20129283) |
SCN2A | 980-A | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
SCN2A | 981-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L990F - 18076640) |
CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) | ||||
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | ||||
SCN2A | 983-L | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
SCN2A | 984-S | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
SCN2A | 985-S | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
SCN2A | 989-D | None | 5 | SCN1A AB093548 | Dravet syndrome (p.D998G - 18930999) |
SCN2A | 1001-N | Other Disease Phenotype - Neonatal-infantile seizures (p.N1001K - 16417554) | 4 | ||
SCN2A | 1002-N | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1011I - 12566275) |
SCN2A | 1003-L | Other Disease Phenotype - Neonatal-infantile seizures (p.L1003I - 15048894, rs121917754) | 4 | ||
SCN2A | 1004-Q | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q960K - 19716085) |
SCN2A | 1009-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R965C - 11901046, p.R965H - 16764707) Long QT syndrome (p.R965L - 19716085) |
SCN2A | 1015-D | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R971C - 15840476) |
SCN2A | 1019-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R975W - 19322600) |
SCN2A | 1022-R | None | 3 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.R996C - 17145499) |
SCN2A | 1025-I | None | 3 | SCN1A AB093548 | Autism ? (p.I1034T - 12610651) |
SCN5A NM_198056 | Long QT syndrome (p.C981F - 19716085) | ||||
SCN2A | 1026-Q | None | 3 | SCN5A NM_198056 | Sudden adult death syndrome (p.C982R - 16712702) |
SCN2A | 1029-F | None | 2 | SCN1A AB093548 | Autism ? (p.F1038L - 12610651) |
SCN2A | 1034-K | Probably Benign - (p.K1034N - rs145037778) | 1 | ||
SCN2A | 1041-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A997T - 20129283) Sudden infant death syndrome (p.A997S - 11710892) |
SCN2A | 1042-L | None | 2 | CACNA1A X99897 | Episodic ataxia 2 (p.M798T - 20129625) |
SCN2A | 1049-K | None | 2 | SCN5A NM_198056 | Cardiac conduction disease (p.P1008S - 20025708) |
SCN2A | 1056-H | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
SCN2A | 1060-E | None | 2 | SCN1A AB093548 | Dravet syndrome (p.E1068K - 18930999) |
SCN2A | 1061-I | Probably Benign - (p.I1061M - rs151204987) | 1 | ||
SCN2A | 1065-L | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.R1023H - 16344400) |
SCN2A | 1081-S | Probably Benign - (p.S1081G - rs112095600) | 1 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A1089S - 17397049) |
SCN2A | 1087-V | None | 2 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (S/T - LDGA) |
SCN2A | 1103-V | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
SCN2A | 1111-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E1053K - 11901046) |
SCN2A | 1113-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.D1055G - 20129283) |
SCN2A | 1117-L | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.E1170K - 17696120) |
SCN2A | 1127-D | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.T1069M - 15840476) |
SCN2A | 1135-L | None | 2 | SCN5A NM_198056 | Atrial fibrillation ? (p.T1131I - 18378609) |
SCN2A | 1142-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E1138A - 19862833) |
SCN2A | 1144-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.S1140T - 20129283) |
SCN2A | 1150-A | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.L1123F - 19763161) |
SCN2A | 1164-S | None | 1 | SCN1A AB093548 | Hemiplegic migraine (p.T1174S - 18021921) |
SCN2A | 1169-A | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.D1166N - 19716085) |
SCN2A | 1174-D | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.Q1264H - 17696120) |
SCN2A | 1177-R | Probably Benign - (p.R1177W - rs115231482) | 3 | ||
SCN2A | 1178-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1175C - HGOL) |
SCN2A | 1183-Q | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.A1180V - 19808398) |
SCN2A | 1184-I | Probably Benign - (p.I1184T - rs141529326) | 5 | ||
SCN2A | 1187-E | None | 4 | SCN9A NM_002977 | Dravet syndrome ? (p.E1160Q - 19763161) |
SCN2A | 1189-G | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.A1186T - 19996378) |
SCN2A | 1194-W | None | 6 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445) |
SCN2A | 1196-N | None | 8 | SCN5A NM_198056 | Sudden unexplained nocturnal death syndrome (p.R1193Q - 11823453) |
SCN2A | 1197-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1207P - 18413471) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) | ||||
SCN2A | 1198-R | None | 9 | SCN5A NM_198056 | Ventricular tachycardia (p.R1195H - 19632629) |
SCN2A | 1200-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1210K - 19350499) |
SCN2A | 1202-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1199S - 19716085) |
SCN2A | 1209-W | None | 9 | SCN5A NM_198056 | Sudden cardiac death (p.W1206C - 18071069) |
CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) | ||||
SCN2A | 1211-E | Other Disease Phenotype - Neonatal-infantile seizures (p.E1211K - 19786696) | 9 | ||
SCN2A | 1215-V | Probably Benign - (p.V1215G - rs78332743) | 9 | ||
SCN2A | 1221-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) |
SCN2A | 1222-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1219N - 20129283) |
SCN2A | 1223-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1233R - 12821740) |
SCN2A | 1228-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1238D - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.E1225K - 12106943) | ||||
SCN2A | 1229-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) |
SCN2A | 1231-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.Y1228H - 20129283) |
SCN2A | 1234-Q | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.E1231K - 15840476) |
SCN2A | 1235-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1245Q - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.R1232Q - 20129283) Ventricular fibrillation, idiopathic ? (p.R1232W - 9521325) | ||||
SCN2A | 1239-K | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) |
SCN5A NM_198056 | Brugada syndrome (p.K1236N - 11901046) Brugada syndrome ? (p.K1236R - 21126620) | ||||
SCN2A | 1240-T | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081) |
SCN2A | 1242-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1239P - 20129283) |
SCN2A | 1243-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1240Q - 11901046) |
SCN2A | 1244-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1241S - 19862833) |
SCN2A | 1245-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1255D - 18930999) |
SCN2A | 1246-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1243N - 20129283) |
SCN2A | 1250-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1260P - 20431604) |
SCN2A | 1252-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1249D - 20129283) |
SCN2A | 1253-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1263L - 12566275) |
SCN5A NM_198056 | Long QT syndrome, drug-associated (p.F1250L - 11997281) | ||||
SCN2A | 1255-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1265P - 12083760) |
SCN2A | 1256-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1253G - 20129283) |
SCN2A | 1260-K | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608) |
SCN2A | 1264-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) |
SCN2A | 1265-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1275V - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1262S - 15338453) | ||||
SCN2A | 1266-F | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
SCN2A | 1274-W | None | 9 | SCN1A AB093548 | Dravet syndrome (p.W1284S - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.W1271C - 20129283) | ||||
SCN2A | 1277-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1287P - 20431604) |
SCN2A | 1278-D | None | 9 | SCN5A NM_198056 | Atrial standstill (p.D1275N - 12522116) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) | ||||
SCN2A | 1281-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1278N - 19841300) |
SCN2A | 1282-V | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
SCN2A | 1284-V | None | 9 | SCN5A NM_198056 | Brugada syndrome ? (p.V1281F - 21126620) |
SCN2A | 1286-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1283M - 19716085) |
SCN2A | 1291-A | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.A1288G - 20129283) |
SCN2A | 1294-L | None | 7 | SCN9A NM_002977 | Dravet syndrome ? (p.L1267V - 19763161) |
SCN2A | 1295-G | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
SCN2A | 1296-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.F1293S - 11901046) |
SCN2A | 1298-E | None | 8 | SCN1A AB093548 | Febrile seizures (p.E1308D - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.E1295K - 11304498) | ||||
SCN2A | 1299-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752) |
SCN2A | 1301-A | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.P1298L - 14523039) |
SCN2A | 1306-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R1316S - 18930999) |
SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) | ||||
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | ||||
SCN2A | 1307-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1304M - 10508990) |
SCN2A | 1309-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) | ||||
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | ||||
SCN2A | 1311-L | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.L1308F - 18599870) |
SCN2A | 1312-R | Other Disease Phenotype - Neonatal-infantile seizures (p.R1312T - 19783390) | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) |
SCN2A | 1314-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1311P - 20129283) |
SCN2A | 1316-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318) |
SCN2A | 1318-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S1328P - 18930999) |
SCN2A | 1319-R | Other Disease Phenotype - Neonatal-infantile seizures (p.R1319Q - 15048894, rs121917753) | 9 | ||
SCN2A | 1322-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1319V - 12106943) |
SCN2A | 1325-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1335M - 18413471) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) | ||||
SCN2A | 1326-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1323G - 20129283) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1299F - 17145499) | ||||
SCN2A | 1327-V | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
SCN2A | 1328-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1325S - 8541846) |
SCN2A | 1329-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1326S - 19716085) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) | ||||
SCN2A | 1330-L | Other Disease Phenotype - Neonatal-infantile seizures (p.L1330F - 12243921, rs121917749) | 9 | ||
SCN2A | 1332-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G1329S - 21216356) |
SCN2A | 1333-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1330P - 11535573, p.A1330T - 12566525) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) | ||||
SCN2A | 1335-P | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.P1332L - 14676229) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) | ||||
SCN9A NM_002977 | Erythermalgia, primary (p.P1308L - 20429905) | ||||
SCN2A | 1336-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1333Y - 16922724) |
SCN2A | 1337-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1334V - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) | ||||
SCN2A | 1341-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1338V - 19716085) |
SCN2A | 1343-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444) |
SCN5A NM_198056 | Brugada syndrome (p.V1340I - 20129283) | ||||
SCN2A | 1344-C | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
SCN2A | 1345-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1355P - 14738421) |
SCN2A | 1347-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1344L - 20129283, p.F1344S - 16616735) |
SCN2A | 1348-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1358S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.W1345C - 20339501) | ||||
SCN2A | 1349-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1346I - 20129283, p.L1346P - 20129283) |
SCN2A | 1353-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1350T - 12845244) |
SCN2A | 1354-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M1351R - 20129283) |
SCN2A | 1355-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
SCN2A | 1356-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202) |
SCN5A NM_198056 | Brugada syndrome (p.V1353M - 20129283) | ||||
SCN2A | 1357-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N1367K - 18930999) |
SCN2A | 1361-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1358W - 20129283) |
SCN2A | 1362-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1359N - 20129283) |
SCN2A | 1363-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1360C - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) | ||||
SCN2A | 1366-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1363Y - 16764707) |
SCN2A | 1370-T | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.D1463N - 12891677) |
SCN2A | 1380-V | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1390M - 12083760) |
SCN2A | 1381-N | None | 5 | SCN1A AB093548 | Dravet syndrome (p.N1391S - 18930999) |
SCN2A | 1382-N | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.N1380K - HGOL) |
SCN2A | 1383-Y | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.H1393P - 17129991) |
SCN2A | 1384-S | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.S1382I - 12106943) |
SCN2A | 1385-E | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1395Y - 21114141) |
SCN2A | 1386-C | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1396G - 17347258) |
SCN2A | 1394-Q | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1404A - 17129991) |
SCN2A | 1396-A | None | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
SCN2A | 1404-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1414Y - 17561957) |
SCN2A | 1405-F | Probably Benign - (p.F1405S - rs74881030) | 9 | ||
SCN2A | 1406-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1416G - 18930999) |
SCN2A | 1408-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1405L - 12106943, p.V1405M - 20129283) |
SCN2A | 1409-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1406R - 12106943, p.G1406E - 20129283) |
SCN2A | 1411-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1408R - 11748104) |
SCN2A | 1412-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1422C - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.Y1409C - 20129283) | ||||
SCN2A | 1415-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1412F - 20129283) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) | ||||
SCN2A | 1416-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1426R - 17054684) |
SCN2A | 1418-V | None | 9 | SCN1A AB093548 | Febrile seizures (p.V1428A - 11524484) |
CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) | ||||
SCN2A | 1421-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.F1431I - 18930999) |
SCN2A | 1422-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1419E - 20129283) |
CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.E1115K - 20817017) | ||||
SCN2A | 1423-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.G1420R - 20129283) Brugada syndrome ? (p.G1420V - 21126620) | ||||
SCN2A | 1424-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1434R - 12083760) |
SCN2A | 1427-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1437M - 18930999) |
SCN2A | 1430-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1427S - 20129283) |
SCN2A | 1431-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1441P - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A1428V - 20129283) | ||||
SCN2A | 1435-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1432G - 10727653) Long QT syndrome (p.R1432S - 19716085) |
SCN2A | 1436-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1433V - 20129283) |
SCN2A | 1440-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760) |
SCN2A | 1441-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1451L - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.P1438L - 18156160) | ||||
SCN2A | 1444-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1441Q - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) | ||||
SCN2A | 1451-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1461I - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I1448L - 20129283, p.I1448T - 20129283) | ||||
SCN2A | 1452-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1462C - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.Y1449C - 20129283) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) | ||||
SCN2A | 1453-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1463S - 12821740) |
SCN2A | 1454-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1451D - 20129283) |
SCN2A | 1455-I | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
SCN2A | 1460-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1470W - 17561957) |
SCN2A | 1461-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1458Y - 15840476) |
SCN2A | 1465-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1475S - 17054684) |
SCN2A | 1466-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1463Y - 20129283) |
SCN2A | 1468-F | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
SCN2A | 1470-G | None | 9 | SCN1A AB093548 | Myoclonic-astatic epilepsy (p.G1480V - 17347258) |
SCN2A | 1471-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1468F - 20129283) |
SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) | ||||
SCN2A | 1473-I | Other Disease Phenotype - Neonatal-infantile seizures (p.I1473M - 19786696) | 9 | ||
SCN2A | 1474-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1484G - 18930999) |
SCN2A | 1475-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1472S - 19716085) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) | ||||
SCN2A | 1476-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1473C - 18060054, p.F1473S - 20339117) |
SCN9A NM_002977 | Erythermalgia, primary (p.F1449V - 15958509) | ||||
SCN2A | 1479-Q | None | 7 | SCN1A AB093548 | Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696) |
SCN2A | 1481-K | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
SCN2A | 1484-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G1481E - 15840476) |
SCN4A NM_000334 | Myotonia (p.G1306A - 8308722, p.G1306E - 8308722) Paramyotonia congenita (p.G1306V - 1310898) | ||||
SCN2A | 1488-I | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.I1461T - 17145499) |
SCN2A | 1489-F | None | 6 | SCN1A AB093548 | Hemiplegic migraine 2 (p.F1499L - 19332696) |
SCN5A NM_198056 | Sudden adult death syndrome (p.F1486L - 17210839) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.F1462V - 17145499) | ||||
SCN2A | 1490-M | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.M1487L - 19716085) |
SCN2A | 1491-T | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1488R - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.T1464I - 17145499) | ||||
SCN2A | 1492-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1489D - 19716085) |
SCN2A | 1493-E | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1503K - 19783390) |
SCN2A | 1496-K | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.K1493R - 19167345) |
SCN2A | 1497-Y | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.Y1494N - 18341814) |
SCN2A | 1498-Y | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.Y1495S - 19716085) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1086C - 10590402) Malignant hyperthermia (p.R1086H - 9199552, p.R1086S - 20431982) | ||||
SCN2A | 1500-A | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
SCN2A | 1501-M | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.M1498T - 16414944, p.M1498V - 19716085) |
SCN2A | 1504-L | None | 2 | SCN1A AB093548 | Dravet syndrome (p.L1514S - 20522430) |
SCN5A NM_198056 | Long QT syndrome (p.L1501V - 10973849) | ||||
SCN2A | 1505-G | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.G1502S - 12106943) |
SCN2A | 1508-K | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.K1505N - 19716085) |
SCN2A | 1515-R | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.R1512W - 10690282) |
SCN2A | 1522-G | Probably Benign - (p.G1522A - rs147522594) | 9 | ||
SCN2A | 1524-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1521K - 20129283) |
SCN2A | 1528-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1538I - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.V1525M - 20129283) | ||||
SCN2A | 1529-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1539P - 18076640) |
SCN2A | 1533-F | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.F1543S - 17347258) |
SCN2A | 1534-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1544A - 18930999) |
SCN2A | 1535-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1545V - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.V1532I - 19716085) | ||||
SCN2A | 1538-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
SCN2A | 1541-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
SCN2A | 1548-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
SCN2A | 1551-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E1561K - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.E1548K - 20129283) | ||||
SCN2A | 1556-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1553R - 21321465) |
SCN2A | 1563-L | Other Disease Phenotype - Neonatal-infantile seizures (p.L1563V - 12243921, rs121917750) | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1560F - 19716085) |
SCN2A | 1565-W | None | 9 | SCN1A AB093548 | Rasmussen encephalitis (p.R1575C - 18031552) |
SCN9A NM_002977 | Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) | ||||
SCN2A | 1569-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1579E - 18930999) |
SCN2A | 1571-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
SCN2A | 1574-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1571C - 20129283) |
SCN2A | 1576-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1586E - 18930999) |
SCN2A | 1577-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1574K - 19808440) |
SCN2A | 1578-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1588R - 17561957) |
SCN2A | 1585-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1582P - 19843921) |
SCN2A | 1586-R | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.R1583C - 20129283, p.R1583H - 20129283) | ||||
SCN2A | 1596-I | Other Disease Phenotype - Neonatal-infantile seizures ? (p.I1596S - 17386050) | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1593M - 19716085) |
SCN2A | 1597-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1594S - 19716085) |
SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) | ||||
SCN2A | 1598-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1608Y - 17561957) |
SCN5A NM_198056 | Atrioventricular conduction block (p.D1595N - 11804990) Cardiomyopathy, dilated (p.D1595H - 15671429) | ||||
SCN2A | 1599-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1596I - 19716085) |
SCN2A | 1600-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1597M - 19862833) |
SCN2A | 1601-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1611F - 12566275) |
SCN2A | 1602-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1612I - 18930999) |
SCN2A | 1605-S | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
SCN2A | 1606-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) |
SCN2A | 1607-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1604M - 20129283) |
SCN2A | 1611-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
SCN2A | 1612-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1609W - 16922724) |
SCN2A | 1614-L | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
SCN2A | 1616-E | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.Q1613L - 20129283) |
SCN2A | 1620-V | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1630M - 17561957) |
SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) | ||||
SCN2A | 1622-P | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1632S - 12566275) |
SCN2A | 1623-T | None | 7 | SCN5A NM_198056 | Cardiac conduction disease (p.T1620K - 18065446) Ventricular fibrillation, idiopathic (p.T1620M - 9521325) |
SCN2A | 1626-R | None | 6 | SCN1A AB093548 | Lennox-Gastaut syndrome (p.R1636Q - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.R1623Q - 9506831, p.R1623L - 10973849) | ||||
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | ||||
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | ||||
SCN2A | 1627-V | None | 6 | SCN1A AB093548 | Hepatic coma (p.V1637E - 20392657) |
SCN2A | 1629-R | None | 6 | SCN1A AB093548 | Dravet syndrome (p.R1639G - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.R1626H - 18752142, p.R1626P - 10961955) | ||||
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) | ||||
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | ||||
SCN2A | 1632-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.R1629Q - 20129283, p.R1629G - 19843921) |
SCN2A | 1634-G | None | 7 | SCN5A NM_198056 | Long QT syndrome, malignant perinatal variant (p.G1631D - 19808432) |
SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.G1607R - 21079636) | ||||
SCN2A | 1635-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1645Q - 17347258) |
SCN5A NM_198056 | Nodal rhythm (p.R1632H - 14523039) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) | ||||
SCN2A | 1636-I | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
SCN2A | 1638-R | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760) |
CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) | ||||
SCN2A | 1639-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine (p.L1649Q - 17397047) |
SCN2A | 1645-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1642E - 20129283) |
SCN2A | 1646-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444) |
SCN2A | 1647-R | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992) |
SCN5A NM_198056 | Brugada syndrome (p.R1644C - 16344400) Long QT syndrome (p.R1644H - 8541846) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) | ||||
SCN2A | 1648-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957) |
SCN5A NM_198056 | Long QT syndrome (p.T1645M - 10508990) | ||||
SCN2A | 1651-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1661S - 12754708) |
SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) | ||||
SCN2A | 1652-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1649V - 17081365) |
SCN2A | 1653-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1650F - 19716085) |
SCN2A | 1654-M | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1664K - 18930999) |
SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.M1627K - 17145499) | ||||
SCN2A | 1655-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1652R - 17698727, p.M1652T - 19716085) |
SCN2A | 1658-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1668A - 12821740) |
SCN2A | 1659-A | None | 9 | SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) | ||||
SCN2A | 1663-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1660V - 16414944) |
CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) | ||||
SCN2A | 1664-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1674R - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.G1661R - 20129283/20129283) | ||||
SCN2A | 1665-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1675R - 18930999) |
SCN2A | 1667-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1677F - 18930999) |
SCN2A | 1670-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1667I - 11274952) |
SCN2A | 1673-I | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
SCN2A | 1675-A | None | 9 | SCN1A AB093548 | Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275) |
SCN5A NM_198056 | Brugada syndrome (p.S1672Y - 20129283) | ||||
SCN2A | 1677-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1687S - 17561957) |
CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) | ||||
SCN2A | 1682-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1692S - 14738421) |
SCN2A | 1683-A | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.A1680T - 16712702) |
SCN2A | 1684-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1694C - 14738421) |
SCN2A | 1688-E | None | 6 | CACNA1A X99897 | Hemiplgic migraine ? (p.D1726N - 20837964) |
SCN2A | 1694-M | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
SCN2A | 1697-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1707V - 17347258) |
SCN2A | 1699-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1709I - 12566275) |
SCN2A | 1701-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1698T - 20129283) |
SCN2A | 1703-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1713N - 16122630) |
SCN2A | 1704-M | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684) |
SCN2A | 1706-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1716R - 17561957) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) | ||||
SCN2A | 1708-F | None | 9 | SCN5A NM_198056 | Sudden infant death syndrome (p.F1705S - 18596570) |
SCN2A | 1709-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q1706H - 21321465) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) | ||||
SCN2A | 1711-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1721R - 17347258) |
SCN2A | 1712-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T1709R - 20129283, p.T1709M - 17697823) |
SCN2A | 1713-S | None | 9 | SCN5A NM_198056 | Ventricular fibrillation, idiopathic (p.S1710L - 10940383) |
SCN2A | 1714-A | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
SCN2A | 1715-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1725C - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1712S - 20129283) | ||||
SCN2A | 1716-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1726R - 17347258) |
SCN2A | 1717-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1714G - 16266370) |
SCN2A | 1725-N | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.N1722D - 20031634) |
SCN2A | 1726-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1723N - 19716085) |
SCN2A | 1728-P | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P1725L - 19862833) |
SCN2A | 1731-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1728R - 20129283, p.C1728W - 20129283) |
SCN2A | 1732-D | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566) |
SCN2A | 1739-G | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1749E - 12754708) |
SCN2A | 1743-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1739W - 19716085) |
SCN2A | 1744-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G1740R - 11901046) |
SCN2A | 1746-C | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1756G - 19563458) |
SCN9A NM_002977 | Congenital indifference to pain (p.C1719R - 20692858) | ||||
SCN2A | 1747-G | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G1743E - 12106943) Brugada syndrome ? (p.G1743R - 12639704) |
SCN2A | 1748-N | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
SCN2A | 1750-S | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.A1746T - 20541041) |
SCN2A | 1751-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1747M - 20541041) |
SCN2A | 1752-G | None | 9 | SCN1A AB093548 | Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684) |
SCN2A | 1755-F | None | 9 | SCN1A AB093548 | Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) |
SCN2A | 1759-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) |
SCN2A | 1761-I | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) |
SCN2A | 1763-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1773F - 17054684) |
SCN2A | 1765-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1761H - 19716085, p.L1761F - 19716085) |
SCN2A | 1767-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1763M - 15485686) |
SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) | ||||
SCN2A | 1768-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1764F - 19808440) |
SCN2A | 1770-M | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M1780T - 12821740) |
SCN5A NM_198056 | Long QT syndrome (p.M1766L - 12123767) | ||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | ||||
SCN2A | 1771-Y | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421) |
SCN5A NM_198056 | Long QT syndrome (p.Y1767C - 16414944) | ||||
SCN2A | 1772-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.I1768V - 12566525) | ||||
SCN2A | 1773-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) |
SCN2A | 1775-I | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
SCN2A | 1776-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1772V - 19996378) |
SCN2A | 1777-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1787K - 17561957) |
SCN2A | 1778-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1774S - 16038262) Long QT syndrome (p.N1774D - 19996378) |
SCN2A | 1781-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1777M - 11463728) |
SCN2A | 1783-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1779M - 15840476) |
SCN2A | 1785-E | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615) |
SCN2A | 1788-E | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.E1784K - 10377081) |
SCN2A | 1790-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1786Q - 16712702) |
SCN2A | 1791-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.S1787N - 10973849) |
SCN2A | 1793-D | None | 8 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.A1874V - 16754686) |
SCN2A | 1794-D | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.D1790G - 9686753) |
SCN2A | 1798-F | None | 8 | SCN1A AB093548 | Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275) |
SCN2A | 1799-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.Y1795H - 11410597) Long QT syndrome (p.Y1795C - 11410597) |
SCN2A | 1802-W | None | 8 | SCN1A AB093548 | Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275) |
SCN2A | 1811-Q | Probably Benign - (p.Q1811H - rs143238782) | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
SCN2A | 1816-A | Probably Benign - (p.A1816S - rs147084515) | 8 | ||
SCN2A | 1821-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1831S - 12566275) |
SCN2A | 1822-A | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1486P - 19578023) |
SCN2A | 1823-D | Probably Benign - (p.D1823A - rs138497939) | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1819N - 16922724) |
SCN2A | 1825-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1835F - 18930999) |
SCN2A | 1828-P | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.P1824A - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) | ||||
SCN2A | 1829-L | None | 8 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L1825P - 12208804) |
SCN2A | 1830-L | None | 7 | SCN5A NM_198056 | Atrial fibrillation ? (p.R1826C - 18378609) Sudden infant death syndrome (p.R1826H - 11710892) |
SCN2A | 1834-P | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1500R - 12111638) |
SCN2A | 1836-K | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.Q1832E - HGOL) |
SCN2A | 1839-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1508P - 12111638) |
SCN2A | 1842-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1852T - 12919402) |
SCN2A | 1843-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1839G - 19716085) |
SCN2A | 1846-M | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640) |
SCN2A | 1847-V | None | 6 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.V1857L - 15715999) |
SCN2A | 1854-C | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.C1850S - 18252757) |
SCN2A | 1856-D | None | 7 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1866Y - 15525788) |
SCN2A | 1857-I | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1867T - 18251839) |
SCN2A | 1865-V | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.V1861I - 20129283) |
SCN2A | 1871-E | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1881D - 14504318) |
SCN2A | 1876-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K1872N - 20129283) |
SCN2A | 1879-M | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.M1875T - 18929244) |
SCN2A | 1880-E | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
SCN2A | 1883-F | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
SCN2A | 1884-M | Probably Benign - (p.M1884T - rs111885055) | 4 | ||
SCN2A | 1899-T | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1909I - 12083760) |
SCN2A | 1900-L | Probably Benign - (p.L1900S - rs75573978) | 4 | ||
SCN2A | 1901-K | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R1897W - 19716085) |
SCN2A | 1902-R | Other Disease Phenotype - Autism ? (p.R1902C - 12610651) | 4 | ||
SCN2A | 1905-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1901Q - 19716085) |
SCN2A | 1908-S | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.S1904L - 18708744) |
SCN2A | 1910-I | Probably Benign - (p.I1910L - rs52803844) | 7 | ||
SCN2A | 1912-I | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1922T - 17347258) |
SCN2A | 1913-Q | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.Q1909R - 15840476) |
SCN2A | 1917-R | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) |
SCN5A NM_198056 | Long QT syndrome (p.R1913H - 16414944) | ||||
SCN2A | 1918-R | Probably Benign - (p.R1918C - rs139899756) | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1928G - 18413471) |
SCN2A | 1925-V | Probably Benign - (p.V1925I - rs145727224) | 3 | ||
SCN2A | 1928-V | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A1924T - 10690282) |
SCN2A | 1936-K | Probably Benign - (p.K1936R - rs113329821) | 2 | ||
SCN2A | 1939-E | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G1935S - 16267250) |
SCN2A | 1940-C | None | 0 | SCN5A NM_198056 | Brugada syndrome (p.E1938K - 20129283) |
SCN2A | 1945-I | None | 1 | SCN1A AB093548 | Autism ? (p.I1955T - 12610651) |
SCN2A | 1947-E | None | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1957G - 14504318) |
SCN2A | 1951-I | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.A1949S - 15840476) |
SCN2A | 1953-K | None | 2 | SCN5A NM_198056 | Atrial fibrillation (p.V1951M - 18378609) Brugada syndrome (p.V1951L - 11901046) |
SCN2A | 1962-K | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.S1964F - 21126620) |
SCN2A | 1966-T | Probably Benign - (p.T1966M - rs112098080) | 1 | SCN5A NM_198056 | Brugada syndrome (p.I1968S - 16344400) |
SCN2A | 1975-Y | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.Y1977N - 19716085) |
SCN2A | 1985-K | None | 1 | SCN5A NM_198056 | Atrial fibrillation (p.N1987K - 18088563) |
SCN2A | 1989-D | None | 1 | CACNA1A X99897 | Episodic ataxia 2 ? (p.R2091Q - 20663518) |
SCN2A | 1997-G | None | 3 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.D2130N - 20817017) |
SCN2A | 2001-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R2012C - 19716085) |
SCN3A (paralogue of LQTS gene SCN5A) | View alignment | ||||
Gene | Residue | Known Variants in SCN3A | Consensus | Paralogue | Disease-causing Variants in Paralogues |
SCN3A | 1-M | None | 5 | SCN1A AB093548 | Dravet syndrome (p.M1L - 18930999) |
SCN3A | 2-A | Probably Benign - (p.A2V - rs144613665) | 4 | SCN5A NM_198056 | Brugada syndrome (p.M1I - 20129283) |
SCN3A | 3-Q | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.A2T - 20609320) |
SCN3A | 10-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G9V - 16922724) |
SCN3A | 12-E | None | 2 | SCN9A NM_002977 | Erythermalgia, primary (p.Q10R - 19369487) |
SCN3A | 15-R | Probably Benign - (p.R15H - rs139769668) | 3 | ||
SCN3A | 19-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R18Q - 19716085, p.R18W - 15840476) |
SCN3A | 23-A | Probably Benign - (p.A23V - rs139585434) | 3 | ||
SCN3A | 26-E | Probably Benign - (p.E26K - rs141705204) | 3 | ||
SCN3A | 27-K | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R27T - 20729507) |
SCN3A | 28-R | None | 2 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) |
SCN5A NM_198056 | Brugada syndrome (p.R27H - 11901046) | ||||
SCN3A | 31-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E30G - 19716085) |
SCN3A | 36-K | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G35S - 11960580) |
SCN3A | 40-E | None | 2 | SCN5A NM_198056 | Arrhythmia, lidocaine-induced (p.R43Q - 18848812) |
SCN3A | 42-D | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.A39V - 17224476) |
SCN3A | 45-D | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.E48K - 19716085) |
SCN3A | 49-P | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.P52S - 19716085) |
SCN3A | 50-K | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.R53Q - 19716085) |
SCN3A | 58-G | None | 3 | SCN1A AB093548 | Dravet syndrome (p.G58V - 18930999) |
SCN3A | 61-L | None | 3 | SCN1A AB093548 | Dravet syndrome (p.L61F - 18930999) |
SCN3A | 63-F | None | 2 | SCN1A AB093548 | Dravet syndrome (p.F63L - 20729507) |
SCN3A | 64-I | None | 3 | SCN9A NM_002977 | Febrile seizures (p.I62V - 19763161) |
SCN3A | 67-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.N70K - 20129283) |
SCN3A | 74-S | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S74P - 17561957) |
SCN3A | 78-E | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E78D - 12821740) |
SCN3A | 79-D | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D79H - 17347258) |
SCN3A | 81-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D84N - 20129283) |
SCN3A | 84-Y | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y84C - 17347258) |
SCN3A | 90-F | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F90S - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.F93S - 20129283) | ||||
SCN3A | 91-I | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I91T - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.I94S - 20129283) | ||||
SCN3A | 92-V | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V95I - 17081365) |
SCN3A | 101-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.R104Q - 11960580, p.R104W - 20129283) Long QT syndrome (p.R104G - 19716085) | ||||
SCN3A | 103-S | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S103G - 12566275) |
SCN3A | 106-S | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.N109K - 19843921) |
SCN3A | 110-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V113I - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) | ||||
SCN3A | 112-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T112I - 12566275) |
SCN5A NM_198056 | Long QT syndrome (p.S115G - 19716085) | ||||
SCN3A | 118-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R118S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R121Q - 20129283, p.R121W - 19606473) | ||||
SCN3A | 122-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V125L - 15840476) |
SCN3A | 123-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K126E - 12051963) |
SCN3A | 124-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I124N - 18930999) |
SCN3A | 133-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L136P - 17697823) |
SCN3A | 135-M | None | 9 | SCN5A NM_198056 | Atrial fibrillation (p.M138I - 18378609) |
SCN3A | 138-I | None | 9 | SCN4A NM_000334 | Myotonia (p.I141V - 19015483) |
SCN9A NM_002977 | Erythermalgia, primary (p.I136V - 17294067) | ||||
SCN3A | 143-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V146M - 20129283) |
SCN3A | 145-M | None | 9 | SCN1A AB093548 | Febrile seizures (p.M145T - 16326807) |
SCN3A | 151-P | None | 5 | SCN9A NM_002977 | Febrile seizures (p.P149Q - 19763161) |
SCN3A | 158-E | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.E161Q - 20129283, p.E161K - 12106943) |
SCN3A | 162-T | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T162P - 17054684) |
SCN3A | 163-G | None | 7 | SCN1A AB093548 | Dravet syndrome (p.G163E - 18076640) |
SCN3A | 168-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
SCN3A | 171-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258) |
SCN3A | 172-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K175N - 20129283) |
SCN3A | 173-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I176M - 19996378) |
SCN3A | 175-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A178G - 20129283) | ||||
SCN3A | 177-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) | ||||
SCN3A | 179-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C182R - 20129283) |
SCN3A | 180-L | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.F161L - 12891677) |
SCN3A | 182-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A185V - 20129283) Long QT syndrome (p.A185T - 15176425) |
SCN3A | 184-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T187I - 16325048) |
SCN3A | 187-R | None | 9 | SCN2A NM_021007 | Febrile and afebrile seizures (p.R188W - 11371648) |
SCN5A NM_198056 | Long QT syndrome (p.R190Q - 17905336, p.R190G - 15176425) | ||||
SCN3A | 188-D | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D188V - 11254444) |
SCN3A | 190-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W190R - 14738421) |
SCN3A | 191-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) |
SCN3A | 194-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684) |
SCN3A | 199-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T199R - 17347258) |
SCN3A | 201-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A204V - 20129283) |
SCN3A | 209-L | None | 6 | SCN5A NM_198056 | Atrial standstill ? (p.L212P - 16188595) Brugada syndrome (p.L212Q - 20129283) |
SCN3A | 212-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V212A - 18076640) |
SCN3A | 213-S | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.S216L - 19412328) |
SCN9A NM_002977 | Erythermalgia, primary (p.S211P - 20123784) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) | ||||
SCN3A | 216-R | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
SCN3A | 217-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T217K - 17054684) |
SCN5A NM_198056 | Nodal rhythm (p.T220I - 14523039) | ||||
SCN3A | 218-F | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) |
SCN9A NM_002977 | Erythermalgia, primary (p.F216S - 15955112) | ||||
SCN3A | 219-R | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.R222Q - 19412328) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) | ||||
SCN3A | 220-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V223L - 20129283) |
SCN3A | 222-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R223Q - 15048894) |
SCN5A NM_198056 | Cardiac conduction disease (p.R225W - 12574143) Long QT syndrome (p.R225Q - 16922724) | ||||
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | ||||
SCN3A | 223-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A223E - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.A226V - 11901046) | ||||
SCN3A | 225-K | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
SCN3A | 226-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T226M - 17347258) |
SCN3A | 227-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I227S - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I230V - 11901046) Cardiac conduction disease (p.I230T - 20564468) | ||||
SCN3A | 229-V | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.V232I - 18599870) |
CACNA1H NM_021098 | Autism spectrum disorder ? (p.R212R - 16754686) | ||||
SCN3A | 230-I | None | 9 | SCN9A NM_002977 | Dravet syndrome ? (p.I228M - 19763161) |
SCN3A | 232-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G232S - 18930999) |
SCN3A | 236-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I239V - 15176425) |
SCN9A NM_002977 | Erythermalgia, primary (p.I234T - 20385509) | ||||
SCN3A | 237-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V240M - 19716085) |
SCN3A | 239-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | ||||
SCN3A | 240-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) |
SCN3A | 242-Q | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q245K - 15840476) |
SCN3A | 243-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S243Y - 18930999) |
SCN9A NM_002977 | Erythermalgia, primary (p.S241T - 16216943) | ||||
SCN3A | 244-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V247L - 19716085) |
SCN3A | 247-L | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
SCN3A | 251-M | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.M252V - 20371507) |
SCN3A | 252-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I252N - 15087100) |
SCN3A | 259-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S259R - 20431604) |
SCN3A | 260-V | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V261M - 20371507) |
SCN3A | 262-A | None | 9 | SCN2A NM_021007 | Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) |
SCN3A | 263-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine and epilepsy (p.L263V - 19220312) |
SCN3A | 265-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G265W - 12566275) |
SCN3A | 267-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q270K - 20129283) |
SCN3A | 269-F | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
SCN3A | 271-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
SCN3A | 272-N | None | 9 | SCN5A NM_198056 | Long QT syndrome & atrial fibrillation (p.N275K - 18452873) |
SCN3A | 273-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L276Q - 17697823) |
SCN3A | 274-R | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
SCN3A | 275-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.H278D - 20129283) |
SCN3A | 277-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) |
CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) | ||||
SCN3A | 279-Q | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R282C - 20129283, p.R282H - 11901046) |
SCN3A | 280-W | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) |
SCN3A | 281-P | None | 5 | SCN1A AB093548 | Dravet syndrome (p.P281L - 18930999, p.P281S - 18930999) |
SCN3A | 284-D | Probably Benign - (p.D284N - rs142323631) | 2 | ||
SCN3A | 292-T | Probably Benign - (p.T292A - rs112482609) | 2 | ||
SCN3A | 298-T | None | 2 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T297I - 12821740) |
SCN3A | 303-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G289S - 19716085) |
SCN3A | 306-V | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G292S - 15277732) |
SCN3A | 308-V | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V294M - 11901046) |
SCN3A | 312-T | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.G298S - 11804990) |
SCN3A | 319-I | None | 3 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P314S - 17156077) |
SCN3A | 321-D | None | 3 | SCN2A NM_021007 | Neonatal-infantile seizures (p.D322N - 19783390) |
SCN3A | 323-S | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R322I - 17561957) |
SCN3A | 326-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.L315P - 20129283) |
SCN3A | 327-V | None | 6 | SCN2A NM_021007 | Neonatal-infantile seizures (p.F328V - 19783390) |
SCN3A | 328-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K317N - 14625171) |
SCN3A | 330-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G319S - 11901046) |
SCN3A | 331-Q | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.T320N - 20129283) |
SCN3A | 336-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.L325R - 15890323) |
SCN3A | 341-S | None | 4 | SCN1A AB093548 | Dravet syndrome (p.S340F - 18930999) |
SCN3A | 344-G | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G343D - 12566275) |
SCN3A | 346-C | None | 5 | SCN1A AB093548 | Dravet syndrome (p.C345R - 18930999) |
SCN3A | 347-P | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.P336L - 17075016) |
SCN3A | 351-I | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.R340Q - 15176425, p.R340W - 19716085) |
SCN3A | 352-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
SCN3A | 354-K | Epilepsy - Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) | 8 | ||
SCN3A | 356-G | None | 8 | SCN1A AB093548 | Dravet syndrome (p.G355D - 18930999) |
SCN3A | 357-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R356G - 17561957) |
SCN3A | 358-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N357I - 18930999) |
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) | ||||
SCN3A | 359-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P358T - 17561957) |
SCN3A | 362-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G351D - 20129283, p.G351V - 12051963) |
SCN3A | 364-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T353I - 17198989) |
SCN3A | 367-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D366E - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.D356N - 16325048) | ||||
SCN3A | 375-S | Probably Benign - (p.S375C - rs148689026) | 9 | ||
SCN3A | 378-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R367C - 12106943, p.R367L - 20129283) Sudden unexplained nocturnal death syndrome (p.R367H - 11823453) | ||||
SCN3A | 379-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L378Q - 18930999) |
SCN3A | 380-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M369K - 12106943) |
SCN3A | 381-T | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.T370M - 16712702) |
SCN3A | 384-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F383L - 17054684) |
SCN3A | 385-W | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W374G - 20129283) |
SCN3A | 387-N | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R376H - 15851228) |
SCN3A | 389-Y | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195) |
SCN3A | 394-R | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) |
SCN3A | 396-A | None | 8 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.A395P - 17347258) |
SCN3A | 397-G | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.G386R - 20129283, p.G386E - 20129283) |
SCN3A | 404-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F403L - 17347258) |
SCN3A | 407-V | Probably Benign - (p.V407I - rs149918908) | 9 | SCN1A AB093548 | Dravet syndrome (p.V406F - 19589774) |
SCN5A NM_198056 | Brugada syndrome (p.V396A - 20129283, p.V396L - 20129283) | ||||
SCN3A | 408-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I397T - 19716085) |
SCN3A | 411-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation during acute myocardial infarction (p.G400A - 17675083) |
CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) | ||||
SCN3A | 413-F | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) |
SCN3A | 414-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y413N - 17347258) |
SCN3A | 415-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L404Q - 15840476) |
SCN3A | 417-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N406S - 15877619) Long QT syndrome (p.N406K - 19716085/15840476) |
SCN9A NM_002977 | Erythermalgia, primary (p.N395K - 15955112/17263810) | ||||
SCN3A | 420-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L409V - 19716085) |
SCN3A | 421-A | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G402S - 15863612) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) | ||||
SCN3A | 422-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V411M - 10961955) |
SCN4A NM_000334 | Myotonia (p.V445M - 9392583) | ||||
SCN9A NM_002977 | Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) | ||||
SCN3A | 423-V | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.V422E - 17347258) |
SCN3A | 424-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A413E - 16414944, p.A413T - 16414944) |
SCN3A | 425-M | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G406R - 15454078) |
SCN3A | 427-Y | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740) |
CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) | ||||
SCN3A | 429-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.E430Q - 17386050) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) | ||||
SCN3A | 439-E | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.E428K - 18378609) |
SCN3A | 450-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E439K - 20129283) |
SCN3A | 452-L | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
SCN3A | 456-Q | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.H445D - 18378609) |
SCN3A | 463-A | Probably Benign - (p.A463V - rs112943141) | 3 | ||
SCN3A | 479-G | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A480T - 15048902) |
SCN3A | 480-E | None | 2 | CACNA1A X99897 | Spinocerebellar ataxia 6 (p.A405T - 20682717) |
SCN3A | 483-E | Probably Benign - (p.E483A - rs142029708) | 3 | ||
SCN3A | 486-S | None | 4 | SCN5A NM_198056 | Sudden adult death syndrome ? (p.L461V - 16712702) |
SCN3A | 487-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E462A - 19716085, p.E462K - 15840476) |
SCN3A | 495-S | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.N470K - 18378609) |
SCN3A | 508-Q | Probably Benign - (p.Q508R - rs143763998) | 3 | ||
SCN3A | 512-L | Probably Benign - (p.L512V - rs145500931) | 3 | ||
SCN3A | 513-E | None | 2 | SCN9A NM_002977 | Febrile seizures ? (p.S490N - 19763161) |
SCN3A | 514-G | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P492S - 17156077) |
SCN3A | 521-D | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G499S - 12891677) |
SCN3A | 528-S | None | 2 | SCN1A AB093548 | Dravet syndrome (p.S525F - 18930999) |
SCN3A | 530-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D501G - 20129283) |
SCN3A | 534-R | Probably Benign - (p.R534S - rs141748745) | 2 | ||
SCN3A | 538-L | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.H515Y - 15833171) |
SCN3A | 540-S | Probably Benign - (p.S540F - rs147678484) | 2 | ||
SCN3A | 542-D | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.E519K - 19763161) |
SCN3A | 545-R | None | 1 | SCN1A AB093548 | Autism ? (p.R542Q - 12610651) |
SCN3A | 560-L | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.T512I - 12569159) |
SCN3A | 562-I | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.G514C - 11234013) |
SCN3A | 571-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R523C - 18752142) |
SCN3A | 574-K | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R526H - 20129283) |
SCN3A | 575-T | None | 2 | SCN2A NM_021007 | Neonatal-infantile seizures (p.A575V - 19786696) |
SCN3A | 578-F | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.F530V - 19716085) |
SCN3A | 580-F | None | 2 | SCN5A NM_198056 | Sudden infant death syndrome (p.F532C - 18596570) |
SCN3A | 585-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R535Q - 19716085) |
SCN3A | 593-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.F543L - 20129283) |
SCN3A | 601-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A551T - 16155735) |
SCN3A | 602-E | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G552R - 20129283) |
SCN3A | 605-E | None | 3 | SCN5A NM_198056 | Brugada syndrome ? (p.E555K - 12639704) |
SCN3A | 607-R | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus ? (p.R604H - 19236456) |
SCN3A | 616-R | None | 2 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A570V - 17397049) |
SCN3A | 617-H | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.L567Q - 10711933) |
SCN3A | 621-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R569W - 19716085) |
SCN3A | 624-N | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G579R - 16414944) |
SCN3A | 629-S | None | 2 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.S626G - 17347258) |
SCN3A | 631-S | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A586T - 21321465) |
SCN3A | 636-P | None | 1 | SCN9A NM_002977 | Erythermalgia, primary (p.P610T - 15955112) |
CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.P618L - 15048902) | ||||
SCN3A | 642-G | Probably Benign - (p.G642R - rs112457070) | 3 | ||
SCN3A | 667-T | None | 1 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.G615E - 11997281) |
SCN9A NM_002977 | Febrile seizures (p.N641Y - 19763161) | ||||
SCN3A | 670-L | None | 2 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L618F - 11997281) |
SCN3A | 671-P | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.L619F - 12673799) |
SCN3A | 672-P | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.R620C - 20129283) |
SCN3A | 675-T | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.T632M - 20129283) |
SCN3A | 679-T | Probably Benign - (p.T679M - rs139860168) | 1 | ||
SCN3A | 680-E | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.P637L - 15840476) |
SCN3A | 682-R | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G639R - 16922724/19716085) |
SCN9A NM_002977 | Febrile seizures (p.K655R - 19763161) | ||||
SCN3A | 683-K | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.P640A - 20129283) |
SCN3A | 690-Q | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.A647D - 20129283) |
SCN3A | 691-I | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.P648L - 15840476) |
SCN3A | 693-M | Probably Benign - (p.M693V - rs138331141) | 3 | ||
SCN3A | 697-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E654K - 19716085) |
SCN3A | 698-D | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.E655K - 18378609) |
SCN3A | 704-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R661W - 20129283) |
SCN3A | 711-I | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.I684M - 19763161) |
SCN3A | 712-L | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.G490R - 17224476) |
SCN3A | 716-M | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.L673P - 19716085) |
SCN3A | 723-R | None | 3 | SCN5A NM_198056 | Sudden infant death syndrome (p.R680H - 17210839) |
SCN3A | 724-Q | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.H681P - 11901046) |
SCN3A | 726-C | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.C683G - 20129283) |
SCN9A NM_002977 | Dravet syndrome ? (p.C699Y - 19763161) | ||||
CACNA1H NM_021098 | Epilepsy, childhood absence (p.R744Q - 12891677) | ||||
SCN3A | 727-P | None | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
SCN3A | 732-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R689C - 19716085, p.R689H - 16414944) |
SCN3A | 734-A | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.A691T - 15176425) |
SCN3A | 735-N | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q692K - 12566525) |
SCN3A | 740-W | None | 6 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G773D - 12891677) |
SCN3A | 744-D | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P701L - 19716085) |
SCN3A | 750-K | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
SCN3A | 751-H | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G784S - 12891677) |
SCN3A | 752-L | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.G709V - 20541041) |
SCN3A | 760-P | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P768L - 19350499) |
SCN5A NM_198056 | Brugada syndrome (p.P717L - 20129283) | ||||
SCN3A | 766-I | None | 9 | SCN9A NM_002977 | Febrile seizures ? (p.I739V - 19763161) |
SCN3A | 774-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T731I - 19716085) |
CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) | ||||
SCN3A | 775-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L783P - 17347258) |
SCN3A | 778-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A735E - 11901046, p.A735T - 20609320) Sudden unexplained nocturnal death syndrome (p.A735V - 11823453) |
SCN3A | 780-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E788K - 18076640) |
SCN3A | 782-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682) |
SCN3A | 789-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E746K - 20129283) |
SCN3A | 793-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q750R - 19716085) |
SCN3A | 795-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G752R - 12693506) |
SCN3A | 798-V | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.V831M - 12891677) |
SCN3A | 800-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T808S - 12566275) |
SCN3A | 801-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G758E - 20129283) |
SCN3A | 802-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I759F - 19862833) |
SCN3A | 804-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T812R - 17054684) |
SCN3A | 806-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
SCN3A | 807-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M764R - 20129283) |
SCN3A | 815-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D772N - 19716085) |
CACNA1H NM_021098 | Epilepsy, childhood absence (p.G848S - 12891677) | ||||
SCN3A | 816-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P773S - 20129283) |
SCN3A | 822-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q779K - 20541041) |
SCN3A | 832-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.V789I - 20129283) |
SCN3A | 835-S | None | 6 | SCN1A AB093548 | Dravet syndrome (p.S843R - 18930999/18930999) |
SCN3A | 843-N | None | 6 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A876T - 17696120) |
SCN3A | 845-E | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E853K - 17054684) |
SCN3A | 849-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
SCN3A | 850-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L823R - 19800314) |
SCN3A | 851-R | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R859C - 16525050) |
SCN5A NM_198056 | Long QT syndrome (p.R808P - 19862833) | ||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) | ||||
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | ||||
SCN3A | 853-F | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
SCN3A | 854-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
SCN3A | 857-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R814Q - 17442746) Cardiomyopathy, dilated (p.R814W - 15671429) |
SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) | ||||
SCN3A | 859-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F816Y - 19716085) |
SCN3A | 861-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
SCN3A | 867-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094) |
SCN3A | 869-N | Probably Benign - (p.N869S - rs139866701) | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R902W - 16754686) |
SCN3A | 871-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
SCN3A | 875-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) |
SCN9A NM_002977 | Erythermalgia, primary (p.I848T - 14985375) | ||||
SCN3A | 876-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G833R - 19862833) |
SCN3A | 878-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S835L - 15277732) |
SCN3A | 882-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L839P - 16426410) |
SCN3A | 883-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G840R - 19862833) |
SCN3A | 885-L | None | 9 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) |
SCN9A NM_002977 | Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) | ||||
SCN3A | 886-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T843A - 16244680) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) | ||||
SCN3A | 888-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V896L - 18930999) |
SCN3A | 890-A | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.A863P - 17135418) |
SCN3A | 891-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.I848F - 19716085) | ||||
SCN3A | 893-V | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V892I - 15048894) |
SCN3A | 894-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F902C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.F851L - 11901046/20129283) | ||||
SCN3A | 899-V | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.V872G - 19162012) |
SCN3A | 900-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
SCN3A | 906-K | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
SCN3A | 910-E | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.E867Q - 20129283) |
SCN3A | 919-C | None | 4 | SCN1A AB093548 | Dravet syndrome (p.C927F - 18930999) |
SCN3A | 923-R | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R931C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.R878C - HGOL, p.R878H - 20129283) | ||||
SCN9A NM_002977 | Congenital indifference to pain (p.R896Q - 20635406) | ||||
SCN3A | 926-M | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421) |
SCN3A | 927-N | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) |
SCN3A | 931-H | None | 9 | SCN1A AB093548 | Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708) |
SCN5A NM_198056 | Brugada syndrome (p.H886P - 20129283) | ||||
CACNA1H NM_021098 | Autism spectrum disorder ? (p.W962C - 16754686) | ||||
SCN3A | 934-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L942P - 17054684) |
SCN3A | 935-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I943N - 18930999) |
SCN3A | 936-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) |
SCN3A | 937-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F945L - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.F892I - 11901046) | ||||
SCN3A | 938-R | None | 9 | SCN1A AB093548 | Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) |
SCN5A NM_198056 | Brugada syndrome (p.R893C - 20129283, p.R893H - 20129283) | ||||
SCN3A | 941-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.C896S - 11901046) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) | ||||
SCN3A | 942-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G950E - 17347258) |
SCN3A | 944-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W952G - 18554359) |
SCN3A | 946-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E901K - 20129283) |
SCN3A | 949-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W957L - 17561957) |
SCN3A | 951-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C959R - 12754708) |
SCN3A | 952-M | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M960V - 12566275) |
SCN3A | 955-A | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.S910L - 11901046) |
SCN3A | 960-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C915R - 20129283) |
SCN3A | 962-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L917R - 20129283) |
SCN3A | 963-V | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
SCN3A | 965-M | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999) |
SCN3A | 968-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) |
SCN3A | 971-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G979R - 12566275) |
SCN3A | 972-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N927S - 16764707) |
SCN3A | 973-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L928P - 20129283) |
SCN3A | 974-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V982L - 19763161) |
SCN3A | 975-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V983A - 12566275) |
SCN3A | 977-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N985I - 12566275) |
SCN3A | 978-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211) |
SCN3A | 979-F | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
SCN3A | 980-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L935P - 20129283) |
SCN3A | 981-A | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
SCN3A | 982-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L990F - 18076640) |
CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) | ||||
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | ||||
SCN3A | 984-L | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
SCN3A | 985-S | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
SCN3A | 986-S | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
SCN3A | 990-D | None | 5 | SCN1A AB093548 | Dravet syndrome (p.D998G - 18930999) |
SCN3A | 1002-N | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.N1001K - 16417554) |
SCN3A | 1003-N | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1011I - 12566275) |
SCN3A | 1004-L | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1003I - 15048894) |
SCN3A | 1005-Q | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q960K - 19716085) |
SCN3A | 1010-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R965C - 11901046, p.R965H - 16764707) Long QT syndrome (p.R965L - 19716085) |
SCN3A | 1016-D | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R971C - 15840476) |
SCN3A | 1020-N | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R975W - 19322600) |
SCN3A | 1023-R | None | 3 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.R996C - 17145499) |
SCN3A | 1026-F | None | 3 | SCN1A AB093548 | Autism ? (p.I1034T - 12610651) |
SCN5A NM_198056 | Long QT syndrome (p.C981F - 19716085) | ||||
SCN3A | 1027-Q | None | 3 | SCN5A NM_198056 | Sudden adult death syndrome (p.C982R - 16712702) |
SCN3A | 1030-F | None | 2 | SCN1A AB093548 | Autism ? (p.F1038L - 12610651) |
SCN3A | 1032-R | Probably Benign - (p.R1032T - rs147300771) | 1 | ||
SCN3A | 1041-E | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A997T - 20129283) Sudden infant death syndrome (p.A997S - 11710892) |
SCN3A | 1043-N | Probably Benign - (p.N1043H - rs150421779) | 2 | ||
SCN3A | 1045-I | None | 2 | SCN5A NM_198056 | Cardiac conduction disease (p.P1008S - 20025708) |
SCN3A | 1048-C | Probably Benign - (p.C1048R - rs148308241) | 2 | ||
SCN3A | 1052-N | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
SCN3A | 1056-E | None | 2 | SCN1A AB093548 | Dravet syndrome (p.E1068K - 18930999) |
SCN3A | 1061-L | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.R1023H - 16344400) |
SCN3A | 1067-G | Probably Benign - (p.G1067R - rs140452818) | 1 | ||
SCN3A | 1079-S | None | 1 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A1089S - 17397049) |
SCN3A | 1084-V | Probably Benign - (p.V1084I - rs140990288) | 2 | ||
SCN3A | 1085-I | Probably Benign - (p.I1085V - rs144957412) | 2 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (S/T - LDGA) |
SCN3A | 1086-D | Probably Benign - (p.D1086N - rs149911613) | 2 | ||
SCN3A | 1101-V | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
SCN3A | 1107-V | Probably Benign - (p.V1107A - rs12474273) | 3 | ||
SCN3A | 1109-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E1053K - 11901046) |
SCN3A | 1111-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.D1055G - 20129283) |
SCN3A | 1115-L | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.E1170K - 17696120) |
SCN3A | 1125-E | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.T1069M - 15840476) |
SCN3A | 1133-L | None | 2 | SCN5A NM_198056 | Atrial fibrillation ? (p.T1131I - 18378609) |
SCN3A | 1135-A | Probably Benign - (p.A1135V - rs144155311) | 2 | ||
SCN3A | 1140-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E1138A - 19862833) |
SCN3A | 1142-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.S1140T - 20129283) |
SCN3A | 1148-L | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.L1123F - 19763161) |
SCN3A | 1162-D | None | 1 | SCN1A AB093548 | Hemiplegic migraine (p.T1174S - 18021921) |
SCN3A | 1167-A | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.D1166N - 19716085) |
SCN3A | 1172-G | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.Q1264H - 17696120) |
SCN3A | 1176-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1175C - HGOL) |
SCN3A | 1181-Q | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.A1180V - 19808398) |
SCN3A | 1185-E | None | 4 | SCN9A NM_002977 | Dravet syndrome ? (p.E1160Q - 19763161) |
SCN3A | 1187-G | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.A1186T - 19996378) |
SCN3A | 1192-W | None | 6 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445) |
SCN3A | 1194-N | None | 8 | SCN5A NM_198056 | Sudden unexplained nocturnal death syndrome (p.R1193Q - 11823453) |
SCN3A | 1195-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1207P - 18413471) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) | ||||
SCN3A | 1196-R | None | 9 | SCN5A NM_198056 | Ventricular tachycardia (p.R1195H - 19632629) |
SCN3A | 1198-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1210K - 19350499) |
SCN3A | 1200-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1199S - 19716085) |
SCN3A | 1207-W | None | 9 | SCN5A NM_198056 | Sudden cardiac death (p.W1206C - 18071069) |
CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) | ||||
SCN3A | 1209-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.E1211K - 19786696) |
SCN3A | 1219-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) |
SCN3A | 1220-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1219N - 20129283) |
SCN3A | 1221-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1233R - 12821740) |
SCN3A | 1226-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1238D - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.E1225K - 12106943) | ||||
SCN3A | 1227-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) |
SCN3A | 1229-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.Y1228H - 20129283) |
SCN3A | 1230-I | Probably Benign - (p.I1230T - rs146060800) | 4 | ||
SCN3A | 1232-Q | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.E1231K - 15840476) |
SCN3A | 1233-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1245Q - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.R1232Q - 20129283) Ventricular fibrillation, idiopathic ? (p.R1232W - 9521325) | ||||
SCN3A | 1237-K | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) |
SCN5A NM_198056 | Brugada syndrome (p.K1236N - 11901046) Brugada syndrome ? (p.K1236R - 21126620) | ||||
SCN3A | 1238-T | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081) |
SCN3A | 1240-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1239P - 20129283) |
SCN3A | 1241-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1240Q - 11901046) |
SCN3A | 1242-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1241S - 19862833) |
SCN3A | 1243-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1255D - 18930999) |
SCN3A | 1244-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1243N - 20129283) |
SCN3A | 1248-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1260P - 20431604) |
SCN3A | 1250-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1249D - 20129283) |
SCN3A | 1251-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1263L - 12566275) |
SCN5A NM_198056 | Long QT syndrome, drug-associated (p.F1250L - 11997281) | ||||
SCN3A | 1253-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1265P - 12083760) |
SCN3A | 1254-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1253G - 20129283) |
SCN3A | 1258-K | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608) |
SCN3A | 1262-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) |
SCN3A | 1263-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1275V - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1262S - 15338453) | ||||
SCN3A | 1264-F | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
SCN3A | 1272-W | None | 9 | SCN1A AB093548 | Dravet syndrome (p.W1284S - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.W1271C - 20129283) | ||||
SCN3A | 1275-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1287P - 20431604) |
SCN3A | 1276-D | None | 9 | SCN5A NM_198056 | Atrial standstill (p.D1275N - 12522116) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) | ||||
SCN3A | 1279-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1278N - 19841300) |
SCN3A | 1280-V | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
SCN3A | 1282-V | None | 9 | SCN5A NM_198056 | Brugada syndrome ? (p.V1281F - 21126620) |
SCN3A | 1284-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1283M - 19716085) |
SCN3A | 1289-A | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.A1288G - 20129283) |
SCN3A | 1292-L | None | 7 | SCN9A NM_002977 | Dravet syndrome ? (p.L1267V - 19763161) |
SCN3A | 1293-G | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
SCN3A | 1294-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.F1293S - 11901046) |
SCN3A | 1296-E | None | 8 | SCN1A AB093548 | Febrile seizures (p.E1308D - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.E1295K - 11304498) | ||||
SCN3A | 1297-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752) |
SCN3A | 1299-A | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.P1298L - 14523039) |
SCN3A | 1304-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R1316S - 18930999) |
SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) | ||||
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | ||||
SCN3A | 1305-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1304M - 10508990) |
SCN3A | 1307-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) | ||||
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | ||||
SCN3A | 1309-L | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.L1308F - 18599870) |
SCN3A | 1310-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1312T - 19783390) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) | ||||
SCN3A | 1312-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1311P - 20129283) |
SCN3A | 1314-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318) |
SCN3A | 1316-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S1328P - 18930999) |
SCN3A | 1317-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1319Q - 15048894) |
SCN3A | 1320-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1319V - 12106943) |
SCN3A | 1323-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1335M - 18413471) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) | ||||
SCN3A | 1324-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1323G - 20129283) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1299F - 17145499) | ||||
SCN3A | 1325-V | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
SCN3A | 1326-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1325S - 8541846) |
SCN3A | 1327-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1326S - 19716085) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) | ||||
SCN3A | 1328-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1330F - 12243921) |
SCN3A | 1330-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G1329S - 21216356) |
SCN3A | 1331-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1330P - 11535573, p.A1330T - 12566525) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) | ||||
SCN3A | 1333-P | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.P1332L - 14676229) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) | ||||
SCN9A NM_002977 | Erythermalgia, primary (p.P1308L - 20429905) | ||||
SCN3A | 1334-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1333Y - 16922724) |
SCN3A | 1335-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1334V - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) | ||||
SCN3A | 1339-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1338V - 19716085) |
SCN3A | 1341-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444) |
SCN5A NM_198056 | Brugada syndrome (p.V1340I - 20129283) | ||||
SCN3A | 1342-C | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
SCN3A | 1343-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1355P - 14738421) |
SCN3A | 1345-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1344L - 20129283, p.F1344S - 16616735) |
SCN3A | 1346-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1358S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.W1345C - 20339501) | ||||
SCN3A | 1347-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1346I - 20129283, p.L1346P - 20129283) |
SCN3A | 1351-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1350T - 12845244) |
SCN3A | 1352-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M1351R - 20129283) |
SCN3A | 1353-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
SCN3A | 1354-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202) |
SCN5A NM_198056 | Brugada syndrome (p.V1353M - 20129283) | ||||
SCN3A | 1355-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N1367K - 18930999) |
SCN3A | 1359-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1358W - 20129283) |
SCN3A | 1360-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1359N - 20129283) |
SCN3A | 1361-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1360C - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) | ||||
SCN3A | 1364-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1363Y - 16764707) |
SCN3A | 1368-T | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.D1463N - 12891677) |
SCN3A | 1378-V | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1390M - 12083760) |
SCN3A | 1379-N | None | 5 | SCN1A AB093548 | Dravet syndrome (p.N1391S - 18930999) |
SCN3A | 1380-N | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.N1380K - HGOL) |
SCN3A | 1381-L | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.H1393P - 17129991) |
SCN3A | 1382-S | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.S1382I - 12106943) |
SCN3A | 1383-D | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1395Y - 21114141) |
SCN3A | 1384-C | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1396G - 17347258) |
SCN3A | 1390-Q | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1404A - 17129991) |
SCN3A | 1391-A | None | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
SCN3A | 1399-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1414Y - 17561957) |
SCN3A | 1401-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1416G - 18930999) |
SCN3A | 1403-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1405L - 12106943, p.V1405M - 20129283) |
SCN3A | 1404-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1406R - 12106943, p.G1406E - 20129283) |
SCN3A | 1406-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1408R - 11748104) |
SCN3A | 1407-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1422C - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.Y1409C - 20129283) | ||||
SCN3A | 1410-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1412F - 20129283) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) | ||||
SCN3A | 1411-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1426R - 17054684) |
SCN3A | 1413-V | None | 9 | SCN1A AB093548 | Febrile seizures (p.V1428A - 11524484) |
CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) | ||||
SCN3A | 1416-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.F1431I - 18930999) |
SCN3A | 1417-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1419E - 20129283) |
CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.E1115K - 20817017) | ||||
SCN3A | 1418-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.G1420R - 20129283) Brugada syndrome ? (p.G1420V - 21126620) | ||||
SCN3A | 1419-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1434R - 12083760) |
SCN3A | 1422-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1437M - 18930999) |
SCN3A | 1425-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1427S - 20129283) |
SCN3A | 1426-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1441P - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A1428V - 20129283) | ||||
SCN3A | 1430-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1432G - 10727653) Long QT syndrome (p.R1432S - 19716085) |
SCN3A | 1431-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1433V - 20129283) |
SCN3A | 1435-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760) |
SCN3A | 1436-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1451L - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.P1438L - 18156160) | ||||
SCN3A | 1439-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1441Q - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) | ||||
SCN3A | 1446-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1461I - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I1448L - 20129283, p.I1448T - 20129283) | ||||
SCN3A | 1447-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1462C - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.Y1449C - 20129283) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) | ||||
SCN3A | 1448-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1463S - 12821740) |
SCN3A | 1449-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1451D - 20129283) |
SCN3A | 1450-I | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
SCN3A | 1455-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1470W - 17561957) |
SCN3A | 1456-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1458Y - 15840476) |
SCN3A | 1460-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1475S - 17054684) |
SCN3A | 1461-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1463Y - 20129283) |
SCN3A | 1463-F | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
SCN3A | 1465-G | None | 9 | SCN1A AB093548 | Myoclonic-astatic epilepsy (p.G1480V - 17347258) |
SCN3A | 1466-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1468F - 20129283) |
SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) | ||||
SCN3A | 1468-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.I1473M - 19786696) |
SCN3A | 1469-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1484G - 18930999) |
SCN3A | 1470-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1472S - 19716085) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) | ||||
SCN3A | 1471-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1473C - 18060054, p.F1473S - 20339117) |
SCN9A NM_002977 | Erythermalgia, primary (p.F1449V - 15958509) | ||||
SCN3A | 1474-Q | None | 7 | SCN1A AB093548 | Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696) |
SCN3A | 1476-K | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
SCN3A | 1479-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G1481E - 15840476) |
SCN4A NM_000334 | Myotonia (p.G1306A - 8308722, p.G1306E - 8308722) Paramyotonia congenita (p.G1306V - 1310898) | ||||
SCN3A | 1483-I | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.I1461T - 17145499) |
SCN3A | 1484-F | None | 6 | SCN1A AB093548 | Hemiplegic migraine 2 (p.F1499L - 19332696) |
SCN5A NM_198056 | Sudden adult death syndrome (p.F1486L - 17210839) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.F1462V - 17145499) | ||||
SCN3A | 1485-M | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.M1487L - 19716085) |
SCN3A | 1486-T | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1488R - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.T1464I - 17145499) | ||||
SCN3A | 1487-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1489D - 19716085) |
SCN3A | 1488-E | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1503K - 19783390) |
SCN3A | 1491-K | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.K1493R - 19167345) |
SCN3A | 1492-Y | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.Y1494N - 18341814) |
SCN3A | 1493-Y | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.Y1495S - 19716085) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1086C - 10590402) Malignant hyperthermia (p.R1086H - 9199552, p.R1086S - 20431982) | ||||
SCN3A | 1494-N | Probably Benign - (p.N1494S - rs145699902) | 4 | ||
SCN3A | 1495-A | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
SCN3A | 1496-M | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.M1498T - 16414944, p.M1498V - 19716085) |
SCN3A | 1499-L | None | 2 | SCN1A AB093548 | Dravet syndrome (p.L1514S - 20522430) |
SCN5A NM_198056 | Long QT syndrome (p.L1501V - 10973849) | ||||
SCN3A | 1500-G | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.G1502S - 12106943) |
SCN3A | 1503-K | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.K1505N - 19716085) |
SCN3A | 1510-R | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.R1512W - 10690282) |
SCN3A | 1519-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1521K - 20129283) |
SCN3A | 1523-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1538I - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.V1525M - 20129283) | ||||
SCN3A | 1524-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1539P - 18076640) |
SCN3A | 1528-F | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.F1543S - 17347258) |
SCN3A | 1529-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1544A - 18930999) |
SCN3A | 1530-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1545V - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.V1532I - 19716085) | ||||
SCN3A | 1533-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
SCN3A | 1536-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
SCN3A | 1543-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
SCN3A | 1546-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E1561K - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.E1548K - 20129283) | ||||
SCN3A | 1551-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1553R - 21321465) |
SCN3A | 1558-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1563V - 12243921) |
SCN5A NM_198056 | Long QT syndrome (p.L1560F - 19716085) | ||||
SCN3A | 1560-R | None | 9 | SCN1A AB093548 | Rasmussen encephalitis (p.R1575C - 18031552) |
SCN9A NM_002977 | Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) | ||||
SCN3A | 1564-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1579E - 18930999) |
SCN3A | 1566-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
SCN3A | 1569-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1571C - 20129283) |
SCN3A | 1571-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1586E - 18930999) |
SCN3A | 1572-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1574K - 19808440) |
SCN3A | 1573-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1588R - 17561957) |
SCN3A | 1578-V | Probably Benign - (p.V1578I - rs138241452) | 9 | ||
SCN3A | 1580-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1582P - 19843921) |
SCN3A | 1581-R | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.R1583C - 20129283, p.R1583H - 20129283) | ||||
SCN3A | 1591-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.I1596S - 17386050) |
SCN5A NM_198056 | Long QT syndrome (p.I1593M - 19716085) | ||||
SCN3A | 1592-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1594S - 19716085) |
SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) | ||||
SCN3A | 1593-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1608Y - 17561957) |
SCN5A NM_198056 | Atrioventricular conduction block (p.D1595N - 11804990) Cardiomyopathy, dilated (p.D1595H - 15671429) | ||||
SCN3A | 1594-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1596I - 19716085) |
SCN3A | 1595-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1597M - 19862833) |
SCN3A | 1596-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1611F - 12566275) |
SCN3A | 1597-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1612I - 18930999) |
SCN3A | 1600-S | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
SCN3A | 1601-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) |
SCN3A | 1602-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1604M - 20129283) |
SCN3A | 1606-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
SCN3A | 1607-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1609W - 16922724) |
SCN3A | 1609-M | Probably Benign - (p.M1609I - rs138746732) | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
SCN3A | 1611-E | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.Q1613L - 20129283) |
SCN3A | 1615-V | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1630M - 17561957) |
SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) | ||||
SCN3A | 1617-P | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1632S - 12566275) |
SCN3A | 1618-T | None | 7 | SCN5A NM_198056 | Cardiac conduction disease (p.T1620K - 18065446) Ventricular fibrillation, idiopathic (p.T1620M - 9521325) |
SCN3A | 1621-R | None | 6 | SCN1A AB093548 | Lennox-Gastaut syndrome (p.R1636Q - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.R1623Q - 9506831, p.R1623L - 10973849) | ||||
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | ||||
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | ||||
SCN3A | 1622-V | None | 6 | SCN1A AB093548 | Hepatic coma (p.V1637E - 20392657) |
SCN3A | 1624-R | None | 6 | SCN1A AB093548 | Dravet syndrome (p.R1639G - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.R1626H - 18752142, p.R1626P - 10961955) | ||||
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) | ||||
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | ||||
SCN3A | 1627-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.R1629Q - 20129283, p.R1629G - 19843921) |
SCN3A | 1629-G | None | 7 | SCN5A NM_198056 | Long QT syndrome, malignant perinatal variant (p.G1631D - 19808432) |
SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.G1607R - 21079636) | ||||
SCN3A | 1630-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1645Q - 17347258) |
SCN5A NM_198056 | Nodal rhythm (p.R1632H - 14523039) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) | ||||
SCN3A | 1631-I | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
SCN3A | 1633-R | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760) |
CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) | ||||
SCN3A | 1634-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine (p.L1649Q - 17397047) |
SCN3A | 1640-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1642E - 20129283) |
SCN3A | 1641-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444) |
SCN3A | 1642-R | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992) |
SCN5A NM_198056 | Brugada syndrome (p.R1644C - 16344400) Long QT syndrome (p.R1644H - 8541846) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) | ||||
SCN3A | 1643-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957) |
SCN5A NM_198056 | Long QT syndrome (p.T1645M - 10508990) | ||||
SCN3A | 1646-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1661S - 12754708) |
SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) | ||||
SCN3A | 1647-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1649V - 17081365) |
SCN3A | 1648-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1650F - 19716085) |
SCN3A | 1649-M | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1664K - 18930999) |
SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) | ||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.M1627K - 17145499) | ||||
SCN3A | 1650-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1652R - 17698727, p.M1652T - 19716085) |
SCN3A | 1653-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1668A - 12821740) |
SCN3A | 1654-A | None | 9 | SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) | ||||
SCN3A | 1658-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1660V - 16414944) |
CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) | ||||
SCN3A | 1659-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1674R - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.G1661R - 20129283/20129283) | ||||
SCN3A | 1660-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1675R - 18930999) |
SCN3A | 1662-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1677F - 18930999) |
SCN3A | 1665-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1667I - 11274952) |
SCN3A | 1668-I | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
SCN3A | 1670-A | None | 9 | SCN1A AB093548 | Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275) |
SCN5A NM_198056 | Brugada syndrome (p.S1672Y - 20129283) | ||||
SCN3A | 1672-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1687S - 17561957) |
CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) | ||||
SCN3A | 1677-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1692S - 14738421) |
SCN3A | 1678-A | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.A1680T - 16712702) |
SCN3A | 1679-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1694C - 14738421) |
SCN3A | 1683-E | None | 6 | CACNA1A X99897 | Hemiplgic migraine ? (p.D1726N - 20837964) |
SCN3A | 1689-M | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
SCN3A | 1692-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1707V - 17347258) |
SCN3A | 1694-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1709I - 12566275) |
SCN3A | 1696-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1698T - 20129283) |
SCN3A | 1698-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1713N - 16122630) |
SCN3A | 1699-M | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684) |
SCN3A | 1701-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1716R - 17561957) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) | ||||
SCN3A | 1703-F | None | 9 | SCN5A NM_198056 | Sudden infant death syndrome (p.F1705S - 18596570) |
SCN3A | 1704-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q1706H - 21321465) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) | ||||
SCN3A | 1706-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1721R - 17347258) |
SCN3A | 1707-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T1709R - 20129283, p.T1709M - 17697823) |
SCN3A | 1708-S | None | 9 | SCN5A NM_198056 | Ventricular fibrillation, idiopathic (p.S1710L - 10940383) |
SCN3A | 1709-A | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
SCN3A | 1710-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1725C - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1712S - 20129283) | ||||
SCN3A | 1711-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1726R - 17347258) |
SCN3A | 1712-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1714G - 16266370) |
SCN3A | 1720-N | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.N1722D - 20031634) |
SCN3A | 1721-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1723N - 19716085) |
SCN3A | 1723-P | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P1725L - 19862833) |
SCN3A | 1726-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1728R - 20129283, p.C1728W - 20129283) |
SCN3A | 1727-D | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566) |
SCN3A | 1734-G | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1749E - 12754708) |
SCN3A | 1738-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1739W - 19716085) |
SCN3A | 1739-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G1740R - 11901046) |
SCN3A | 1741-C | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1756G - 19563458) |
SCN9A NM_002977 | Congenital indifference to pain (p.C1719R - 20692858) | ||||
SCN3A | 1742-G | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G1743E - 12106943) Brugada syndrome ? (p.G1743R - 12639704) |
SCN3A | 1743-N | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
SCN3A | 1745-S | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.A1746T - 20541041) |
SCN3A | 1746-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1747M - 20541041) |
SCN3A | 1747-G | None | 9 | SCN1A AB093548 | Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684) |
SCN3A | 1750-F | None | 9 | SCN1A AB093548 | Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) |
SCN3A | 1754-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) |
SCN3A | 1756-I | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) |
SCN3A | 1758-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1773F - 17054684) |
SCN3A | 1760-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1761H - 19716085, p.L1761F - 19716085) |
SCN3A | 1762-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1763M - 15485686) |
SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) | ||||
SCN3A | 1763-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1764F - 19808440) |
SCN3A | 1765-M | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M1780T - 12821740) |
SCN5A NM_198056 | Long QT syndrome (p.M1766L - 12123767) | ||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | ||||
SCN3A | 1766-Y | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421) |
SCN5A NM_198056 | Long QT syndrome (p.Y1767C - 16414944) | ||||
SCN3A | 1767-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.I1768V - 12566525) | ||||
SCN3A | 1768-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) |
SCN3A | 1770-I | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
SCN3A | 1771-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1772V - 19996378) |
SCN3A | 1772-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1787K - 17561957) |
SCN3A | 1773-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1774S - 16038262) Long QT syndrome (p.N1774D - 19996378) |
SCN3A | 1776-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1777M - 11463728) |
SCN3A | 1778-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1779M - 15840476) |
SCN3A | 1780-E | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615) |
SCN3A | 1783-E | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.E1784K - 10377081) |
SCN3A | 1785-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1786Q - 16712702) |
SCN3A | 1786-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.S1787N - 10973849) |
SCN3A | 1788-D | None | 8 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.A1874V - 16754686) |
SCN3A | 1789-D | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.D1790G - 9686753) |
SCN3A | 1793-F | None | 8 | SCN1A AB093548 | Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275) |
SCN3A | 1794-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.Y1795H - 11410597) Long QT syndrome (p.Y1795C - 11410597) |
SCN3A | 1797-W | None | 8 | SCN1A AB093548 | Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275) |
SCN3A | 1803-D | Benign - (p.D1803N - rs3731762) | 9 | ||
SCN3A | 1806-Q | None | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
SCN3A | 1816-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1831S - 12566275) |
SCN3A | 1817-A | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1486P - 19578023) |
SCN3A | 1818-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1819N - 16922724) |
SCN3A | 1820-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1835F - 18930999) |
SCN3A | 1823-P | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.P1824A - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) | ||||
SCN3A | 1824-L | None | 8 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L1825P - 12208804) |
SCN3A | 1825-L | None | 7 | SCN5A NM_198056 | Atrial fibrillation ? (p.R1826C - 18378609) Sudden infant death syndrome (p.R1826H - 11710892) |
SCN3A | 1828-K | Probably Benign - (p.K1828R - rs143406452) | 7 | ||
SCN3A | 1829-P | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1500R - 12111638) |
SCN3A | 1831-K | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.Q1832E - HGOL) |
SCN3A | 1834-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1508P - 12111638) |
SCN3A | 1837-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1852T - 12919402) |
SCN3A | 1838-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1839G - 19716085) |
SCN3A | 1841-M | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640) |
SCN3A | 1842-V | None | 6 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.V1857L - 15715999) |
SCN3A | 1849-C | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.C1850S - 18252757) |
SCN3A | 1851-D | None | 7 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1866Y - 15525788) |
SCN3A | 1852-I | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1867T - 18251839) |
SCN3A | 1860-V | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.V1861I - 20129283) |
SCN3A | 1861-L | Probably Benign - (p.L1861F - rs146618194) | 8 | ||
SCN3A | 1862-G | Probably Benign - (p.G1862C - rs41265137) | 7 | ||
SCN3A | 1866-E | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1881D - 14504318) |
SCN3A | 1871-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K1872N - 20129283) |
SCN3A | 1874-M | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.M1875T - 18929244) |
SCN3A | 1875-E | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
SCN3A | 1878-F | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
SCN3A | 1894-T | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1909I - 12083760) |
SCN3A | 1896-K | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R1897W - 19716085) |
SCN3A | 1897-R | None | 4 | SCN2A NM_021007 | Autism ? (p.R1902C - 12610651) |
SCN3A | 1900-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1901Q - 19716085) |
SCN3A | 1903-S | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.S1904L - 18708744) |
SCN3A | 1907-I | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1922T - 17347258) |
SCN3A | 1908-Q | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.Q1909R - 15840476) |
SCN3A | 1912-R | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) |
SCN5A NM_198056 | Long QT syndrome (p.R1913H - 16414944) | ||||
SCN3A | 1913-C | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1928G - 18413471) |
SCN3A | 1922-N | Probably Benign - (p.N1922T - rs147193145) | 3 | ||
SCN3A | 1923-I | Probably Benign - (p.I1923T - rs138027069) | 2 | SCN5A NM_198056 | Brugada syndrome (p.A1924T - 10690282) |
SCN3A | 1934-G | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G1935S - 16267250) |
SCN3A | 1935-R | None | 0 | SCN5A NM_198056 | Brugada syndrome (p.E1938K - 20129283) |
SCN3A | 1940-I | None | 1 | SCN1A AB093548 | Autism ? (p.I1955T - 12610651) |
SCN3A | 1942-Q | Probably Benign - (p.Q1942R - rs149264761) | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1957G - 14504318) |
SCN3A | 1946-I | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.A1949S - 15840476) |
SCN3A | 1948-K | None | 2 | SCN5A NM_198056 | Atrial fibrillation (p.V1951M - 18378609) Brugada syndrome (p.V1951L - 11901046) |
SCN3A | 1957-K | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.S1964F - 21126620) |
SCN3A | 1961-S | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.I1968S - 16344400) |
SCN3A | 1970-Y | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.Y1977N - 19716085) |
SCN3A | 1980-K | None | 1 | SCN5A NM_198056 | Atrial fibrillation (p.N1987K - 18088563) |
SCN3A | 1984-D | None | 1 | CACNA1A X99897 | Episodic ataxia 2 ? (p.R2091Q - 20663518) |
SCN3A | 1992-G | None | 3 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.D2130N - 20817017) |
SCN3A | 1996-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R2012C - 19716085) |
SCN3A | 1999-Q | Probably Benign - (p.Q1999H - rs145220602) | 4 | ||
SCN9A (paralogue of LQTS gene SCN5A) | View alignment | ||||
Gene | Residue | Known Variants in SCN9A | Consensus | Paralogue | Disease-causing Variants in Paralogues |
SCN9A | 1-M | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.A2T - 20609320) |
SCN9A | 8-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G9V - 16922724) |
SCN9A | 10-Q | Other Disease Phenotype - Erythermalgia, primary (p.Q10R - 19369487) | 2 | ||
SCN9A | 17-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R18Q - 19716085, p.R18W - 15840476) |
SCN9A | 25-Q | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R27T - 20729507) |
SCN9A | 26-R | Probably Benign - (p.R26H - rs111404258) | 2 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) |
SCN5A NM_198056 | Brugada syndrome (p.R27H - 11901046) | ||||
SCN9A | 29-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E30G - 19716085) |
SCN9A | 34-E | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G35S - 11960580) |
SCN9A | 38-E | None | 2 | SCN5A NM_198056 | Arrhythmia, lidocaine-induced (p.R43Q - 18848812) |
SCN9A | 40-K | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.A39V - 17224476) |
SCN9A | 43-D | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.E48K - 19716085) |
SCN9A | 47-P | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.P52S - 19716085) |
SCN9A | 48-K | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.R53Q - 19716085) |
SCN9A | 56-G | None | 3 | SCN1A AB093548 | Dravet syndrome (p.G58V - 18930999) |
SCN9A | 59-L | None | 3 | SCN1A AB093548 | Dravet syndrome (p.L61F - 18930999) |
SCN9A | 61-F | None | 2 | SCN1A AB093548 | Dravet syndrome (p.F63L - 20729507) |
SCN9A | 62-I | Other Disease Phenotype - Febrile seizures (p.I62V - 19763161) | 3 | ||
SCN9A | 65-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.N70K - 20129283) |
SCN9A | 72-S | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S74P - 17561957) |
SCN9A | 76-E | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E78D - 12821740) |
SCN9A | 77-D | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D79H - 17347258) |
SCN9A | 79-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D84N - 20129283) |
SCN9A | 82-Y | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y84C - 17347258) |
SCN9A | 88-F | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F90S - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.F93S - 20129283) | ||||
SCN9A | 89-I | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I91T - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.I94S - 20129283) | ||||
SCN9A | 90-V | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V95I - 17081365) |
SCN9A | 99-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.R104Q - 11960580, p.R104W - 20129283) Long QT syndrome (p.R104G - 19716085) | ||||
SCN9A | 101-N | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S103G - 12566275) |
SCN9A | 104-P | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.N109K - 19843921) |
SCN9A | 108-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V113I - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) | ||||
SCN9A | 110-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T112I - 12566275) |
SCN5A NM_198056 | Long QT syndrome (p.S115G - 19716085) | ||||
SCN9A | 116-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R118S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R121Q - 20129283, p.R121W - 19606473) | ||||
SCN9A | 120-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V125L - 15840476) |
SCN9A | 121-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K126E - 12051963) |
SCN9A | 122-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I124N - 18930999) |
SCN9A | 131-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L136P - 17697823) |
SCN9A | 133-M | None | 9 | SCN5A NM_198056 | Atrial fibrillation (p.M138I - 18378609) |
SCN9A | 136-I | Other Disease Phenotype - Erythermalgia, primary (p.I136V - 17294067) | 9 | SCN4A NM_000334 | Myotonia (p.I141V - 19015483) |
SCN9A | 141-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V146M - 20129283) |
SCN9A | 143-M | None | 9 | SCN1A AB093548 | Febrile seizures (p.M145T - 16326807) |
SCN9A | 149-P | Other Disease Phenotype - Febrile seizures (p.P149Q - 19763161, rs121908921) | 5 | ||
SCN9A | 156-E | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.E161Q - 20129283, p.E161K - 12106943) |
SCN9A | 160-T | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T162P - 17054684) |
SCN9A | 161-G | None | 7 | SCN1A AB093548 | Dravet syndrome (p.G163E - 18076640) |
SCN9A | 166-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
SCN9A | 169-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258) |
SCN9A | 170-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K175N - 20129283) |
SCN9A | 171-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I176M - 19996378) |
SCN9A | 173-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A178G - 20129283) | ||||
SCN9A | 175-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) | ||||
SCN9A | 177-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C182R - 20129283) |
SCN9A | 178-V | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.F161L - 12891677) |
SCN9A | 180-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A185V - 20129283) Long QT syndrome (p.A185T - 15176425) |
SCN9A | 182-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T187I - 16325048) |
SCN9A | 185-R | Benign - (p.R185H - rs73969684) | 9 | SCN2A NM_021007 | Febrile and afebrile seizures (p.R188W - 11371648) |
SCN5A NM_198056 | Long QT syndrome (p.R190Q - 17905336, p.R190G - 15176425) | ||||
SCN9A | 186-D | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D188V - 11254444) |
SCN9A | 188-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W190R - 14738421) |
SCN9A | 189-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) |
SCN9A | 192-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684) |
SCN9A | 197-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T199R - 17347258) |
SCN9A | 199-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A204V - 20129283) |
SCN9A | 201-L | Probably Benign - (p.L201V - rs80356465) | 8 | ||
SCN9A | 206-N | Probably Benign - (p.N206D - rs80356466) | 6 | ||
SCN9A | 207-L | None | 6 | SCN5A NM_198056 | Atrial standstill ? (p.L212P - 16188595) Brugada syndrome (p.L212Q - 20129283) |
SCN9A | 210-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V212A - 18076640) |
SCN9A | 211-S | Other Disease Phenotype - Erythermalgia, primary (p.S211P - 20123784) | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.S216L - 19412328) |
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) | ||||
SCN9A | 214-R | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
SCN9A | 215-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T217K - 17054684) |
SCN5A NM_198056 | Nodal rhythm (p.T220I - 14523039) | ||||
SCN9A | 216-F | Other Disease Phenotype - Erythermalgia, primary (p.F216S - 15955112) | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) |
SCN9A | 217-R | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.R222Q - 19412328) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) | ||||
SCN9A | 218-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V223L - 20129283) |
SCN9A | 220-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R223Q - 15048894) |
SCN5A NM_198056 | Cardiac conduction disease (p.R225W - 12574143) Long QT syndrome (p.R225Q - 16922724) | ||||
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | ||||
SCN9A | 221-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A223E - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.A226V - 11901046) | ||||
SCN9A | 223-K | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
SCN9A | 224-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T226M - 17347258) |
SCN9A | 225-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I227S - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I230V - 11901046) Cardiac conduction disease (p.I230T - 20564468) | ||||
SCN9A | 227-V | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.V232I - 18599870) |
CACNA1H NM_021098 | Autism spectrum disorder ? (p.R212R - 16754686) | ||||
SCN9A | 228-I | Other Disease Phenotype - Dravet syndrome ? (p.I228M - 19763161, rs71428908) | 9 | ||
SCN9A | 230-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G232S - 18930999) |
SCN9A | 234-I | Other Disease Phenotype - Erythermalgia, primary (p.I234T - 20385509) | 9 | SCN5A NM_198056 | Long QT syndrome (p.I239V - 15176425) |
SCN9A | 235-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V240M - 19716085) |
SCN9A | 237-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | ||||
SCN9A | 238-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) |
SCN9A | 240-Q | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q245K - 15840476) |
SCN9A | 241-S | Other Disease Phenotype - Erythermalgia, primary (p.S241T - 16216943) | 9 | SCN1A AB093548 | Dravet syndrome (p.S243Y - 18930999) |
SCN9A | 242-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V247L - 19716085) |
SCN9A | 245-L | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
SCN9A | 249-M | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.M252V - 20371507) |
SCN9A | 250-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I252N - 15087100) |
SCN9A | 257-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S259R - 20431604) |
SCN9A | 258-V | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V261M - 20371507) |
SCN9A | 260-A | None | 9 | SCN2A NM_021007 | Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) |
SCN9A | 261-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine and epilepsy (p.L263V - 19220312) |
SCN9A | 263-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G265W - 12566275) |
SCN9A | 265-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q270K - 20129283) |
SCN9A | 267-F | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
SCN9A | 269-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
SCN9A | 270-N | None | 9 | SCN5A NM_198056 | Long QT syndrome & atrial fibrillation (p.N275K - 18452873) |
SCN9A | 271-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L276Q - 17697823) |
SCN9A | 272-K | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
SCN9A | 273-H | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.H278D - 20129283) |
SCN9A | 275-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) |
CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) | ||||
SCN9A | 277-R | Probably Benign - (p.R277Q - rs146758972) | 7 | SCN5A NM_198056 | Brugada syndrome (p.R282C - 20129283, p.R282H - 11901046) |
SCN9A | 278-N | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) |
SCN9A | 279-S | None | 5 | SCN1A AB093548 | Dravet syndrome (p.P281L - 18930999, p.P281S - 18930999) |
SCN9A | 284-E | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G289S - 19716085) |
SCN9A | 287-E | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G292S - 15277732) |
SCN9A | 289-I | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V294M - 11901046) |
SCN9A | 293-L | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.G298S - 11804990) |
SCN9A | 301-K | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R322I - 17561957) |
SCN9A | 304-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.L315P - 20129283) |
SCN9A | 305-Y | None | 6 | SCN2A NM_021007 | Neonatal-infantile seizures (p.F328V - 19783390) |
SCN9A | 306-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K317N - 14625171) |
SCN9A | 308-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G319S - 11901046) |
SCN9A | 309-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.T320N - 20129283) |
SCN9A | 314-L | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.L325R - 15890323) |
SCN9A | 319-T | None | 4 | SCN1A AB093548 | Dravet syndrome (p.S340F - 18930999) |
SCN9A | 322-G | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G343D - 12566275) |
SCN9A | 324-C | None | 5 | SCN1A AB093548 | Dravet syndrome (p.C345R - 18930999) |
SCN9A | 325-P | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.P336L - 17075016) |
SCN9A | 329-T | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.R340Q - 15176425, p.R340W - 19716085) |
SCN9A | 330-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
SCN9A | 332-K | None | 8 | SCN3A NM_006922 | Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) |
SCN9A | 334-G | None | 8 | SCN1A AB093548 | Dravet syndrome (p.G355D - 18930999) |
SCN9A | 335-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R356G - 17561957) |
SCN9A | 336-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N357I - 18930999) |
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) | ||||
SCN9A | 337-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P358T - 17561957) |
SCN9A | 340-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G351D - 20129283, p.G351V - 12051963) |
SCN9A | 342-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T353I - 17198989) |
SCN9A | 345-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D366E - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.D356N - 16325048) | ||||
SCN9A | 356-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R367C - 12106943, p.R367L - 20129283) Sudden unexplained nocturnal death syndrome (p.R367H - 11823453) | ||||
SCN9A | 357-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L378Q - 18930999) |
SCN9A | 358-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M369K - 12106943) |
SCN9A | 359-T | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.T370M - 16712702) |
SCN9A | 362-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F383L - 17054684) |
SCN9A | 363-W | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W374G - 20129283) |
SCN9A | 365-N | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R376H - 15851228) |
SCN9A | 367-Y | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195) |
SCN9A | 372-R | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) |
SCN9A | 374-A | None | 8 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.A395P - 17347258) |
SCN9A | 375-G | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.G386R - 20129283, p.G386E - 20129283) |
SCN9A | 382-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F403L - 17347258) |
SCN9A | 385-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V406F - 19589774) |
SCN5A NM_198056 | Brugada syndrome (p.V396A - 20129283, p.V396L - 20129283) | ||||
SCN9A | 386-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I397T - 19716085) |
SCN9A | 389-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation during acute myocardial infarction (p.G400A - 17675083) |
CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) | ||||
SCN9A | 391-F | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) |
SCN9A | 392-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y413N - 17347258) |
SCN9A | 393-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L404Q - 15840476) |
SCN9A | 395-N | Other Disease Phenotype - Erythermalgia, primary (p.N395K - 15955112/17263810) | 9 | SCN5A NM_198056 | Brugada syndrome (p.N406S - 15877619) Long QT syndrome (p.N406K - 19716085/15840476) |
SCN9A | 398-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L409V - 19716085) |
SCN9A | 399-A | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G402S - 15863612) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) | ||||
SCN9A | 400-V | Other Disease Phenotype - Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) | 9 | SCN5A NM_198056 | Long QT syndrome (p.V411M - 10961955) |
SCN4A NM_000334 | Myotonia (p.V445M - 9392583) | ||||
SCN9A | 401-V | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.V422E - 17347258) |
SCN9A | 402-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A413E - 16414944, p.A413T - 16414944) |
SCN9A | 403-M | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G406R - 15454078) |
SCN9A | 405-Y | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740) |
CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) | ||||
SCN9A | 407-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.E430Q - 17386050) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) | ||||
SCN9A | 417-K | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.E428K - 18378609) |
SCN9A | 428-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E439K - 20129283) |
SCN9A | 429-R | Probably Benign - (p.R429C - rs80093819) | 3 | ||
SCN9A | 430-L | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
SCN9A | 434-Q | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.H445D - 18378609) |
SCN9A | 444-A | Probably Benign - (p.A444V - rs143430080) | 3 | ||
SCN9A | 463-S | None | 4 | SCN5A NM_198056 | Sudden adult death syndrome ? (p.L461V - 16712702) |
SCN9A | 464-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E462A - 19716085, p.E462K - 15840476) |
SCN9A | 472-S | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.N470K - 18378609) |
SCN9A | 490-S | Conflict - Febrile seizures ? (p.S490N - 19763161, rs58022607) | 2 | ||
SCN9A | 491-G | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P492S - 17156077) |
SCN9A | 498-E | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G499S - 12891677) |
SCN9A | 505-S | None | 2 | SCN1A AB093548 | Dravet syndrome (p.S525F - 18930999) |
SCN9A | 507-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D501G - 20129283) |
SCN9A | 515-H | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.H515Y - 15833171) |
SCN9A | 519-E | Other Disease Phenotype - Dravet syndrome ? (p.E519K - 19763161) | 2 | ||
SCN9A | 522-R | None | 1 | SCN1A AB093548 | Autism ? (p.R542Q - 12610651) |
SCN9A | 537-L | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.T512I - 12569159) |
SCN9A | 539-I | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.G514C - 11234013) |
SCN9A | 548-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R523C - 18752142) |
SCN9A | 551-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R526H - 20129283) |
SCN9A | 552-T | None | 2 | SCN2A NM_021007 | Neonatal-infantile seizures (p.A575V - 19786696) |
SCN9A | 555-F | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.F530V - 19716085) |
SCN9A | 557-F | None | 2 | SCN5A NM_198056 | Sudden infant death syndrome (p.F532C - 18596570) |
SCN9A | 562-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R535Q - 19716085) |
SCN9A | 570-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.F543L - 20129283) |
SCN9A | 578-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A551T - 16155735) |
SCN9A | 579-G | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G552R - 20129283) |
SCN9A | 582-E | None | 3 | SCN5A NM_198056 | Brugada syndrome ? (p.E555K - 12639704) |
SCN9A | 584-R | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus ? (p.R604H - 19236456) |
SCN9A | 593-R | None | 2 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A570V - 17397049) |
SCN9A | 594-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.L567Q - 10711933) |
SCN9A | 598-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R569W - 19716085) |
SCN9A | 601-N | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G579R - 16414944) |
SCN9A | 606-S | None | 2 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.S626G - 17347258) |
SCN9A | 608-S | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A586T - 21321465) |
SCN9A | 610-P | Other Disease Phenotype - Erythermalgia, primary (p.P610T - 15955112) | 1 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.P618L - 15048902) |
SCN9A | 641-N | Other Disease Phenotype - Febrile seizures (p.N641Y - 19763161, rs121908918) | 1 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.G615E - 11997281) |
SCN9A | 644-L | None | 2 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L618F - 11997281) |
SCN9A | 645-L | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.L619F - 12673799) |
SCN9A | 646-P | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.R620C - 20129283) |
SCN9A | 649-T | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.T632M - 20129283) |
SCN9A | 654-H | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.P637L - 15840476) |
SCN9A | 655-K | Other Disease Phenotype - Febrile seizures (p.K655R - 19763161, rs121908919) | 2 | SCN5A NM_198056 | Long QT syndrome (p.G639R - 16922724/19716085) |
SCN9A | 656-K | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.P640A - 20129283) |
SCN9A | 663-L | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.A647D - 20129283) |
SCN9A | 664-L | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.P648L - 15840476) |
SCN9A | 670-N | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E654K - 19716085) |
SCN9A | 671-D | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.E655K - 18378609) |
SCN9A | 676-Q | Probably Benign - (p.Q676K - rs139501019) | 3 | ||
SCN9A | 677-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R661W - 20129283) |
SCN9A | 684-I | Other Disease Phenotype - Dravet syndrome ? (p.I684M - 19763161) | 2 | ||
SCN9A | 685-L | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.G490R - 17224476) |
SCN9A | 689-V | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.L673P - 19716085) |
SCN9A | 696-R | None | 3 | SCN5A NM_198056 | Sudden infant death syndrome (p.R680H - 17210839) |
SCN9A | 697-Q | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.H681P - 11901046) |
SCN9A | 699-C | Other Disease Phenotype - Dravet syndrome ? (p.C699Y - 19763161) | 3 | SCN5A NM_198056 | Brugada syndrome (p.C683G - 20129283) |
CACNA1H NM_021098 | Epilepsy, childhood absence (p.R744Q - 12891677) | ||||
SCN9A | 700-P | None | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
SCN9A | 705-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R689C - 19716085, p.R689H - 16414944) |
SCN9A | 707-A | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.A691T - 15176425) |
SCN9A | 708-H | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q692K - 12566525) |
SCN9A | 713-W | None | 6 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G773D - 12891677) |
SCN9A | 717-P | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P701L - 19716085) |
SCN9A | 723-K | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
SCN9A | 724-K | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G784S - 12891677) |
SCN9A | 725-C | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.G709V - 20541041) |
SCN9A | 733-P | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P768L - 19350499) |
SCN5A NM_198056 | Brugada syndrome (p.P717L - 20129283) | ||||
SCN9A | 739-I | Other Disease Phenotype - Febrile seizures ? (p.I739V - 19763161) | 9 | ||
SCN9A | 747-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T731I - 19716085) |
CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) | ||||
SCN9A | 748-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L783P - 17347258) |
SCN9A | 751-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A735E - 11901046, p.A735T - 20609320) Sudden unexplained nocturnal death syndrome (p.A735V - 11823453) |
SCN9A | 753-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E788K - 18076640) |
SCN9A | 755-H | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682) |
SCN9A | 762-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E746K - 20129283) |
SCN9A | 766-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q750R - 19716085) |
SCN9A | 767-I | Probably Benign - (p.I767V - rs150658597) | 9 | ||
SCN9A | 768-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G752R - 12693506) |
SCN9A | 771-V | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.V831M - 12891677) |
SCN9A | 773-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T808S - 12566275) |
SCN9A | 774-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G758E - 20129283) |
SCN9A | 775-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I759F - 19862833) |
SCN9A | 777-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T812R - 17054684) |
SCN9A | 779-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
SCN9A | 780-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M764R - 20129283) |
SCN9A | 787-M | Probably Benign - (p.M787V - rs149707354) | 9 | ||
SCN9A | 788-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D772N - 19716085) |
CACNA1H NM_021098 | Epilepsy, childhood absence (p.G848S - 12891677) | ||||
SCN9A | 789-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P773S - 20129283) |
SCN9A | 795-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q779K - 20541041) |
SCN9A | 797-W | Probably Benign - (p.W797R - rs147639592) | 9 | ||
SCN9A | 805-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.V789I - 20129283) |
SCN9A | 808-S | None | 6 | SCN1A AB093548 | Dravet syndrome (p.S843R - 18930999/18930999) |
SCN9A | 810-V | Probably Benign - (p.V810M - rs41268671) | 5 | ||
SCN9A | 816-D | None | 6 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A876T - 17696120) |
SCN9A | 818-E | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E853K - 17054684) |
SCN9A | 822-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
SCN9A | 823-L | Other Disease Phenotype - Erythermalgia, primary (p.L823R - 19800314) | 9 | ||
SCN9A | 824-R | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R859C - 16525050) |
SCN5A NM_198056 | Long QT syndrome (p.R808P - 19862833) | ||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) | ||||
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | ||||
SCN9A | 826-F | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
SCN9A | 827-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
SCN9A | 830-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R814Q - 17442746) Cardiomyopathy, dilated (p.R814W - 15671429) |
SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) | ||||
SCN9A | 832-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F816Y - 19716085) |
SCN9A | 834-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
SCN9A | 840-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094) |
SCN9A | 842-N | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R902W - 16754686) |
SCN9A | 844-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
SCN9A | 848-I | Other Disease Phenotype - Erythermalgia, primary (p.I848T - 14985375) | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) |
SCN9A | 849-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G833R - 19862833) |
SCN9A | 851-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S835L - 15277732) |
SCN9A | 855-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L839P - 16426410) |
SCN9A | 856-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G840R - 19862833) |
SCN9A | 858-L | Other Disease Phenotype - Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) | 9 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) |
SCN9A | 859-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T843A - 16244680) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) | ||||
SCN9A | 861-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V896L - 18930999) |
SCN9A | 863-A | Other Disease Phenotype - Erythermalgia, primary (p.A863P - 17135418) | 9 | ||
SCN9A | 864-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.I848F - 19716085) | ||||
SCN9A | 866-V | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V892I - 15048894) |
SCN9A | 867-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F902C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.F851L - 11901046/20129283) | ||||
SCN9A | 872-V | Other Disease Phenotype - Erythermalgia, primary (p.V872G - 19162012) | 9 | ||
SCN9A | 873-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
SCN9A | 879-K | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
SCN9A | 883-E | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.E867Q - 20129283) |
SCN9A | 892-C | None | 4 | SCN1A AB093548 | Dravet syndrome (p.C927F - 18930999) |
SCN9A | 896-R | Other Disease Phenotype - Congenital indifference to pain (p.R896Q - 20635406) | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R931C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.R878C - HGOL, p.R878H - 20129283) | ||||
SCN9A | 899-M | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421) |
SCN9A | 900-N | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) |
SCN9A | 904-H | None | 9 | SCN1A AB093548 | Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708) |
SCN5A NM_198056 | Brugada syndrome (p.H886P - 20129283) | ||||
CACNA1H NM_021098 | Autism spectrum disorder ? (p.W962C - 16754686) | ||||
SCN9A | 907-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L942P - 17054684) |
SCN9A | 908-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I943N - 18930999) |
SCN9A | 909-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) |
SCN9A | 910-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F945L - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.F892I - 11901046) | ||||
SCN9A | 911-R | None | 9 | SCN1A AB093548 | Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) |
SCN5A NM_198056 | Brugada syndrome (p.R893C - 20129283, p.R893H - 20129283) | ||||
SCN9A | 914-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.C896S - 11901046) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) | ||||
SCN9A | 915-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G950E - 17347258) |
SCN9A | 917-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W952G - 18554359) |
SCN9A | 919-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E901K - 20129283) |
SCN9A | 922-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W957L - 17561957) |
SCN9A | 924-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C959R - 12754708) |
SCN9A | 925-M | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M960V - 12566275) |
SCN9A | 928-A | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.S910L - 11901046) |
SCN9A | 932-M | Benign - (p.M932L - rs12478318) | 9 | ||
SCN9A | 933-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C915R - 20129283) |
SCN9A | 935-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L917R - 20129283) |
SCN9A | 936-V | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
SCN9A | 938-M | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999) |
SCN9A | 941-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) |
SCN9A | 944-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G979R - 12566275) |
SCN9A | 945-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N927S - 16764707) |
SCN9A | 946-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L928P - 20129283) |
SCN9A | 947-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V982L - 19763161) |
SCN9A | 948-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V983A - 12566275) |
SCN9A | 950-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N985I - 12566275) |
SCN9A | 951-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211) |
SCN9A | 952-F | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
SCN9A | 953-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L935P - 20129283) |
SCN9A | 954-A | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
SCN9A | 955-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L990F - 18076640) |
CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) | ||||
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | ||||
SCN9A | 957-L | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
SCN9A | 958-S | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
SCN9A | 959-S | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
SCN9A | 963-D | None | 5 | SCN1A AB093548 | Dravet syndrome (p.D998G - 18930999) |
SCN9A | 975-N | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.N1001K - 16417554) |
SCN9A | 976-N | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1011I - 12566275) |
SCN9A | 977-L | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1003I - 15048894) |
SCN9A | 978-Q | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q960K - 19716085) |
SCN9A | 983-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R965C - 11901046, p.R965H - 16764707) Long QT syndrome (p.R965L - 19716085) |
SCN9A | 989-N | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R971C - 15840476) |
SCN9A | 991-V | Benign - (p.V991L - rs4369876) | 3 | ||
SCN9A | 993-Q | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R975W - 19322600) |
SCN9A | 996-R | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.R996C - 17145499, rs121908910) | 3 | ||
SCN9A | 999-I | None | 3 | SCN1A AB093548 | Autism ? (p.I1034T - 12610651) |
SCN5A NM_198056 | Long QT syndrome (p.C981F - 19716085) | ||||
SCN9A | 1000-L | None | 3 | SCN5A NM_198056 | Sudden adult death syndrome (p.C982R - 16712702) |
SCN9A | 1003-F | None | 2 | SCN1A AB093548 | Autism ? (p.F1038L - 12610651) |
SCN9A | 1006-K | Probably Benign - (p.K1006N - rs147623238) | 1 | ||
SCN9A | 1015-Q | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A997T - 20129283) Sudden infant death syndrome (p.A997S - 11710892) |
SCN9A | 1016-A | None | 2 | CACNA1A X99897 | Episodic ataxia 2 (p.M798T - 20129625) |
SCN9A | 1023-K | None | 2 | SCN5A NM_198056 | Cardiac conduction disease (p.P1008S - 20025708) |
SCN9A | 1030-H | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
SCN9A | 1034-E | None | 2 | SCN1A AB093548 | Dravet syndrome (p.E1068K - 18930999) |
SCN9A | 1039-H | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.R1023H - 16344400) |
SCN9A | 1054-S | None | 1 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A1089S - 17397049) |
SCN9A | 1060-M | None | 2 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (S/T - LDGA) |
SCN9A | 1076-V | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
SCN9A | 1084-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E1053K - 11901046) |
SCN9A | 1086-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.D1055G - 20129283) |
SCN9A | 1090-M | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.E1170K - 17696120) |
SCN9A | 1099-S | Probably Benign - (p.S1099L - rs145258166) | 2 | ||
SCN9A | 1100-D | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.T1069M - 15840476) |
SCN9A | 1108-L | None | 2 | SCN5A NM_198056 | Atrial fibrillation ? (p.T1131I - 18378609) |
SCN9A | 1110-R | Benign - (p.R1110Q - rs74401238) | 2 | ||
SCN9A | 1112-S | Probably Benign - (p.S1112N - rs141040985) | 3 | ||
SCN9A | 1115-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E1138A - 19862833) |
SCN9A | 1117-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.S1140T - 20129283) |
SCN9A | 1123-L | Other Disease Phenotype - Dravet syndrome ? (p.L1123F - 19763161) | 2 | ||
SCN9A | 1137-S | None | 1 | SCN1A AB093548 | Hemiplegic migraine (p.T1174S - 18021921) |
SCN9A | 1142-A | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.D1166N - 19716085) |
SCN9A | 1147-G | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.Q1264H - 17696120) |
SCN9A | 1150-W | Benign - (p.W1150R - rs6746030) | 3 | ||
SCN9A | 1151-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1175C - HGOL) |
SCN9A | 1156-Q | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.A1180V - 19808398) |
SCN9A | 1158-N | Probably Benign - (p.N1158T - rs151241025) | 4 | ||
SCN9A | 1159-I | Probably Benign - (p.I1159T - rs73019664) | 4 | ||
SCN9A | 1160-E | Other Disease Phenotype - Dravet syndrome ? (p.E1160Q - 19763161) | 4 | ||
SCN9A | 1162-G | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.A1186T - 19996378) |
SCN9A | 1167-W | None | 6 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445) |
SCN9A | 1169-N | None | 8 | SCN5A NM_198056 | Sudden unexplained nocturnal death syndrome (p.R1193Q - 11823453) |
SCN9A | 1170-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1207P - 18413471) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) | ||||
SCN9A | 1171-R | None | 9 | SCN5A NM_198056 | Ventricular tachycardia (p.R1195H - 19632629) |
SCN9A | 1173-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1210K - 19350499) |
SCN9A | 1175-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1199S - 19716085) |
SCN9A | 1182-W | None | 9 | SCN5A NM_198056 | Sudden cardiac death (p.W1206C - 18071069) |
CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) | ||||
SCN9A | 1184-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.E1211K - 19786696) |
SCN9A | 1194-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) |
SCN9A | 1195-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1219N - 20129283) |
SCN9A | 1196-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1233R - 12821740) |
SCN9A | 1201-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1238D - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.E1225K - 12106943) | ||||
SCN9A | 1202-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) |
SCN9A | 1204-Y | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.Y1228H - 20129283) |
SCN9A | 1207-R | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.E1231K - 15840476) |
SCN9A | 1208-K | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1245Q - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.R1232Q - 20129283) Ventricular fibrillation, idiopathic ? (p.R1232W - 9521325) | ||||
SCN9A | 1212-K | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) |
SCN5A NM_198056 | Brugada syndrome (p.K1236N - 11901046) Brugada syndrome ? (p.K1236R - 21126620) | ||||
SCN9A | 1213-I | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081) |
SCN9A | 1215-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1239P - 20129283) |
SCN9A | 1216-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1240Q - 11901046) |
SCN9A | 1217-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1241S - 19862833) |
SCN9A | 1218-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1255D - 18930999) |
SCN9A | 1219-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1243N - 20129283) |
SCN9A | 1223-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1260P - 20431604) |
SCN9A | 1225-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1249D - 20129283) |
SCN9A | 1226-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1263L - 12566275) |
SCN5A NM_198056 | Long QT syndrome, drug-associated (p.F1250L - 11997281) | ||||
SCN9A | 1228-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1265P - 12083760) |
SCN9A | 1229-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1253G - 20129283) |
SCN9A | 1233-K | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608) |
SCN9A | 1237-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) |
SCN9A | 1238-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1275V - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1262S - 15338453) | ||||
SCN9A | 1239-Y | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
SCN9A | 1245-N | Probably Benign - (p.N1245S - rs141268327) | 9 | ||
SCN9A | 1247-W | None | 9 | SCN1A AB093548 | Dravet syndrome (p.W1284S - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.W1271C - 20129283) | ||||
SCN9A | 1250-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1287P - 20431604) |
SCN9A | 1251-D | None | 9 | SCN5A NM_198056 | Atrial standstill (p.D1275N - 12522116) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) | ||||
SCN9A | 1254-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1278N - 19841300) |
SCN9A | 1255-V | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
SCN9A | 1257-V | None | 9 | SCN5A NM_198056 | Brugada syndrome ? (p.V1281F - 21126620) |
SCN9A | 1259-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1283M - 19716085) |
SCN9A | 1264-A | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.A1288G - 20129283) |
SCN9A | 1267-L | Other Disease Phenotype - Dravet syndrome ? (p.L1267V - 19763161) | 7 | ||
SCN9A | 1268-G | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
SCN9A | 1269-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.F1293S - 11901046) |
SCN9A | 1271-D | None | 8 | SCN1A AB093548 | Febrile seizures (p.E1308D - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.E1295K - 11304498) | ||||
SCN9A | 1272-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752) |
SCN9A | 1274-P | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.P1298L - 14523039) |
SCN9A | 1279-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R1316S - 18930999) |
SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) | ||||
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | ||||
SCN9A | 1280-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1304M - 10508990) |
SCN9A | 1282-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) | ||||
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | ||||
SCN9A | 1284-L | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.L1308F - 18599870) |
SCN9A | 1285-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1312T - 19783390) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) | ||||
SCN9A | 1287-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1311P - 20129283) |
SCN9A | 1289-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318) |
SCN9A | 1291-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S1328P - 18930999) |
SCN9A | 1292-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1319Q - 15048894) |
SCN9A | 1295-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1319V - 12106943) |
SCN9A | 1298-V | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1335M - 18413471) |
SCN9A | 1299-V | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.V1299F - 17145499, rs121908913) | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1323G - 20129283) |
SCN9A | 1300-V | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
SCN9A | 1301-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1325S - 8541846) |
SCN9A | 1302-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1326S - 19716085) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) | ||||
SCN9A | 1303-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1330F - 12243921) |
SCN9A | 1305-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G1329S - 21216356) |
SCN9A | 1306-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1330P - 11535573, p.A1330T - 12566525) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) | ||||
SCN9A | 1308-P | Other Disease Phenotype - Erythermalgia, primary (p.P1308L - 20429905) | 9 | SCN5A NM_198056 | Long QT syndrome (p.P1332L - 14676229) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) | ||||
SCN9A | 1309-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1333Y - 16922724) |
SCN9A | 1310-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1334V - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) | ||||
SCN9A | 1314-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1338V - 19716085) |
SCN9A | 1316-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444) |
SCN5A NM_198056 | Brugada syndrome (p.V1340I - 20129283) | ||||
SCN9A | 1317-C | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
SCN9A | 1318-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1355P - 14738421) |
SCN9A | 1320-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1344L - 20129283, p.F1344S - 16616735) |
SCN9A | 1321-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1358S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.W1345C - 20339501) | ||||
SCN9A | 1322-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1346I - 20129283, p.L1346P - 20129283) |
SCN9A | 1326-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1350T - 12845244) |
SCN9A | 1327-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M1351R - 20129283) |
SCN9A | 1328-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
SCN9A | 1329-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202) |
SCN5A NM_198056 | Brugada syndrome (p.V1353M - 20129283) | ||||
SCN9A | 1330-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N1367K - 18930999) |
SCN9A | 1334-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1358W - 20129283) |
SCN9A | 1335-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1359N - 20129283) |
SCN9A | 1336-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1360C - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) | ||||
SCN9A | 1339-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1363Y - 16764707) |
SCN9A | 1343-T | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.D1463N - 12891677) |
SCN9A | 1353-V | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1390M - 12083760) |
SCN9A | 1354-P | None | 5 | SCN1A AB093548 | Dravet syndrome (p.N1391S - 18930999) |
SCN9A | 1355-N | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.N1380K - HGOL) |
SCN9A | 1356-R | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.H1393P - 17129991) |
SCN9A | 1357-S | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.S1382I - 12106943) |
SCN9A | 1358-E | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1395Y - 21114141) |
SCN9A | 1359-C | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1396G - 17347258) |
SCN9A | 1367-Q | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1404A - 17129991) |
SCN9A | 1369-V | Probably Benign - (p.V1369A - rs113161460) | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
SCN9A | 1377-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1414Y - 17561957) |
SCN9A | 1379-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1416G - 18930999) |
SCN9A | 1381-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1405L - 12106943, p.V1405M - 20129283) |
SCN9A | 1382-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1406R - 12106943, p.G1406E - 20129283) |
SCN9A | 1384-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1408R - 11748104) |
SCN9A | 1385-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1422C - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.Y1409C - 20129283) | ||||
SCN9A | 1388-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1412F - 20129283) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) | ||||
SCN9A | 1389-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1426R - 17054684) |
SCN9A | 1391-V | None | 9 | SCN1A AB093548 | Febrile seizures (p.V1428A - 11524484) |
CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) | ||||
SCN9A | 1394-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.F1431I - 18930999) |
SCN9A | 1395-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1419E - 20129283) |
CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.E1115K - 20817017) | ||||
SCN9A | 1396-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.G1420R - 20129283) Brugada syndrome ? (p.G1420V - 21126620) | ||||
SCN9A | 1397-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1434R - 12083760) |
SCN9A | 1400-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1437M - 18930999) |
SCN9A | 1403-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1427S - 20129283) |
SCN9A | 1404-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1441P - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A1428V - 20129283) | ||||
SCN9A | 1408-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1432G - 10727653) Long QT syndrome (p.R1432S - 19716085) |
SCN9A | 1409-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1433V - 20129283) |
SCN9A | 1413-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760) |
SCN9A | 1414-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1451L - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.P1438L - 18156160) | ||||
SCN9A | 1417-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1441Q - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) | ||||
SCN9A | 1424-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1461I - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I1448L - 20129283, p.I1448T - 20129283) | ||||
SCN9A | 1425-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1462C - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.Y1449C - 20129283) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) | ||||
SCN9A | 1426-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1463S - 12821740) |
SCN9A | 1427-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1451D - 20129283) |
SCN9A | 1428-V | Probably Benign - (p.V1428I - rs149346064) | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
SCN9A | 1433-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1470W - 17561957) |
SCN9A | 1434-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1458Y - 15840476) |
SCN9A | 1438-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1475S - 17054684) |
SCN9A | 1439-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1463Y - 20129283) |
SCN9A | 1441-F | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
SCN9A | 1443-G | None | 9 | SCN1A AB093548 | Myoclonic-astatic epilepsy (p.G1480V - 17347258) |
SCN9A | 1444-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1468F - 20129283) |
SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) | ||||
SCN9A | 1446-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.I1473M - 19786696) |
SCN9A | 1447-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1484G - 18930999) |
SCN9A | 1448-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1472S - 19716085) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) | ||||
SCN9A | 1449-F | Other Disease Phenotype - Erythermalgia, primary (p.F1449V - 15958509) | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1473C - 18060054, p.F1473S - 20339117) |
SCN9A | 1452-Q | None | 7 | SCN1A AB093548 | Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696) |
SCN9A | 1454-K | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
SCN9A | 1457-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G1481E - 15840476) |
SCN4A NM_000334 | Myotonia (p.G1306A - 8308722, p.G1306E - 8308722) Paramyotonia congenita (p.G1306V - 1310898) | ||||
SCN9A | 1461-I | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.I1461T - 17145499, rs121908914) | 5 | ||
SCN9A | 1462-F | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.F1462V - 17145499) | 6 | SCN1A AB093548 | Hemiplegic migraine 2 (p.F1499L - 19332696) |
SCN5A NM_198056 | Sudden adult death syndrome (p.F1486L - 17210839) | ||||
SCN9A | 1463-M | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.M1487L - 19716085) |
SCN9A | 1464-T | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.T1464I - 17145499, rs121908915) | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1488R - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) | ||||
SCN9A | 1465-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1489D - 19716085) |
SCN9A | 1466-E | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1503K - 19783390) |
SCN9A | 1469-K | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.K1493R - 19167345) |
SCN9A | 1470-Y | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.Y1494N - 18341814) |
SCN9A | 1471-Y | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.Y1495S - 19716085) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1086C - 10590402) Malignant hyperthermia (p.R1086H - 9199552, p.R1086S - 20431982) | ||||
SCN9A | 1473-A | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
SCN9A | 1474-M | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.M1498T - 16414944, p.M1498V - 19716085) |
SCN9A | 1477-L | None | 2 | SCN1A AB093548 | Dravet syndrome (p.L1514S - 20522430) |
SCN5A NM_198056 | Long QT syndrome (p.L1501V - 10973849) | ||||
SCN9A | 1478-G | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.G1502S - 12106943) |
SCN9A | 1481-K | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.K1505N - 19716085) |
SCN9A | 1488-R | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.R1512W - 10690282) |
SCN9A | 1497-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1521K - 20129283) |
SCN9A | 1501-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1538I - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.V1525M - 20129283) | ||||
SCN9A | 1502-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1539P - 18076640) |
SCN9A | 1506-F | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.F1543S - 17347258) |
SCN9A | 1507-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1544A - 18930999) |
SCN9A | 1508-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1545V - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.V1532I - 19716085) | ||||
SCN9A | 1511-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
SCN9A | 1514-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
SCN9A | 1521-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
SCN9A | 1524-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E1561K - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.E1548K - 20129283) | ||||
SCN9A | 1529-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1553R - 21321465) |
SCN9A | 1536-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1563V - 12243921) |
SCN5A NM_198056 | Long QT syndrome (p.L1560F - 19716085) | ||||
SCN9A | 1538-W | Other Disease Phenotype - Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) | 9 | SCN1A AB093548 | Rasmussen encephalitis (p.R1575C - 18031552) |
SCN9A | 1542-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1579E - 18930999) |
SCN9A | 1544-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
SCN9A | 1547-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1571C - 20129283) |
SCN9A | 1549-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1586E - 18930999) |
SCN9A | 1550-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1574K - 19808440) |
SCN9A | 1551-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1588R - 17561957) |
SCN9A | 1558-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1582P - 19843921) |
SCN9A | 1559-R | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.R1583C - 20129283, p.R1583H - 20129283) | ||||
SCN9A | 1569-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.I1596S - 17386050) |
SCN5A NM_198056 | Long QT syndrome (p.I1593M - 19716085) | ||||
SCN9A | 1570-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1594S - 19716085) |
SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) | ||||
SCN9A | 1571-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1608Y - 17561957) |
SCN5A NM_198056 | Atrioventricular conduction block (p.D1595N - 11804990) Cardiomyopathy, dilated (p.D1595H - 15671429) | ||||
SCN9A | 1572-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1596I - 19716085) |
SCN9A | 1573-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1597M - 19862833) |
SCN9A | 1574-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1611F - 12566275) |
SCN9A | 1575-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1612I - 18930999) |
SCN9A | 1578-S | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
SCN9A | 1579-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) |
SCN9A | 1580-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1604M - 20129283) |
SCN9A | 1584-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
SCN9A | 1585-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1609W - 16922724) |
SCN9A | 1587-L | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
SCN9A | 1589-E | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.Q1613L - 20129283) |
SCN9A | 1593-V | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1630M - 17561957) |
SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) | ||||
SCN9A | 1595-P | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1632S - 12566275) |
SCN9A | 1596-T | None | 7 | SCN5A NM_198056 | Cardiac conduction disease (p.T1620K - 18065446) Ventricular fibrillation, idiopathic (p.T1620M - 9521325) |
SCN9A | 1599-R | None | 6 | SCN1A AB093548 | Lennox-Gastaut syndrome (p.R1636Q - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.R1623Q - 9506831, p.R1623L - 10973849) | ||||
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | ||||
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | ||||
SCN9A | 1600-V | None | 6 | SCN1A AB093548 | Hepatic coma (p.V1637E - 20392657) |
SCN9A | 1602-R | None | 6 | SCN1A AB093548 | Dravet syndrome (p.R1639G - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.R1626H - 18752142, p.R1626P - 10961955) | ||||
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) | ||||
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | ||||
SCN9A | 1605-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.R1629Q - 20129283, p.R1629G - 19843921) |
SCN9A | 1607-G | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.G1607R - 21079636) | 7 | SCN5A NM_198056 | Long QT syndrome, malignant perinatal variant (p.G1631D - 19808432) |
SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) | ||||
SCN9A | 1608-R | Probably Benign - (p.R1608Q - rs142201175) | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1645Q - 17347258) |
SCN5A NM_198056 | Nodal rhythm (p.R1632H - 14523039) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) | ||||
SCN9A | 1609-I | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
SCN9A | 1611-R | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760) |
CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) | ||||
SCN9A | 1612-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine (p.L1649Q - 17397047) |
SCN9A | 1618-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1642E - 20129283) |
SCN9A | 1619-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444) |
SCN9A | 1620-R | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992) |
SCN5A NM_198056 | Brugada syndrome (p.R1644C - 16344400) Long QT syndrome (p.R1644H - 8541846) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) | ||||
SCN9A | 1621-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957) |
SCN5A NM_198056 | Long QT syndrome (p.T1645M - 10508990) | ||||
SCN9A | 1624-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1661S - 12754708) |
SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) | ||||
SCN9A | 1625-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1649V - 17081365) |
SCN9A | 1626-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1650F - 19716085) |
SCN9A | 1627-M | Other Disease Phenotype - Paroxysmal extreme pain disorder (p.M1627K - 17145499) | 9 | SCN1A AB093548 | Dravet syndrome (p.M1664K - 18930999) |
SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) | ||||
SCN9A | 1628-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1652R - 17698727, p.M1652T - 19716085) |
SCN9A | 1631-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1668A - 12821740) |
SCN9A | 1632-A | Other Disease Phenotype - Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) | 9 | SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) |
SCN9A | 1636-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1660V - 16414944) |
CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) | ||||
SCN9A | 1637-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1674R - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.G1661R - 20129283/20129283) | ||||
SCN9A | 1638-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1675R - 18930999) |
SCN9A | 1640-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1677F - 18930999) |
SCN9A | 1643-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1667I - 11274952) |
SCN9A | 1646-I | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
SCN9A | 1648-A | None | 9 | SCN1A AB093548 | Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275) |
SCN5A NM_198056 | Brugada syndrome (p.S1672Y - 20129283) | ||||
SCN9A | 1650-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1687S - 17561957) |
CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) | ||||
SCN9A | 1655-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1692S - 14738421) |
SCN9A | 1656-A | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.A1680T - 16712702) |
SCN9A | 1657-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1694C - 14738421) |
SCN9A | 1661-E | None | 6 | CACNA1A X99897 | Hemiplgic migraine ? (p.D1726N - 20837964) |
SCN9A | 1667-M | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
SCN9A | 1670-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1707V - 17347258) |
SCN9A | 1672-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1709I - 12566275) |
SCN9A | 1674-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1698T - 20129283) |
SCN9A | 1676-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1713N - 16122630) |
SCN9A | 1677-M | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684) |
SCN9A | 1679-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1716R - 17561957) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) | ||||
SCN9A | 1681-F | None | 9 | SCN5A NM_198056 | Sudden infant death syndrome (p.F1705S - 18596570) |
SCN9A | 1682-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q1706H - 21321465) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) | ||||
SCN9A | 1684-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1721R - 17347258) |
SCN9A | 1685-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T1709R - 20129283, p.T1709M - 17697823) |
SCN9A | 1686-S | None | 9 | SCN5A NM_198056 | Ventricular fibrillation, idiopathic (p.S1710L - 10940383) |
SCN9A | 1687-A | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
SCN9A | 1688-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1725C - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1712S - 20129283) | ||||
SCN9A | 1689-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1726R - 17347258) |
SCN9A | 1690-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1714G - 16266370) |
SCN9A | 1698-N | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.N1722D - 20031634) |
SCN9A | 1699-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1723N - 19716085) |
SCN9A | 1701-P | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P1725L - 19862833) |
SCN9A | 1704-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1728R - 20129283, p.C1728W - 20129283) |
SCN9A | 1705-D | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566) |
SCN9A | 1712-G | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1749E - 12754708) |
SCN9A | 1716-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1739W - 19716085) |
SCN9A | 1717-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G1740R - 11901046) |
SCN9A | 1719-C | Other Disease Phenotype - Congenital indifference to pain (p.C1719R - 20692858) | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1756G - 19563458) |
SCN9A | 1720-G | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G1743E - 12106943) Brugada syndrome ? (p.G1743R - 12639704) |
SCN9A | 1721-N | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
SCN9A | 1723-S | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.A1746T - 20541041) |
SCN9A | 1724-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1747M - 20541041) |
SCN9A | 1725-G | None | 9 | SCN1A AB093548 | Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684) |
SCN9A | 1728-Y | None | 9 | SCN1A AB093548 | Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) |
SCN9A | 1732-Y | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) |
SCN9A | 1734-I | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) |
SCN9A | 1736-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1773F - 17054684) |
SCN9A | 1738-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1761H - 19716085, p.L1761F - 19716085) |
SCN9A | 1740-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1763M - 15485686) |
SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) | ||||
SCN9A | 1741-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1764F - 19808440) |
SCN9A | 1743-M | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M1780T - 12821740) |
SCN5A NM_198056 | Long QT syndrome (p.M1766L - 12123767) | ||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | ||||
SCN9A | 1744-Y | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421) |
SCN5A NM_198056 | Long QT syndrome (p.Y1767C - 16414944) | ||||
SCN9A | 1745-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.I1768V - 12566525) | ||||
SCN9A | 1746-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) |
SCN9A | 1748-I | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
SCN9A | 1749-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1772V - 19996378) |
SCN9A | 1750-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1787K - 17561957) |
SCN9A | 1751-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1774S - 16038262) Long QT syndrome (p.N1774D - 19996378) |
SCN9A | 1754-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1777M - 11463728) |
SCN9A | 1756-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1779M - 15840476) |
SCN9A | 1758-E | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615) |
SCN9A | 1761-E | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.E1784K - 10377081) |
SCN9A | 1763-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1786Q - 16712702) |
SCN9A | 1764-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.S1787N - 10973849) |
SCN9A | 1766-D | None | 8 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.A1874V - 16754686) |
SCN9A | 1767-D | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.D1790G - 9686753) |
SCN9A | 1771-F | None | 8 | SCN1A AB093548 | Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275) |
SCN9A | 1772-Y | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.Y1795H - 11410597) Long QT syndrome (p.Y1795C - 11410597) |
SCN9A | 1775-W | None | 8 | SCN1A AB093548 | Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275) |
SCN9A | 1784-Q | None | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
SCN9A | 1785-F | Probably Benign - (p.F1785S - rs113490809) | 9 | ||
SCN9A | 1794-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1831S - 12566275) |
SCN9A | 1795-A | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1486P - 19578023) |
SCN9A | 1796-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1819N - 16922724) |
SCN9A | 1798-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1835F - 18930999) |
SCN9A | 1801-P | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.P1824A - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) | ||||
SCN9A | 1802-L | None | 8 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L1825P - 12208804) |
SCN9A | 1803-L | None | 7 | SCN5A NM_198056 | Atrial fibrillation ? (p.R1826C - 18378609) Sudden infant death syndrome (p.R1826H - 11710892) |
SCN9A | 1807-P | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1500R - 12111638) |
SCN9A | 1809-K | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.Q1832E - HGOL) |
SCN9A | 1812-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1508P - 12111638) |
SCN9A | 1815-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1852T - 12919402) |
SCN9A | 1816-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1839G - 19716085) |
SCN9A | 1819-M | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640) |
SCN9A | 1820-V | None | 6 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.V1857L - 15715999) |
SCN9A | 1827-C | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.C1850S - 18252757) |
SCN9A | 1829-D | None | 7 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1866Y - 15525788) |
SCN9A | 1830-I | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1867T - 18251839) |
SCN9A | 1838-V | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.V1861I - 20129283) |
SCN9A | 1844-E | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1881D - 14504318) |
SCN9A | 1849-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K1872N - 20129283) |
SCN9A | 1852-M | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.M1875T - 18929244) |
SCN9A | 1853-E | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
SCN9A | 1856-F | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
SCN9A | 1872-T | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1909I - 12083760) |
SCN9A | 1874-K | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R1897W - 19716085) |
SCN9A | 1875-R | None | 4 | SCN2A NM_021007 | Autism ? (p.R1902C - 12610651) |
SCN9A | 1878-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1901Q - 19716085) |
SCN9A | 1881-S | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.S1904L - 18708744) |
SCN9A | 1885-I | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1922T - 17347258) |
SCN9A | 1886-Q | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.Q1909R - 15840476) |
SCN9A | 1890-R | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) |
SCN5A NM_198056 | Long QT syndrome (p.R1913H - 16414944) | ||||
SCN9A | 1891-R | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1928G - 18413471) |
SCN9A | 1893-R | Benign - (p.R1893H - rs79805025) | 8 | ||
SCN9A | 1901-I | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A1924T - 10690282) |
SCN9A | 1908-D | Benign - (p.D1908G - rs3750904) | 2 | ||
SCN9A | 1912-D | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G1935S - 16267250) |
SCN9A | 1916-L | Probably Benign - (p.L1916F - rs111558968) | 1 | ||
SCN9A | 1917-N | None | 1 | SCN1A AB093548 | Autism ? (p.I1955T - 12610651) |
SCN9A | 1919-K | None | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1957G - 14504318) |
SCN9A | 1923-F | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.A1949S - 15840476) |
SCN9A | 1925-N | None | 2 | SCN5A NM_198056 | Atrial fibrillation (p.V1951M - 18378609) Brugada syndrome (p.V1951L - 11901046) |
SCN9A | 1934-K | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.S1964F - 21126620) |
SCN9A | 1938-T | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.I1968S - 16344400) |
SCN9A | 1947-Y | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.Y1977N - 19716085) |
SCN9A | 1957-K | None | 1 | SCN5A NM_198056 | Atrial fibrillation (p.N1987K - 18088563) |
SCN9A | 1961-D | None | 1 | CACNA1A X99897 | Episodic ataxia 2 ? (p.R2091Q - 20663518) |
SCN9A | 1969-G | None | 3 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.D2130N - 20817017) |
SCN9A | 1973-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R2012C - 19716085) |
CACNA1G (paralogue of LQTS gene SCN5A) | View alignment | ||||
Gene | Residue | Known Variants in CACNA1G | Consensus | Paralogue | Disease-causing Variants in Paralogues |
CACNA1G | 4-E | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.M1I - 20129283) |
CACNA1G | 5-E | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.A2T - 20609320) |
CACNA1G | 12-E | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G9V - 16922724) |
CACNA1G | 14-G | None | 2 | SCN9A NM_002977 | Erythermalgia, primary (p.Q10R - 19369487) |
CACNA1G | 19-F | None | 2 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) |
SCN5A NM_198056 | Brugada syndrome (p.R27H - 11901046) | ||||
CACNA1G | 20-M | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G35S - 11960580) |
CACNA1G | 26-S | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.A39V - 17224476) |
CACNA1G | 30-G | Probably Benign - (p.G30A - rs607458) | 2 | SCN5A NM_198056 | Long QT syndrome (p.P52S - 19716085) |
CACNA1G | 31-R | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.R53Q - 19716085) |
CACNA1G | 32-P | Probably Benign - (p.P32R - rs113849507) | 2 | ||
CACNA1G | 37-A | None | 3 | SCN1A AB093548 | Dravet syndrome (p.G58V - 18930999) |
CACNA1G | 40-D | None | 3 | SCN1A AB093548 | Dravet syndrome (p.L61F - 18930999) |
CACNA1G | 44-A | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D84N - 20129283) |
CACNA1G | 45-D | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V95I - 17081365) |
CACNA1G | 54-P | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.R104Q - 11960580, p.R104W - 20129283) Long QT syndrome (p.R104G - 19716085) | ||||
CACNA1G | 56-L | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S103G - 12566275) |
CACNA1G | 59-V | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.N109K - 19843921) |
CACNA1G | 63-Y | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V113I - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) | ||||
CACNA1G | 65-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T112I - 12566275) |
SCN5A NM_198056 | Long QT syndrome (p.S115G - 19716085) | ||||
CACNA1G | 71-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R118S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R121Q - 20129283, p.R121W - 19606473) | ||||
CACNA1G | 75-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V125L - 15840476) |
CACNA1G | 76-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K126E - 12051963) |
CACNA1G | 77-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I124N - 18930999) |
CACNA1G | 86-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L136P - 17697823) |
CACNA1G | 88-M | None | 9 | SCN5A NM_198056 | Atrial fibrillation (p.M138I - 18378609) |
CACNA1G | 91-I | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.I136V - 17294067) |
SCN4A NM_000334 | Myotonia (p.I141V - 19015483) | ||||
CACNA1G | 96-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V146M - 20129283) |
CACNA1G | 98-L | None | 9 | SCN1A AB093548 | Febrile seizures (p.M145T - 16326807) |
CACNA1G | 111-S | None | 5 | SCN9A NM_002977 | Febrile seizures (p.P149Q - 19763161) |
CACNA1G | 120-F | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.E161Q - 20129283, p.E161K - 12106943) |
CACNA1G | 124-I | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T162P - 17054684) |
CACNA1G | 125-F | None | 7 | SCN1A AB093548 | Dravet syndrome (p.G163E - 18076640) |
CACNA1G | 131-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
CACNA1G | 134-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258) |
CACNA1G | 135-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K175N - 20129283) |
CACNA1G | 136-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I176M - 19996378) |
CACNA1G | 138-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A178G - 20129283) | ||||
CACNA1G | 140-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) | ||||
CACNA1G | 142-F | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.F161L - 12891677) |
CACNA1G | 144-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A185V - 20129283) Long QT syndrome (p.A185T - 15176425) |
CACNA1G | 146-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T187I - 16325048) |
CACNA1G | 149-G | None | 9 | SCN2A NM_021007 | Febrile and afebrile seizures (p.R188W - 11371648) |
SCN5A NM_198056 | Long QT syndrome (p.R190Q - 17905336, p.R190G - 15176425) | ||||
CACNA1G | 150-D | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D188V - 11254444) |
CACNA1G | 152-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W190R - 14738421) |
CACNA1G | 153-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) |
CACNA1G | 156-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684) |
CACNA1G | 161-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T199R - 17347258) |
CACNA1G | 163-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A204V - 20129283) |
CACNA1G | 171-L | None | 6 | SCN5A NM_198056 | Atrial standstill ? (p.L212P - 16188595) Brugada syndrome (p.L212Q - 20129283) |
CACNA1G | 176-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V212A - 18076640) |
CACNA1G | 177-S | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.S211P - 20123784) |
SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.S216L - 19412328) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) | ||||
CACNA1G | 180-R | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
CACNA1G | 181-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T217K - 17054684) |
SCN5A NM_198056 | Nodal rhythm (p.T220I - 14523039) | ||||
CACNA1G | 182-V | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.F216S - 15955112) |
SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) | ||||
CACNA1G | 183-R | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.R222Q - 19412328) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) | ||||
CACNA1G | 184-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V223L - 20129283) |
CACNA1G | 186-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R223Q - 15048894) |
SCN5A NM_198056 | Cardiac conduction disease (p.R225W - 12574143) Long QT syndrome (p.R225Q - 16922724) | ||||
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | ||||
CACNA1G | 187-P | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A223E - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.A226V - 11901046) | ||||
CACNA1G | 189-R | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
CACNA1G | 190-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T226M - 17347258) |
CACNA1G | 191-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I227S - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I230V - 11901046) Cardiac conduction disease (p.I230T - 20564468) | ||||
CACNA1G | 193-R | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.V232I - 18599870) |
CACNA1H NM_021098 | Autism spectrum disorder ? (p.R212R - 16754686) | ||||
CACNA1G | 194-V | None | 9 | SCN9A NM_002977 | Dravet syndrome ? (p.I228M - 19763161) |
CACNA1G | 196-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G232S - 18930999) |
CACNA1G | 200-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.I234T - 20385509) |
SCN5A NM_198056 | Long QT syndrome (p.I239V - 15176425) | ||||
CACNA1G | 201-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V240M - 19716085) |
CACNA1G | 203-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | ||||
CACNA1G | 204-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) |
CACNA1G | 206-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q245K - 15840476) |
CACNA1G | 207-T | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.S241T - 16216943) |
SCN1A AB093548 | Dravet syndrome (p.S243Y - 18930999) | ||||
CACNA1G | 208-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V247L - 19716085) |
CACNA1G | 211-L | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
CACNA1G | 215-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.M252V - 20371507) |
CACNA1G | 216-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I252N - 15087100) |
CACNA1G | 223-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S259R - 20431604) |
CACNA1G | 224-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V261M - 20371507) |
CACNA1G | 226-G | None | 9 | SCN2A NM_021007 | Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) |
CACNA1G | 227-I | None | 9 | SCN1A AB093548 | Hemiplegic migraine and epilepsy (p.L263V - 19220312) |
CACNA1G | 229-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G265W - 12566275) |
CACNA1G | 231-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q270K - 20129283) |
CACNA1G | 233-W | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
CACNA1G | 235-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
CACNA1G | 236-L | None | 9 | SCN5A NM_198056 | Long QT syndrome & atrial fibrillation (p.N275K - 18452873) |
CACNA1G | 237-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L276Q - 17697823) |
CACNA1G | 238-R | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
CACNA1G | 239-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.H278D - 20129283) |
CACNA1G | 241-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) |
CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) | ||||
CACNA1G | 243-L | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R282C - 20129283, p.R282H - 11901046) |
CACNA1G | 244-P | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) |
CACNA1G | 262-E | None | 1 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.E282K - 12891677) |
CACNA1G | 265-D | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G289S - 19716085) |
CACNA1G | 286-P | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V294M - 11901046) |
CACNA1G | 290-G | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.G298S - 11804990) |
CACNA1G | 297-P | None | 3 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P314S - 17156077) |
CACNA1G | 299-G | None | 3 | SCN2A NM_021007 | Neonatal-infantile seizures (p.D322N - 19783390) |
CACNA1G | 301-D | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R322I - 17561957) |
CACNA1G | 304-A | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.L315P - 20129283) |
CACNA1G | 305-Y | None | 6 | SCN2A NM_021007 | Neonatal-infantile seizures (p.F328V - 19783390) |
CACNA1G | 306-N | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K317N - 14625171) |
CACNA1G | 310-N | None | 4 | SCN1A AB093548 | Dravet syndrome (p.S340F - 18930999) |
CACNA1G | 313-C | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G343D - 12566275) |
CACNA1G | 316-W | None | 5 | SCN1A AB093548 | Dravet syndrome (p.C345R - 18930999) |
CACNA1G | 318-Q | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.P336L - 17075016) |
CACNA1G | 322-N | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.R340Q - 15176425, p.R340W - 19716085) |
CACNA1G | 323-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
CACNA1G | 325-A | None | 8 | SCN3A NM_006922 | Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) |
CACNA1G | 327-E | None | 8 | SCN1A AB093548 | Dravet syndrome (p.G355D - 18930999) |
CACNA1G | 328-H | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R356G - 17561957) |
CACNA1G | 329-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N357I - 18930999) |
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) | ||||
CACNA1G | 330-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P358T - 17561957) |
CACNA1G | 333-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G351D - 20129283, p.G351V - 12051963) |
CACNA1G | 335-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T353I - 17198989) |
CACNA1G | 338-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D366E - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.D356N - 16325048) | ||||
CACNA1G | 349-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R367C - 12106943, p.R367L - 20129283) Sudden unexplained nocturnal death syndrome (p.R367H - 11823453) | ||||
CACNA1G | 350-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L378Q - 18930999) |
CACNA1G | 351-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M369K - 12106943) |
CACNA1G | 352-T | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.T370M - 16712702) |
CACNA1G | 355-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F383L - 17054684) |
CACNA1G | 356-W | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W374G - 20129283) |
CACNA1G | 358-D | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R376H - 15851228) |
CACNA1G | 360-M | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195) |
CACNA1G | 365-D | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) |
CACNA1G | 367-H | None | 8 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.A395P - 17347258) |
CACNA1G | 368-S | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.G386R - 20129283, p.G386E - 20129283) |
CACNA1G | 375-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F403L - 17347258) |
CACNA1G | 378-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V406F - 19589774) |
SCN5A NM_198056 | Brugada syndrome (p.V396A - 20129283, p.V396L - 20129283) | ||||
CACNA1G | 379-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I397T - 19716085) |
CACNA1G | 382-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation during acute myocardial infarction (p.G400A - 17675083) |
CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) | ||||
CACNA1G | 384-F | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) |
CACNA1G | 385-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y413N - 17347258) |
CACNA1G | 386-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L404Q - 15840476) |
CACNA1G | 388-N | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.N395K - 15955112/17263810) |
SCN5A NM_198056 | Brugada syndrome (p.N406S - 15877619) Long QT syndrome (p.N406K - 19716085/15840476) | ||||
CACNA1G | 391-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L409V - 19716085) |
CACNA1G | 392-V | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G402S - 15863612) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) | ||||
CACNA1G | 393-V | None | 9 | SCN9A NM_002977 | Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) |
SCN5A NM_198056 | Long QT syndrome (p.V411M - 10961955) | ||||
SCN4A NM_000334 | Myotonia (p.V445M - 9392583) | ||||
CACNA1G | 394-I | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.V422E - 17347258) |
CACNA1G | 395-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A413E - 16414944, p.A413T - 16414944) |
CACNA1G | 396-T | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G406R - 15454078) |
CACNA1G | 398-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740) |
CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) | ||||
CACNA1G | 400-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.E430Q - 17386050) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) | ||||
CACNA1G | 410-R | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.E428K - 18378609) |
CACNA1G | 422-T | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E439K - 20129283) |
CACNA1G | 424-A | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
CACNA1G | 432-C | None | 1 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.C456S - 12891677) |
CACNA1G | 440-L | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.H445D - 18378609) |
CACNA1G | 456-R | Probably Benign - (p.R456Q - rs116920450) | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A480T - 15048902) |
CACNA1G | 457-A | None | 2 | CACNA1A X99897 | Spinocerebellar ataxia 6 (p.A405T - 20682717) |
CACNA1G | 463-G | None | 4 | SCN5A NM_198056 | Sudden adult death syndrome ? (p.L461V - 16712702) |
CACNA1G | 464-L | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E462A - 19716085, p.E462K - 15840476) |
CACNA1G | 467-S | None | 2 | SCN9A NM_002977 | Febrile seizures ? (p.S490N - 19763161) |
CACNA1G | 468-P | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P492S - 17156077) |
CACNA1G | 475-E | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G499S - 12891677) |
CACNA1G | 482-C | None | 2 | SCN1A AB093548 | Dravet syndrome (p.S525F - 18930999) |
CACNA1G | 484-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D501G - 20129283) |
CACNA1G | 495-V | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.E519K - 19763161) |
CACNA1G | 501-H | Probably Benign - (p.H501I - rs145401248) | 2 | ||
CACNA1G | 507-L | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.T512I - 12569159) |
CACNA1G | 508-G | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.G514C - 11234013) |
CACNA1G | 517-A | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R523C - 18752142) |
CACNA1G | 520-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R526H - 20129283) |
CACNA1G | 521-I | None | 2 | SCN2A NM_021007 | Neonatal-infantile seizures (p.A575V - 19786696) |
CACNA1G | 525-D | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.F530V - 19716085) |
CACNA1G | 529-S | None | 2 | SCN5A NM_198056 | Sudden infant death syndrome (p.F532C - 18596570) |
CACNA1G | 530-R | Benign - (p.R530H - rs7222276) | 2 | ||
CACNA1G | 539-T | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R535Q - 19716085) |
CACNA1G | 547-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.F543L - 20129283) |
CACNA1G | 555-S | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A551T - 16155735) |
CACNA1G | 556-F | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G552R - 20129283) |
CACNA1G | 559-A | None | 3 | SCN5A NM_198056 | Brugada syndrome ? (p.E555K - 12639704) |
CACNA1G | 561-C | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus ? (p.R604H - 19236456) |
CACNA1G | 567-R | Benign - (p.R567C - rs60802569) | 3 | ||
CACNA1G | 570-A | Epilepsy - Myoclonic epilepsy, juvenile (p.A570V - 17397049) | 2 | ||
CACNA1G | 571-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.L567Q - 10711933) |
CACNA1G | 575-S | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R569W - 19716085) |
CACNA1G | 577-S | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.Q573E - 16414944) |
CACNA1G | 588-K | None | 2 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.S626G - 17347258) |
CACNA1G | 590-Y | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A586T - 21321465) |
CACNA1G | 595-T | None | 1 | SCN9A NM_002977 | Erythermalgia, primary (p.P610T - 15955112) |
CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.P618L - 15048902) | ||||
CACNA1G | 617-P | None | 1 | SCN9A NM_002977 | Febrile seizures (p.N641Y - 19763161) |
SCN5A NM_198056 | Long QT syndrome, drug-associated (p.G615E - 11997281) | ||||
CACNA1G | 620-T | None | 2 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L618F - 11997281) |
CACNA1G | 622-L | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.L619F - 12673799) |
CACNA1G | 623-N | Probably Benign - (p.N623S - rs76148583) | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D674G - 17347258) |
CACNA1G | 637-E | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.T632M - 20129283) |
CACNA1G | 642-G | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.P637L - 15840476) |
CACNA1G | 644-C | None | 2 | SCN9A NM_002977 | Febrile seizures (p.K655R - 19763161) |
SCN5A NM_198056 | Long QT syndrome (p.G639R - 16922724/19716085) | ||||
CACNA1G | 645-Q | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.P640A - 20129283) |
CACNA1G | 652-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.A647D - 20129283) |
CACNA1G | 653-P | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.P648L - 15840476) |
CACNA1G | 656-K | Probably Benign - (p.K656E - rs78797756) | 2 | ||
CACNA1G | 659-S | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E654K - 19716085) |
CACNA1G | 660-G | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.E655K - 18378609) |
CACNA1G | 666-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R661W - 20129283) |
CACNA1G | 673-A | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.I684M - 19763161) |
CACNA1G | 674-G | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.G490R - 17224476) |
CACNA1G | 675-A | Probably Benign - (p.A675E - rs147741844) | 2 | ||
CACNA1G | 678-V | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.L673P - 19716085) |
CACNA1G | 682-D | Probably Benign - (p.D682H - rs113488484) | 3 | ||
CACNA1G | 686-P | None | 3 | SCN5A NM_198056 | Sudden infant death syndrome (p.R680H - 17210839) |
CACNA1G | 687-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.H681P - 11901046) |
CACNA1G | 690-S | Probably Benign - (p.S690N - rs61453167) | 1 | ||
CACNA1G | 695-E | Probably Benign - (p.E695G - rs113693777) | 1 | ||
CACNA1G | 710-S | None | 3 | SCN9A NM_002977 | Dravet syndrome ? (p.C699Y - 19763161) |
SCN5A NM_198056 | Brugada syndrome (p.C683G - 20129283) | ||||
CACNA1H NM_021098 | Epilepsy, childhood absence (p.R744Q - 12891677) | ||||
CACNA1G | 711-R | Probably Benign - (p.R711W - rs2301833) | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
CACNA1G | 715-S | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R689C - 19716085, p.R689H - 16414944) |
CACNA1G | 717-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.A691T - 15176425) |
CACNA1G | 718-P | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q692K - 12566525) |
CACNA1G | 723-S | None | 6 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G773D - 12891677) |
CACNA1G | 727-A | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P701L - 19716085) |
CACNA1G | 733-C | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
CACNA1G | 734-D | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G784S - 12891677) |
CACNA1G | 735-T | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.G709V - 20541041) |
CACNA1G | 743-K | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P768L - 19350499) |
SCN5A NM_198056 | Brugada syndrome (p.P717L - 20129283) | ||||
CACNA1G | 749-I | None | 9 | SCN9A NM_002977 | Febrile seizures ? (p.I739V - 19763161) |
CACNA1G | 757-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T731I - 19716085) |
CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) | ||||
CACNA1G | 758-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L783P - 17347258) |
CACNA1G | 761-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A735E - 11901046, p.A735T - 20609320) Sudden unexplained nocturnal death syndrome (p.A735V - 11823453) |
CACNA1G | 763-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E788K - 18076640) |
CACNA1G | 765-H | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682) |
CACNA1G | 772-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E746K - 20129283) |
CACNA1G | 776-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q750R - 19716085) |
CACNA1G | 778-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G752R - 12693506) |
CACNA1G | 781-V | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.V831M - 12891677) |
CACNA1G | 783-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T808S - 12566275) |
CACNA1G | 784-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G758E - 20129283) |
CACNA1G | 785-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I759F - 19862833) |
CACNA1G | 787-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T812R - 17054684) |
CACNA1G | 789-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
CACNA1G | 790-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M764R - 20129283) |
CACNA1G | 798-G | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D772N - 19716085) |
CACNA1H NM_021098 | Epilepsy, childhood absence (p.G848S - 12891677) | ||||
CACNA1G | 799-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P773S - 20129283) |
CACNA1G | 805-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q779K - 20541041) |
CACNA1G | 815-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.V789I - 20129283) |
CACNA1G | 818-S | None | 6 | SCN1A AB093548 | Dravet syndrome (p.S843R - 18930999/18930999) |
CACNA1G | 826-Q | None | 6 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A876T - 17696120) |
CACNA1G | 828-G | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E853K - 17054684) |
CACNA1G | 832-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
CACNA1G | 833-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L823R - 19800314) |
CACNA1G | 834-R | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R859C - 16525050) |
SCN5A NM_198056 | Long QT syndrome (p.R808P - 19862833) | ||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) | ||||
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | ||||
CACNA1G | 836-F | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
CACNA1G | 837-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
CACNA1G | 840-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R814Q - 17442746) Cardiomyopathy, dilated (p.R814W - 15671429) |
SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) | ||||
CACNA1G | 842-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F816Y - 19716085) |
CACNA1G | 844-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
CACNA1G | 850-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094) |
CACNA1G | 852-Q | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R902W - 16754686) |
CACNA1G | 854-Q | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
CACNA1G | 858-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.I848T - 14985375) |
SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) | ||||
CACNA1G | 859-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G833R - 19862833) |
CACNA1G | 861-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S835L - 15277732) |
CACNA1G | 865-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L839P - 16426410) |
CACNA1G | 866-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G840R - 19862833) |
CACNA1G | 868-F | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) |
SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) | ||||
CACNA1G | 869-C | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T843A - 16244680) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) | ||||
CACNA1G | 871-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V896L - 18930999) |
CACNA1G | 873-M | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.A863P - 17135418) |
CACNA1G | 874-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.I848F - 19716085) | ||||
CACNA1G | 876-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V892I - 15048894) |
CACNA1G | 877-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F902C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.F851L - 11901046/20129283) | ||||
CACNA1G | 882-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.V872G - 19162012) |
CACNA1G | 883-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
CACNA1G | 889-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
CACNA1G | 893-S | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.E867Q - 20129283) |
CACNA1G | 899-T | None | 4 | SCN1A AB093548 | Dravet syndrome (p.C927F - 18930999) |
CACNA1G | 903-R | None | 8 | SCN9A NM_002977 | Congenital indifference to pain (p.R896Q - 20635406) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R931C - 12083760) | ||||
SCN5A NM_198056 | Brugada syndrome (p.R878C - HGOL, p.R878H - 20129283) | ||||
CACNA1G | 906-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421) |
CACNA1G | 907-D | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) |
CACNA1G | 911-W | None | 9 | SCN1A AB093548 | Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708) |
SCN5A NM_198056 | Brugada syndrome (p.H886P - 20129283) | ||||
CACNA1H NM_021098 | Autism spectrum disorder ? (p.W962C - 16754686) | ||||
CACNA1G | 914-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L942P - 17054684) |
CACNA1G | 915-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I943N - 18930999) |
CACNA1G | 916-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) |
CACNA1G | 917-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F945L - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.F892I - 11901046) | ||||
CACNA1G | 918-Q | None | 9 | SCN1A AB093548 | Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) |
SCN5A NM_198056 | Brugada syndrome (p.R893C - 20129283, p.R893H - 20129283) | ||||
CACNA1G | 921-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.C896S - 11901046) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) | ||||
CACNA1G | 922-Q | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G950E - 17347258) |
CACNA1G | 925-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W952G - 18554359) |
CACNA1G | 927-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E901K - 20129283) |
CACNA1G | 930-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W957L - 17561957) |
CACNA1G | 932-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C959R - 12754708) |
CACNA1G | 933-M | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M960V - 12566275) |
CACNA1G | 936-T | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.S910L - 11901046) |
CACNA1G | 940-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C915R - 20129283) |
CACNA1G | 942-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L917R - 20129283) |
CACNA1G | 943-Y | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
CACNA1G | 945-I | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999) |
CACNA1G | 948-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) |
CACNA1G | 951-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G979R - 12566275) |
CACNA1G | 952-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N927S - 16764707) |
CACNA1G | 953-Y | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L928P - 20129283) |
CACNA1G | 954-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V982L - 19763161) |
CACNA1G | 955-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V983A - 12566275) |
CACNA1G | 957-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N985I - 12566275) |
CACNA1G | 958-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211) |
CACNA1G | 959-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
CACNA1G | 960-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L935P - 20129283) |
CACNA1G | 961-A | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
CACNA1G | 962-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L990F - 18076640) |
CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) | ||||
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | ||||
CACNA1G | 964-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
CACNA1G | 965-E | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
CACNA1G | 966-G | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
CACNA1G | 970-E | None | 5 | SCN1A AB093548 | Dravet syndrome (p.D998G - 18930999) |
CACNA1G | 983-S | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.N1001K - 16417554) |
CACNA1G | 984-C | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1011I - 12566275) |
CACNA1G | 985-I | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1003I - 15048894) |
CACNA1G | 986-Q | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q960K - 19716085) |
CACNA1G | 991-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R965C - 11901046, p.R965H - 16764707) Long QT syndrome (p.R965L - 19716085) |
CACNA1G | 996-A | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R971C - 15840476) |
CACNA1G | 1000-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R975W - 19322600) |
CACNA1G | 1003-P | None | 3 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.R996C - 17145499) |
CACNA1G | 1006-F | None | 3 | SCN1A AB093548 | Autism ? (p.I1034T - 12610651) |
SCN5A NM_198056 | Long QT syndrome (p.C981F - 19716085) | ||||
CACNA1G | 1007-S | None | 3 | SCN5A NM_198056 | Sudden adult death syndrome (p.C982R - 16712702) |
CACNA1G | 1010-L | None | 2 | SCN1A AB093548 | Autism ? (p.F1038L - 12610651) |
CACNA1G | 1027-E | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A997T - 20129283) Sudden infant death syndrome (p.A997S - 11710892) |
CACNA1G | 1028-H | None | 2 | CACNA1A X99897 | Episodic ataxia 2 (p.M798T - 20129625) |
CACNA1G | 1034-S | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.C1004R - 19716085) |
CACNA1G | 1035-L | None | 2 | SCN5A NM_198056 | Cardiac conduction disease (p.P1008S - 20025708) |
CACNA1G | 1053-S | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
CACNA1G | 1057-G | None | 2 | SCN1A AB093548 | Dravet syndrome (p.E1068K - 18930999) |
CACNA1G | 1062-L | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.R1023H - 16344400) |
CACNA1G | 1089-A | Epilepsy - Myoclonic epilepsy, juvenile (p.A1089S - 17397049) | 1 | ||
CACNA1G | 1099-A | Benign - (p.A1099T - rs58240016) | 1 | ||
CACNA1G | 1121-R | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
CACNA1G | 1129-R | Probably Benign - (p.R1129G - rs147295820) | 3 | SCN5A NM_198056 | Brugada syndrome (p.E1053K - 11901046) |
CACNA1G | 1131-L | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.D1055G - 20129283) |
CACNA1G | 1135-E | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.E1170K - 17696120) |
CACNA1G | 1166-R | Probably Benign - (p.R1166Q - rs41280124) | 1 | ||
CACNA1G | 1180-V | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.T1069M - 15840476) |
CACNA1G | 1196-H | None | 2 | SCN5A NM_198056 | Atrial fibrillation ? (p.T1131I - 18378609) |
CACNA1G | 1204-A | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E1138A - 19862833) |
CACNA1G | 1206-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.S1140T - 20129283) |
CACNA1G | 1212-L | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.L1123F - 19763161) |
CACNA1G | 1225-D | None | 1 | SCN1A AB093548 | Hemiplegic migraine (p.T1174S - 18021921) |
CACNA1G | 1227-E | Probably Benign - (p.E1227K - rs60039322) | 2 | ||
CACNA1G | 1230-L | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.D1166N - 19716085) |
CACNA1G | 1235-R | Probably Benign - (p.R1235Q - rs150972562) | 0 | ||
CACNA1G | 1246-A | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.Q1264H - 17696120) |
CACNA1G | 1250-E | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1175C - HGOL) |
CACNA1G | 1255-S | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.A1180V - 19808398) |
CACNA1G | 1259-F | None | 4 | SCN9A NM_002977 | Dravet syndrome ? (p.E1160Q - 19763161) |
CACNA1G | 1262-Q | None | 6 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445) |
CACNA1G | 1264-R | None | 8 | SCN5A NM_198056 | Sudden unexplained nocturnal death syndrome (p.R1193Q - 11823453) |
CACNA1G | 1265-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1207P - 18413471) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) | ||||
CACNA1G | 1266-R | None | 9 | SCN5A NM_198056 | Ventricular tachycardia (p.R1195H - 19632629) |
CACNA1G | 1268-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1210K - 19350499) |
CACNA1G | 1270-H | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1199S - 19716085) |
CACNA1G | 1277-M | None | 9 | SCN5A NM_198056 | Sudden cardiac death (p.W1206C - 18071069) |
CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) | ||||
CACNA1G | 1279-D | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.E1211K - 19786696) |
CACNA1G | 1289-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) |
CACNA1G | 1290-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1219N - 20129283) |
CACNA1G | 1291-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1233R - 12821740) |
CACNA1G | 1296-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1238D - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.E1225K - 12106943) | ||||
CACNA1G | 1297-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) |
CACNA1G | 1299-K | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.Y1228H - 20129283) |
CACNA1G | 1302-P | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.E1231K - 15840476) |
CACNA1G | 1303-H | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1245Q - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.R1232Q - 20129283) Ventricular fibrillation, idiopathic ? (p.R1232W - 9521325) | ||||
CACNA1G | 1307-R | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) |
SCN5A NM_198056 | Brugada syndrome (p.K1236N - 11901046) Brugada syndrome ? (p.K1236R - 21126620) | ||||
CACNA1G | 1308-I | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081) |
CACNA1G | 1310-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1239P - 20129283) |
CACNA1G | 1311-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1240Q - 11901046) |
CACNA1G | 1312-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1241S - 19862833) |
CACNA1G | 1313-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1255D - 18930999) |
CACNA1G | 1314-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1243N - 20129283) |
CACNA1G | 1318-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1260P - 20431604) |
CACNA1G | 1319-A | Probably Benign - (p.A1319T - rs60231077) | 9 | ||
CACNA1G | 1320-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1249D - 20129283) |
CACNA1G | 1321-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1263L - 12566275) |
SCN5A NM_198056 | Long QT syndrome, drug-associated (p.F1250L - 11997281) | ||||
CACNA1G | 1323-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1265P - 12083760) |
CACNA1G | 1324-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1253G - 20129283) |
CACNA1G | 1328-K | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608) |
CACNA1G | 1332-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) |
CACNA1G | 1333-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1275V - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1262S - 15338453) | ||||
CACNA1G | 1334-W | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
CACNA1G | 1346-W | None | 9 | SCN1A AB093548 | Dravet syndrome (p.W1284S - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.W1271C - 20129283) | ||||
CACNA1G | 1349-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1287P - 20431604) |
CACNA1G | 1350-D | None | 9 | SCN5A NM_198056 | Atrial standstill (p.D1275N - 12522116) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) | ||||
CACNA1G | 1353-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1278N - 19841300) |
CACNA1G | 1354-V | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
CACNA1G | 1356-I | None | 9 | SCN5A NM_198056 | Brugada syndrome ? (p.V1281F - 21126620) |
CACNA1G | 1358-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1283M - 19716085) |
CACNA1G | 1363-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.A1288G - 20129283) |
CACNA1G | 1369-S | None | 7 | SCN9A NM_002977 | Dravet syndrome ? (p.L1267V - 19763161) |
CACNA1G | 1370-G | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
CACNA1G | 1371-T | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.F1293S - 11901046) |
CACNA1G | 1373-I | None | 8 | SCN1A AB093548 | Febrile seizures (p.E1308D - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.E1295K - 11304498) | ||||
CACNA1G | 1374-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752) |
CACNA1G | 1376-M | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.P1298L - 14523039) |
CACNA1G | 1381-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R1316S - 18930999) |
SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) | ||||
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | ||||
CACNA1G | 1382-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1304M - 10508990) |
CACNA1G | 1384-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) | ||||
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | ||||
CACNA1G | 1386-L | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.L1308F - 18599870) |
CACNA1G | 1387-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1312T - 19783390) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) | ||||
CACNA1G | 1389-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1311P - 20129283) |
CACNA1G | 1391-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318) |
CACNA1G | 1393-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S1328P - 18930999) |
CACNA1G | 1394-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1319Q - 15048894) |
CACNA1G | 1397-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1319V - 12106943) |
CACNA1G | 1400-L | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1335M - 18413471) | ||||
CACNA1G | 1401-V | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1299F - 17145499) |
SCN5A NM_198056 | Brugada syndrome (p.V1323G - 20129283) | ||||
CACNA1G | 1402-V | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
CACNA1G | 1403-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1325S - 8541846) |
CACNA1G | 1404-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1326S - 19716085) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) | ||||
CACNA1G | 1405-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1330F - 12243921) |
CACNA1G | 1407-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G1329S - 21216356) |
CACNA1G | 1408-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1330P - 11535573, p.A1330T - 12566525) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) | ||||
CACNA1G | 1410-K | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.P1308L - 20429905) |
SCN5A NM_198056 | Long QT syndrome (p.P1332L - 14676229) | ||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) | ||||
CACNA1G | 1411-P | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1333Y - 16922724) |
CACNA1G | 1412-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1334V - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) | ||||
CACNA1G | 1416-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1338V - 19716085) |
CACNA1G | 1418-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444) |
SCN5A NM_198056 | Brugada syndrome (p.V1340I - 20129283) | ||||
CACNA1G | 1419-C | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
CACNA1G | 1420-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1355P - 14738421) |
CACNA1G | 1422-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1344L - 20129283, p.F1344S - 16616735) |
CACNA1G | 1423-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1358S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.W1345C - 20339501) | ||||
CACNA1G | 1424-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1346I - 20129283, p.L1346P - 20129283) |
CACNA1G | 1428-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1350T - 12845244) |
CACNA1G | 1429-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M1351R - 20129283) |
CACNA1G | 1430-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
CACNA1G | 1431-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202) |
SCN5A NM_198056 | Brugada syndrome (p.V1353M - 20129283) | ||||
CACNA1G | 1432-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N1367K - 18930999) |
CACNA1G | 1436-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1358W - 20129283) |
CACNA1G | 1437-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1359N - 20129283) |
CACNA1G | 1438-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1360C - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) | ||||
CACNA1G | 1441-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1363Y - 16764707) |
CACNA1G | 1445-D | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.D1463N - 12891677) |
CACNA1G | 1449-I | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1390M - 12083760) |
CACNA1G | 1450-T | None | 5 | SCN1A AB093548 | Dravet syndrome (p.N1391S - 18930999) |
CACNA1G | 1451-N | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.N1380K - HGOL) |
CACNA1G | 1452-K | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.H1393P - 17129991) |
CACNA1G | 1453-S | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.S1382I - 12106943) |
CACNA1G | 1454-D | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1395Y - 21114141) |
CACNA1G | 1455-C | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1396G - 17347258) |
CACNA1G | 1460-Y | None | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
CACNA1G | 1468-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1414Y - 17561957) |
CACNA1G | 1470-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1416G - 18930999) |
CACNA1G | 1472-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1405L - 12106943, p.V1405M - 20129283) |
CACNA1G | 1473-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1406R - 12106943, p.G1406E - 20129283) |
CACNA1G | 1475-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1408R - 11748104) |
CACNA1G | 1476-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1422C - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.Y1409C - 20129283) | ||||
CACNA1G | 1479-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1412F - 20129283) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) | ||||
CACNA1G | 1480-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1426R - 17054684) |
CACNA1G | 1482-L | None | 9 | SCN1A AB093548 | Febrile seizures (p.V1428A - 11524484) |
CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) | ||||
CACNA1G | 1485-K | None | 9 | SCN1A AB093548 | Dravet syndrome (p.F1431I - 18930999) |
CACNA1G | 1486-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1419E - 20129283) |
CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.E1115K - 20817017) | ||||
CACNA1G | 1487-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.G1420R - 20129283) Brugada syndrome ? (p.G1420V - 21126620) | ||||
CACNA1G | 1488-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1434R - 12083760) |
CACNA1G | 1491-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1437M - 18930999) |
CACNA1G | 1494-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1427S - 20129283) |
CACNA1G | 1495-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1441P - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A1428V - 20129283) | ||||
CACNA1G | 1499-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1432G - 10727653) Long QT syndrome (p.R1432S - 19716085) |
CACNA1G | 1500-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1433V - 20129283) |
CACNA1G | 1504-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760) |
CACNA1G | 1505-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1451L - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.P1438L - 18156160) | ||||
CACNA1G | 1508-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1441Q - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) | ||||
CACNA1G | 1515-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1461I - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I1448L - 20129283, p.I1448T - 20129283) | ||||
CACNA1G | 1516-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1462C - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.Y1449C - 20129283) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) | ||||
CACNA1G | 1517-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1463S - 12821740) |
CACNA1G | 1518-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1451D - 20129283) |
CACNA1G | 1519-S | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
CACNA1G | 1524-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1470W - 17561957) |
CACNA1G | 1525-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1458Y - 15840476) |
CACNA1G | 1529-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1475S - 17054684) |
CACNA1G | 1530-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1463Y - 20129283) |
CACNA1G | 1532-F | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
CACNA1G | 1534-G | None | 9 | SCN1A AB093548 | Myoclonic-astatic epilepsy (p.G1480V - 17347258) |
CACNA1G | 1535-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1468F - 20129283) |
SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) | ||||
CACNA1G | 1537-V | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.I1473M - 19786696) |
CACNA1G | 1538-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1484G - 18930999) |
CACNA1G | 1539-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1472S - 19716085) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) | ||||
CACNA1G | 1540-F | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.F1449V - 15958509) |
SCN5A NM_198056 | Long QT syndrome (p.F1473C - 18060054, p.F1473S - 20339117) | ||||
CACNA1G | 1543-C | None | 7 | SCN1A AB093548 | Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696) |
CACNA1G | 1545-Q | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
CACNA1G | 1547-Q | Probably Benign - (p.Q1547H - rs111416042) | 5 | ||
CACNA1G | 1548-E | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G1481E - 15840476) |
SCN4A NM_000334 | Myotonia (p.G1306A - 8308722, p.G1306E - 8308722) Paramyotonia congenita (p.G1306V - 1310898) | ||||
CACNA1G | 1552-A | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.I1461T - 17145499) |
CACNA1G | 1553-R | None | 6 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.F1462V - 17145499) |
SCN1A AB093548 | Hemiplegic migraine 2 (p.F1499L - 19332696) | ||||
SCN5A NM_198056 | Sudden adult death syndrome (p.F1486L - 17210839) | ||||
CACNA1G | 1554-R | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.M1487L - 19716085) |
CACNA1G | 1555-R | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.T1464I - 17145499) |
SCN5A NM_198056 | Long QT syndrome (p.T1488R - 19716085) | ||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) | ||||
CACNA1G | 1556-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1489D - 19716085) |
CACNA1G | 1557-E | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1503K - 19783390) |
CACNA1G | 1560-L | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.K1493R - 19167345) |
CACNA1G | 1561-R | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.Y1494N - 18341814) |
CACNA1G | 1562-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.Y1495S - 19716085) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1086C - 10590402) Malignant hyperthermia (p.R1086H - 9199552, p.R1086S - 20431982) | ||||
CACNA1G | 1570-L | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
CACNA1G | 1571-M | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.M1498T - 16414944, p.M1498V - 19716085) |
CACNA1G | 1575-V | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.G1502S - 12106943) |
CACNA1G | 1580-S | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.K1505N - 19716085) |
CACNA1G | 1595-S | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.R1512W - 10690282) |
CACNA1G | 1604-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1521K - 20129283) |
CACNA1G | 1608-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1538I - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.V1525M - 20129283) | ||||
CACNA1G | 1609-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1539P - 18076640) |
CACNA1G | 1613-L | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.F1543S - 17347258) |
CACNA1G | 1614-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1544A - 18930999) |
CACNA1G | 1615-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1545V - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.V1532I - 19716085) | ||||
CACNA1G | 1618-T | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
CACNA1G | 1621-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
CACNA1G | 1628-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
CACNA1G | 1631-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E1561K - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.E1548K - 20129283) | ||||
CACNA1G | 1636-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1553R - 21321465) |
CACNA1G | 1643-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1563V - 12243921) |
SCN5A NM_198056 | Long QT syndrome (p.L1560F - 19716085) | ||||
CACNA1G | 1645-I | None | 9 | SCN9A NM_002977 | Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) |
SCN1A AB093548 | Rasmussen encephalitis (p.R1575C - 18031552) | ||||
CACNA1G | 1649-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1579E - 18930999) |
CACNA1G | 1651-T | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
CACNA1G | 1654-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1571C - 20129283) |
CACNA1G | 1656-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1586E - 18930999) |
CACNA1G | 1657-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1574K - 19808440) |
CACNA1G | 1658-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1588R - 17561957) |
CACNA1G | 1665-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1582P - 19843921) |
CACNA1G | 1666-G | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.R1583C - 20129283, p.R1583H - 20129283) | ||||
CACNA1G | 1677-Q | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.I1596S - 17386050) |
SCN5A NM_198056 | Long QT syndrome (p.I1593M - 19716085) | ||||
CACNA1G | 1678-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1594S - 19716085) |
SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) | ||||
CACNA1G | 1679-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1608Y - 17561957) |
SCN5A NM_198056 | Atrioventricular conduction block (p.D1595N - 11804990) Cardiomyopathy, dilated (p.D1595H - 15671429) | ||||
CACNA1G | 1680-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1596I - 19716085) |
CACNA1G | 1681-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1597M - 19862833) |
CACNA1G | 1682-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1611F - 12566275) |
CACNA1G | 1683-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1612I - 18930999) |
CACNA1G | 1686-S | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
CACNA1G | 1687-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) |
CACNA1G | 1688-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1604M - 20129283) |
CACNA1G | 1692-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
CACNA1G | 1693-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1609W - 16922724) |
CACNA1G | 1695-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
CACNA1G | 1697-V | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.Q1613L - 20129283) |
CACNA1G | 1703-I | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1630M - 17561957) |
SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) | ||||
CACNA1G | 1705-P | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1632S - 12566275) |
CACNA1G | 1706-T | None | 7 | SCN5A NM_198056 | Cardiac conduction disease (p.T1620K - 18065446) Ventricular fibrillation, idiopathic (p.T1620M - 9521325) |
CACNA1G | 1709-R | None | 6 | SCN1A AB093548 | Lennox-Gastaut syndrome (p.R1636Q - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.R1623Q - 9506831, p.R1623L - 10973849) | ||||
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | ||||
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | ||||
CACNA1G | 1710-I | None | 6 | SCN1A AB093548 | Hepatic coma (p.V1637E - 20392657) |
CACNA1G | 1712-R | None | 6 | SCN1A AB093548 | Dravet syndrome (p.R1639G - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.R1626H - 18752142, p.R1626P - 10961955) | ||||
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) | ||||
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | ||||
CACNA1G | 1715-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.R1629Q - 20129283, p.R1629G - 19843921) |
CACNA1G | 1717-A | None | 7 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.G1607R - 21079636) |
SCN5A NM_198056 | Long QT syndrome, malignant perinatal variant (p.G1631D - 19808432) | ||||
SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) | ||||
CACNA1G | 1718-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1645Q - 17347258) |
SCN5A NM_198056 | Nodal rhythm (p.R1632H - 14523039) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) | ||||
CACNA1G | 1719-V | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
CACNA1G | 1721-K | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760) |
CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) | ||||
CACNA1G | 1722-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine (p.L1649Q - 17397047) |
CACNA1G | 1728-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1642E - 20129283) |
CACNA1G | 1729-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444) |
CACNA1G | 1730-R | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992) |
SCN5A NM_198056 | Brugada syndrome (p.R1644C - 16344400) Long QT syndrome (p.R1644H - 8541846) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) | ||||
CACNA1G | 1731-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957) |
SCN5A NM_198056 | Long QT syndrome (p.T1645M - 10508990) | ||||
CACNA1G | 1734-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1661S - 12754708) |
SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) | ||||
CACNA1G | 1735-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1649V - 17081365) |
CACNA1G | 1736-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1650F - 19716085) |
CACNA1G | 1737-M | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.M1627K - 17145499) |
SCN1A AB093548 | Dravet syndrome (p.M1664K - 18930999) | ||||
SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) | ||||
CACNA1G | 1738-Q | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1652R - 17698727, p.M1652T - 19716085) |
CACNA1G | 1741-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1668A - 12821740) |
CACNA1G | 1742-Q | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) |
SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) | ||||
CACNA1G | 1746-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1660V - 16414944) |
CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) | ||||
CACNA1G | 1747-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1674R - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.G1661R - 20129283/20129283) | ||||
CACNA1G | 1748-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1675R - 18930999) |
CACNA1G | 1750-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1677F - 18930999) |
CACNA1G | 1753-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1667I - 11274952) |
CACNA1G | 1756-I | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
CACNA1G | 1758-A | None | 9 | SCN1A AB093548 | Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275) |
SCN5A NM_198056 | Brugada syndrome (p.S1672Y - 20129283) | ||||
CACNA1G | 1760-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1687S - 17561957) |
CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) | ||||
CACNA1G | 1765-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1692S - 14738421) |
CACNA1G | 1766-G | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.A1680T - 16712702) |
CACNA1G | 1767-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1694C - 14738421) |
CACNA1G | 1782-H | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
CACNA1G | 1785-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1707V - 17347258) |
CACNA1G | 1787-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1709I - 12566275) |
CACNA1G | 1789-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1698T - 20129283) |
CACNA1G | 1791-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1713N - 16122630) |
CACNA1G | 1792-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684) |
CACNA1G | 1794-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1716R - 17561957) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) | ||||
CACNA1G | 1796-F | None | 9 | SCN5A NM_198056 | Sudden infant death syndrome (p.F1705S - 18596570) |
CACNA1G | 1797-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q1706H - 21321465) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) | ||||
CACNA1G | 1798-V | Benign - (p.V1798F - rs12941185) | 9 | ||
CACNA1G | 1799-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1721R - 17347258) |
CACNA1G | 1800-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T1709R - 20129283, p.T1709M - 17697823) |
CACNA1G | 1801-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation, idiopathic (p.S1710L - 10940383) |
CACNA1G | 1802-D | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
CACNA1G | 1803-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1725C - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1712S - 20129283) | ||||
CACNA1G | 1804-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1726R - 17347258) |
CACNA1G | 1805-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1714G - 16266370) |
CACNA1G | 1813-R | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.N1722D - 20031634) |
CACNA1G | 1814-D | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1723N - 19716085) |
CACNA1G | 1815-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1728R - 20129283, p.C1728W - 20129283) |
CACNA1G | 1816-D | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566) |
CACNA1G | 1822-Y | None | 5 | SCN9A NM_002977 | Congenital indifference to pain (p.C1719R - 20692858) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1756G - 19563458) | ||||
CACNA1G | 1823-N | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G1743E - 12106943) Brugada syndrome ? (p.G1743R - 12639704) |
CACNA1G | 1824-T | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
CACNA1G | 1825-V | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.A1746T - 20541041) |
CACNA1G | 1826-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1747M - 20541041) |
CACNA1G | 1827-S | None | 9 | SCN1A AB093548 | Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684) |
CACNA1G | 1830-Y | None | 9 | SCN1A AB093548 | Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) |
CACNA1G | 1834-F | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) |
CACNA1G | 1836-L | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) |
CACNA1G | 1838-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1773F - 17054684) |
CACNA1G | 1840-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1761H - 19716085, p.L1761F - 19716085) |
CACNA1G | 1842-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1763M - 15485686) |
SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) | ||||
CACNA1G | 1843-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1764F - 19808440) |
CACNA1G | 1845-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M1780T - 12821740) |
SCN5A NM_198056 | Long QT syndrome (p.M1766L - 12123767) | ||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | ||||
CACNA1G | 1846-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421) |
SCN5A NM_198056 | Long QT syndrome (p.Y1767C - 16414944) | ||||
CACNA1G | 1847-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.I1768V - 12566525) | ||||
CACNA1G | 1848-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) |
CACNA1G | 1850-L | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
CACNA1G | 1851-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1772V - 19996378) |
CACNA1G | 1852-K | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1787K - 17561957) |
CACNA1G | 1853-H | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1774S - 16038262) Long QT syndrome (p.N1774D - 19996378) |
CACNA1G | 1856-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1777M - 11463728) |
CACNA1G | 1858-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1779M - 15840476) |
CACNA1G | 1860-E | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615) |
CACNA1G | 1863-E | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.E1784K - 10377081) |
CACNA1G | 1865-A | None | 8 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.A1874V - 16754686) |
CACNA1G | 1866-E | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.D1790G - 9686753) |
CACNA1G | 1870-E | None | 8 | SCN1A AB093548 | Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275) |
CACNA1G | 1871-L | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.Y1795H - 11410597) Long QT syndrome (p.Y1795C - 11410597) |
CACNA1G | 1874-E | None | 8 | SCN1A AB093548 | Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275) |
CACNA1G | 1882-P | None | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
CACNA1G | 1891-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1831S - 12566275) |
CACNA1G | 1892-W | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1486P - 19578023) |
CACNA1G | 1893-P | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1819N - 16922724) |
CACNA1G | 1895-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1835F - 18930999) |
CACNA1G | 1898-P | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.P1824A - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) | ||||
CACNA1G | 1899-D | None | 8 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L1825P - 12208804) |
CACNA1G | 1900-S | None | 7 | SCN5A NM_198056 | Atrial fibrillation ? (p.R1826C - 18378609) Sudden infant death syndrome (p.R1826H - 11710892) |
CACNA1G | 1905-K | None | 4 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C1499R - 12111638) |
CACNA1A X99897 | Episodic ataxia 2 (p.C1870R - 20129625) | ||||
CACNA1G | 1906-P | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1500R - 12111638) |
CACNA1G | 1908-A | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.Q1832E - HGOL) |
CACNA1G | 1912-A | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640) |
CACNA1G | 1913-A | None | 6 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.V1857L - 15715999) |
CACNA1G | 1920-H | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.C1850S - 18252757) |
CACNA1G | 1922-S | None | 7 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1866Y - 15525788) |
CACNA1G | 1923-L | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1867T - 18251839) |
CACNA1G | 1931-L | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.V1861I - 20129283) |
CACNA1G | 1937-L | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1881D - 14504318) |
CACNA1G | 1942-S | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K1872N - 20129283) |
CACNA1G | 1945-W | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.M1875T - 18929244) |
CACNA1G | 1946-E | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
CACNA1G | 1949-L | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
CACNA1G | 1968-S | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1909I - 12083760) |
CACNA1G | 1970-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R1897W - 19716085) |
CACNA1G | 1971-G | None | 4 | SCN2A NM_021007 | Autism ? (p.R1902C - 12610651) |
CACNA1G | 1974-P | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1901Q - 19716085) |
CACNA1G | 1980-E | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1922T - 17347258) |
CACNA1G | 1981-M | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.Q1909R - 15840476) |
CACNA1G | 1985-S | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) |
SCN5A NM_198056 | Long QT syndrome (p.R1913H - 16414944) | ||||
CACNA1G | 1986-L | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1928G - 18413471) |
CACNA1G | 1996-C | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A1924T - 10690282) |
CACNA1G | 1999-A | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G1935S - 16267250) |
CACNA1G | 2001-T | None | 1 | SCN1A AB093548 | Autism ? (p.I1955T - 12610651) |
CACNA1G | 2003-D | None | 2 | SCN5A NM_198056 | Atrial fibrillation (p.V1951M - 18378609) Brugada syndrome (p.V1951L - 11901046) |
CACNA1G | 2073-K | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.S1964F - 21126620) |
CACNA1G | 2074-A | Probably Benign - (p.A2074P - rs57607229) | 2 | ||
CACNA1G | 2087-A | None | 1 | CACNA1A X99897 | Episodic ataxia 2 ? (p.R2091Q - 20663518) |
CACNA1G | 2108-A | Benign - (p.A2108S - rs8066269) | 0 | ||
CACNA1G | 2137-R | None | 1 | CACNA1A X99897 | Episodic ataxia 2 (p.R2136C - 15173248) |
CACNA1G | 2256-R | Probably Benign - (p.R2256H - rs59050469) | 1 | ||
CACNA1G | 2285-T | None | 1 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.V2014I - 20817017) |
CACNA1G | 2322-R | Probably Benign - (p.R2322Q - rs60940191) | 2 | ||
CACNA1G | 2340-S | None | 3 | CACNA1F NM_005183 | MRX (R/H - Tarpey 2009) |
CACNA1H (paralogue of LQTS gene SCN5A) | View alignment | ||||
Gene | Residue | Known Variants in CACNA1H | Consensus | Paralogue | Disease-causing Variants in Paralogues |
CACNA1H | 4-G | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.M1I - 20129283) |
CACNA1H | 5-A | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.A2T - 20609320) |
CACNA1H | 21-G | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G9V - 16922724) |
CACNA1H | 23-A | None | 2 | SCN9A NM_002977 | Erythermalgia, primary (p.Q10R - 19369487) |
CACNA1H | 30-P | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R18Q - 19716085, p.R18W - 15840476) |
CACNA1H | 38-R | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R27T - 20729507) |
CACNA1H | 39-E | None | 2 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) |
SCN5A NM_198056 | Brugada syndrome (p.R27H - 11901046) | ||||
CACNA1H | 40-A | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G35S - 11960580) |
CACNA1H | 45-E | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.A39V - 17224476) |
CACNA1H | 50-P | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.P52S - 19716085) |
CACNA1H | 51-S | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.R53Q - 19716085) |
CACNA1H | 56-A | None | 3 | SCN1A AB093548 | Dravet syndrome (p.G58V - 18930999) |
CACNA1H | 59-G | None | 3 | SCN1A AB093548 | Dravet syndrome (p.L61F - 18930999) |
CACNA1H | 62-L | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E78D - 12821740) |
CACNA1H | 64-A | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V95I - 17081365) |
CACNA1H | 65-D | Probably Benign - (p.D65N - rs142082648) | 4 | ||
CACNA1H | 73-P | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.R104Q - 11960580, p.R104W - 20129283) Long QT syndrome (p.R104G - 19716085) | ||||
CACNA1H | 75-L | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S103G - 12566275) |
CACNA1H | 78-T | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.N109K - 19843921) |
CACNA1H | 82-C | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V113I - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) | ||||
CACNA1H | 84-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T112I - 12566275) |
SCN5A NM_198056 | Long QT syndrome (p.S115G - 19716085) | ||||
CACNA1H | 90-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R118S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R121Q - 20129283, p.R121W - 19606473) | ||||
CACNA1H | 94-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V125L - 15840476) |
CACNA1H | 95-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K126E - 12051963) |
CACNA1H | 96-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I124N - 18930999) |
CACNA1H | 105-V | Probably Benign - (p.V105G - rs57552791) | 9 | SCN5A NM_198056 | Brugada syndrome (p.L136P - 17697823) |
CACNA1H | 107-M | None | 9 | SCN5A NM_198056 | Atrial fibrillation (p.M138I - 18378609) |
CACNA1H | 110-I | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.I136V - 17294067) |
SCN4A NM_000334 | Myotonia (p.I141V - 19015483) | ||||
CACNA1H | 115-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V146M - 20129283) |
CACNA1H | 117-L | None | 9 | SCN1A AB093548 | Febrile seizures (p.M145T - 16326807) |
CACNA1H | 126-V | Probably Benign - (p.V126I - rs150821225) | 4 | ||
CACNA1H | 130-S | None | 5 | SCN9A NM_002977 | Febrile seizures (p.P149Q - 19763161) |
CACNA1H | 139-F | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.E161Q - 20129283, p.E161K - 12106943) |
CACNA1H | 143-I | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T162P - 17054684) |
CACNA1H | 144-F | None | 7 | SCN1A AB093548 | Dravet syndrome (p.G163E - 18076640) |
CACNA1H | 150-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
CACNA1H | 153-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258) |
CACNA1H | 154-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K175N - 20129283) |
CACNA1H | 155-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I176M - 19996378) |
CACNA1H | 157-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A178G - 20129283) | ||||
CACNA1H | 159-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) | ||||
CACNA1H | 161-F | Epilepsy - Epilepsy, childhood absence (p.F161L - 12891677) | 9 | ||
CACNA1H | 163-Q | Probably Benign - (p.Q163H - rs60593994) | 9 | SCN5A NM_198056 | Brugada syndrome (p.A185V - 20129283) Long QT syndrome (p.A185T - 15176425) |
CACNA1H | 165-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T187I - 16325048) |
CACNA1H | 168-G | None | 9 | SCN2A NM_021007 | Febrile and afebrile seizures (p.R188W - 11371648) |
SCN5A NM_198056 | Long QT syndrome (p.R190Q - 17905336, p.R190G - 15176425) | ||||
CACNA1H | 169-D | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D188V - 11254444) |
CACNA1H | 171-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W190R - 14738421) |
CACNA1H | 172-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) |
CACNA1H | 175-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684) |
CACNA1H | 180-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T199R - 17347258) |
CACNA1H | 182-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A204V - 20129283) |
CACNA1H | 190-G | None | 6 | SCN5A NM_198056 | Atrial standstill ? (p.L212P - 16188595) Brugada syndrome (p.L212Q - 20129283) |
CACNA1H | 195-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V212A - 18076640) |
CACNA1H | 196-S | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.S211P - 20123784) |
SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.S216L - 19412328) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) | ||||
CACNA1H | 199-R | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
CACNA1H | 200-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T217K - 17054684) |
SCN5A NM_198056 | Nodal rhythm (p.T220I - 14523039) | ||||
CACNA1H | 201-V | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.F216S - 15955112) |
SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) | ||||
CACNA1H | 202-R | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.R222Q - 19412328) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) | ||||
CACNA1H | 203-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V223L - 20129283) |
CACNA1H | 205-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R223Q - 15048894) |
SCN5A NM_198056 | Cardiac conduction disease (p.R225W - 12574143) Long QT syndrome (p.R225Q - 16922724) | ||||
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | ||||
CACNA1H | 206-P | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A223E - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.A226V - 11901046) | ||||
CACNA1H | 208-R | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
CACNA1H | 209-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T226M - 17347258) |
CACNA1H | 210-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I227S - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I230V - 11901046) Cardiac conduction disease (p.I230T - 20564468) | ||||
CACNA1H | 212-R | Other Disease Phenotype - Autism spectrum disorder ? (p.R212R - 16754686) | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.V232I - 18599870) |
CACNA1H | 213-V | None | 9 | SCN9A NM_002977 | Dravet syndrome ? (p.I228M - 19763161) |
CACNA1H | 215-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G232S - 18930999) |
CACNA1H | 219-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.I234T - 20385509) |
SCN5A NM_198056 | Long QT syndrome (p.I239V - 15176425) | ||||
CACNA1H | 220-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V240M - 19716085) |
CACNA1H | 222-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | ||||
CACNA1H | 223-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) |
CACNA1H | 225-D | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q245K - 15840476) |
CACNA1H | 226-T | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.S241T - 16216943) |
SCN1A AB093548 | Dravet syndrome (p.S243Y - 18930999) | ||||
CACNA1H | 227-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V247L - 19716085) |
CACNA1H | 230-L | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
CACNA1H | 234-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.M252V - 20371507) |
CACNA1H | 235-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I252N - 15087100) |
CACNA1H | 238-F | Probably Benign - (p.F238C - rs59084089) | 9 | ||
CACNA1H | 241-F | Probably Benign - (p.F241V - rs56900494) | 9 | ||
CACNA1H | 242-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S259R - 20431604) |
CACNA1H | 243-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V261M - 20371507) |
CACNA1H | 245-G | None | 9 | SCN2A NM_021007 | Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) |
CACNA1H | 246-I | None | 9 | SCN1A AB093548 | Hemiplegic migraine and epilepsy (p.L263V - 19220312) |
CACNA1H | 248-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G265W - 12566275) |
CACNA1H | 250-Q | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q270K - 20129283) |
CACNA1H | 252-W | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
CACNA1H | 254-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
CACNA1H | 255-L | None | 9 | SCN5A NM_198056 | Long QT syndrome & atrial fibrillation (p.N275K - 18452873) |
CACNA1H | 256-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L276Q - 17697823) |
CACNA1H | 257-R | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
CACNA1H | 258-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.H278D - 20129283) |
CACNA1H | 260-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) |
CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) | ||||
CACNA1H | 262-L | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R282C - 20129283, p.R282H - 11901046) |
CACNA1H | 263-D | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) |
CACNA1H | 273-T | Probably Benign - (p.T273S - rs58386301) | 2 | ||
CACNA1H | 276-R | Probably Benign - (p.R276Q - rs59709076) | 3 | ||
CACNA1H | 282-E | Epilepsy - Epilepsy, childhood absence (p.E282K - 12891677) | 1 | ||
CACNA1H | 285-E | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G289S - 19716085) |
CACNA1H | 306-P | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V294M - 11901046) |
CACNA1H | 310-E | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.G298S - 11804990) |
CACNA1H | 313-M | Benign - (p.M313V - rs36117280) | 3 | ||
CACNA1H | 314-P | Epilepsy - Epilepsy, childhood absence (p.P314S - 17156077) | 3 | ||
CACNA1H | 316-T | None | 3 | SCN2A NM_021007 | Neonatal-infantile seizures (p.D322N - 19783390) |
CACNA1H | 318-G | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R322I - 17561957) |
CACNA1H | 321-A | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.L315P - 20129283) |
CACNA1H | 322-Y | None | 6 | SCN2A NM_021007 | Neonatal-infantile seizures (p.F328V - 19783390) |
CACNA1H | 323-T | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K317N - 14625171) |
CACNA1H | 325-P | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G319S - 11901046) |
CACNA1H | 329-G | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.L325R - 15890323) |
CACNA1H | 332-A | Benign - (p.A332T - rs59650398) | 5 | ||
CACNA1H | 334-R | None | 4 | SCN1A AB093548 | Dravet syndrome (p.S340F - 18930999) |
CACNA1H | 337-C | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G343D - 12566275) |
CACNA1H | 340-W | None | 5 | SCN1A AB093548 | Dravet syndrome (p.C345R - 18930999) |
CACNA1H | 342-Q | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.P336L - 17075016) |
CACNA1H | 346-V | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.R340Q - 15176425, p.R340W - 19716085) |
CACNA1H | 347-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
CACNA1H | 349-S | None | 8 | SCN3A NM_006922 | Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) |
CACNA1H | 351-D | None | 8 | SCN1A AB093548 | Dravet syndrome (p.G355D - 18930999) |
CACNA1H | 352-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R356G - 17561957) |
CACNA1H | 353-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N357I - 18930999) |
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) | ||||
CACNA1H | 354-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P358T - 17561957) |
CACNA1H | 357-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G351D - 20129283, p.G351V - 12051963) |
CACNA1H | 359-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T353I - 17198989) |
CACNA1H | 362-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D366E - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.D356N - 16325048) | ||||
CACNA1H | 373-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.R367C - 12106943, p.R367L - 20129283) Sudden unexplained nocturnal death syndrome (p.R367H - 11823453) | ||||
CACNA1H | 374-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L378Q - 18930999) |
CACNA1H | 375-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M369K - 12106943) |
CACNA1H | 376-T | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.T370M - 16712702) |
CACNA1H | 379-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F383L - 17054684) |
CACNA1H | 380-W | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W374G - 20129283) |
CACNA1H | 382-D | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R376H - 15851228) |
CACNA1H | 384-M | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195) |
CACNA1H | 389-D | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) |
CACNA1H | 391-H | None | 8 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.A395P - 17347258) |
CACNA1H | 392-S | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.G386R - 20129283, p.G386E - 20129283) |
CACNA1H | 399-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F403L - 17347258) |
CACNA1H | 402-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V406F - 19589774) |
SCN5A NM_198056 | Brugada syndrome (p.V396A - 20129283, p.V396L - 20129283) | ||||
CACNA1H | 403-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I397T - 19716085) |
CACNA1H | 406-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation during acute myocardial infarction (p.G400A - 17675083) |
CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) | ||||
CACNA1H | 408-F | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) |
CACNA1H | 409-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y413N - 17347258) |
CACNA1H | 410-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L404Q - 15840476) |
CACNA1H | 412-N | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.N395K - 15955112/17263810) |
SCN5A NM_198056 | Brugada syndrome (p.N406S - 15877619) Long QT syndrome (p.N406K - 19716085/15840476) | ||||
CACNA1H | 415-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L409V - 19716085) |
CACNA1H | 416-V | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G402S - 15863612) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) | ||||
CACNA1H | 417-V | None | 9 | SCN9A NM_002977 | Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) |
SCN5A NM_198056 | Long QT syndrome (p.V411M - 10961955) | ||||
SCN4A NM_000334 | Myotonia (p.V445M - 9392583) | ||||
CACNA1H | 418-I | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.V422E - 17347258) |
CACNA1H | 419-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A413E - 16414944, p.A413T - 16414944) |
CACNA1H | 420-T | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G406R - 15454078) |
CACNA1H | 422-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740) |
CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) | ||||
CACNA1H | 423-S | Probably Benign - (p.S423L - rs60741169) | 9 | ||
CACNA1H | 424-E | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.E430Q - 17386050) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) | ||||
CACNA1H | 434-R | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.E428K - 18378609) |
CACNA1H | 437-R | Probably Benign - (p.R437Q - rs59461207) | 3 | ||
CACNA1H | 439-R | Probably Benign - (p.R439H - rs139087979) | 4 | ||
CACNA1H | 446-T | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E439K - 20129283) |
CACNA1H | 448-A | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
CACNA1H | 456-C | Epilepsy - Epilepsy, childhood absence (p.C456S - 12891677) | 1 | ||
CACNA1H | 464-V | Benign - (p.V464M - rs61910721) | 4 | SCN5A NM_198056 | Atrial fibrillation (p.H445D - 18378609) |
CACNA1H | 480-A | Epilepsy - Idiopathic epilepsy, generalised (p.A480T - 15048902) | 2 | ||
CACNA1H | 481-R | None | 2 | CACNA1A X99897 | Spinocerebellar ataxia 6 (p.A405T - 20682717) |
CACNA1H | 487-R | None | 4 | SCN5A NM_198056 | Sudden adult death syndrome ? (p.L461V - 16712702) |
CACNA1H | 488-K | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E462A - 19716085, p.E462K - 15840476) |
CACNA1H | 491-D | None | 2 | SCN9A NM_002977 | Febrile seizures ? (p.S490N - 19763161) |
CACNA1H | 492-P | Epilepsy - Epilepsy, childhood absence (p.P492S - 17156077) | 2 | ||
CACNA1H | 499-G | Epilepsy - Epilepsy, childhood absence (p.G499S - 12891677) | 2 | ||
CACNA1H | 505-R | Benign - (p.R505C - rs60414549) | 3 | ||
CACNA1H | 506-R | Probably Benign - (p.R506W - rs58593315) | 2 | SCN1A AB093548 | Dravet syndrome (p.S525F - 18930999) |
CACNA1H | 508-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D501G - 20129283) |
CACNA1H | 515-H | Epilepsy - Epilepsy, childhood absence (p.H515Y - 15833171) | 2 | ||
CACNA1H | 516-H | Probably Benign - (p.H516R - rs57329732) | 2 | ||
CACNA1H | 519-Y | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.E519K - 19763161) |
CACNA1H | 525-H | Probably Benign - (p.H525P - rs148939812) | 2 | ||
CACNA1H | 531-F | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.T512I - 12569159) |
CACNA1H | 532-S | None | 3 | SCN5A NM_198056 | Cardiac conduction disease (p.G514C - 11234013) |
CACNA1H | 541-P | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R523C - 18752142) |
CACNA1H | 544-G | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R526H - 20129283) |
CACNA1H | 545-A | None | 2 | SCN2A NM_021007 | Neonatal-infantile seizures (p.A575V - 19786696) |
CACNA1H | 549-R | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.F530V - 19716085) |
CACNA1H | 553-A | None | 2 | SCN5A NM_198056 | Sudden infant death syndrome (p.F532C - 18596570) |
CACNA1H | 555-A | Probably Benign - (p.A555V - rs9924241) | 1 | ||
CACNA1H | 559-P | Probably Benign - (p.P559S - rs61363916) | 3 | SCN5A NM_198056 | Long QT syndrome (p.R535Q - 19716085) |
CACNA1H | 567-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.F543L - 20129283) |
CACNA1H | 568-D | Probably Benign - (p.D568N - rs61056448) | 3 | ||
CACNA1H | 574-S | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A551T - 16155735) |
CACNA1H | 575-I | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G552R - 20129283) |
CACNA1H | 578-A | None | 3 | SCN5A NM_198056 | Brugada syndrome ? (p.E555K - 12639704) |
CACNA1H | 580-C | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus ? (p.R604H - 19236456) |
CACNA1H | 589-A | None | 2 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A570V - 17397049) |
CACNA1H | 590-R | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.L567Q - 10711933) |
CACNA1H | 594-A | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R569W - 19716085) |
CACNA1H | 596-A | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.Q573E - 16414944) |
CACNA1H | 603-R | Benign - (p.R603K - rs61747577) | 2 | ||
CACNA1H | 605-A | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.G579R - 16414944) |
CACNA1H | 610-T | Probably Benign - (p.T610A - rs145345889) | 2 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.S626G - 17347258) |
CACNA1H | 613-Y | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A586T - 21321465) |
CACNA1H | 618-P | Epilepsy - Idiopathic epilepsy, generalised (p.P618L - 15048902) | 1 | SCN9A NM_002977 | Erythermalgia, primary (p.P610T - 15955112) |
CACNA1H | 640-P | Benign - (p.P640L - rs61734410) | 1 | SCN9A NM_002977 | Febrile seizures (p.N641Y - 19763161) |
SCN5A NM_198056 | Long QT syndrome, drug-associated (p.G615E - 11997281) | ||||
CACNA1H | 643-T | None | 2 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L618F - 11997281) |
CACNA1H | 645-G | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.L619F - 12673799) |
CACNA1H | 646-H | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.R620C - 20129283) |
CACNA1H | 647-G | Probably Benign - (p.G647S - rs147702970) | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D674G - 17347258) |
CACNA1H | 648-P | Epilepsy - Epilepsy, childhood absence (p.P648L - 12891677) | 1 | ||
CACNA1H | 656-P | Benign - (p.P656S - rs59079584) | 0 | ||
CACNA1H | 663-V | Probably Benign - (p.V663M - rs140979551) | 1 | ||
CACNA1H | 664-V | Benign - (p.V664A - rs4984636) | 1 | ||
CACNA1H | 665-G | None | 1 | SCN5A NM_198056 | Brugada syndrome (p.T632M - 20129283) |
CACNA1H | 670-G | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.P637L - 15840476) |
CACNA1H | 672-A | None | 2 | SCN9A NM_002977 | Febrile seizures (p.K655R - 19763161) |
SCN5A NM_198056 | Long QT syndrome (p.G639R - 16922724/19716085) | ||||
CACNA1H | 673-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.P640A - 20129283) |
CACNA1H | 685-L | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.A647D - 20129283) |
CACNA1H | 686-P | Probably Benign - (p.P686L - rs145376050) | 4 | SCN5A NM_198056 | Long QT syndrome (p.P648L - 15840476) |
CACNA1H | 690-A | Probably Benign - (p.A690V - rs61018135) | 3 | ||
CACNA1H | 692-T | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E654K - 19716085) |
CACNA1H | 693-L | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.E655K - 18378609) |
CACNA1H | 695-C | Probably Benign - (p.C695Y - rs59474756) | 3 | ||
CACNA1H | 699-S | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R661W - 20129283) |
CACNA1H | 705-R | Probably Benign - (p.R705C - rs56930579) | 2 | ||
CACNA1H | 706-A | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.I684M - 19763161) |
CACNA1H | 707-L | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.G490R - 17224476) |
CACNA1H | 712-G | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.L673P - 19716085) |
CACNA1H | 720-G | None | 3 | SCN5A NM_198056 | Sudden infant death syndrome (p.R680H - 17210839) |
CACNA1H | 721-D | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.H681P - 11901046) |
CACNA1H | 744-R | Epilepsy - Epilepsy, childhood absence (p.R744Q - 12891677) | 3 | SCN9A NM_002977 | Dravet syndrome ? (p.C699Y - 19763161) |
SCN5A NM_198056 | Brugada syndrome (p.C683G - 20129283) | ||||
CACNA1H | 745-P | None | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
CACNA1H | 748-A | Epilepsy - Epilepsy, childhood absence (p.A748V - 12891677) | 0 | ||
CACNA1H | 755-G | Epilepsy - Idiopathic epilepsy, generalised (p.G755D - 15048902) | 1 | ||
CACNA1H | 766-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R689C - 19716085, p.R689H - 16414944) |
CACNA1H | 768-A | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.A691T - 15176425) |
CACNA1H | 769-P | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q692K - 12566525) |
CACNA1H | 773-G | Epilepsy - Epilepsy, childhood absence (p.G773D - 12891677) | 6 | ||
CACNA1H | 775-M | Probably Benign - (p.M775R - rs80023799) | 6 | ||
CACNA1H | 777-R | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P701L - 19716085) |
CACNA1H | 780-V | Probably Benign - (p.V780F - rs60534546) | 6 | ||
CACNA1H | 783-S | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
CACNA1H | 784-G | Epilepsy - Epilepsy, childhood absence (p.G784S - 12891677) | 8 | ||
CACNA1H | 785-K | Probably Benign - (p.K785M - rs28365117) | 8 | SCN5A NM_198056 | Long QT syndrome (p.G709V - 20541041) |
CACNA1H | 788-R | Benign - (p.R788C - rs3751664) | 9 | ||
CACNA1H | 793-K | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P768L - 19350499) |
SCN5A NM_198056 | Brugada syndrome (p.P717L - 20129283) | ||||
CACNA1H | 799-I | None | 9 | SCN9A NM_002977 | Febrile seizures ? (p.I739V - 19763161) |
CACNA1H | 807-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T731I - 19716085) |
CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) | ||||
CACNA1H | 808-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L783P - 17347258) |
CACNA1H | 811-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A735E - 11901046, p.A735T - 20609320) Sudden unexplained nocturnal death syndrome (p.A735V - 11823453) |
CACNA1H | 813-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E788K - 18076640) |
CACNA1H | 815-H | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682) |
CACNA1H | 822-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E746K - 20129283) |
CACNA1H | 826-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q750R - 19716085) |
CACNA1H | 828-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G752R - 12693506) |
CACNA1H | 831-V | Epilepsy - Epilepsy, childhood absence (p.V831M - 12891677) | 9 | ||
CACNA1H | 833-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T808S - 12566275) |
CACNA1H | 834-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G758E - 20129283) |
CACNA1H | 835-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I759F - 19862833) |
CACNA1H | 837-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T812R - 17054684) |
CACNA1H | 839-E | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
CACNA1H | 840-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M764R - 20129283) |
CACNA1H | 848-G | Epilepsy - Epilepsy, childhood absence (p.G848S - 12891677) | 9 | SCN5A NM_198056 | Long QT syndrome (p.D772N - 19716085) |
CACNA1H | 849-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P773S - 20129283) |
CACNA1H | 855-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q779K - 20541041) |
CACNA1H | 865-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.V789I - 20129283) |
CACNA1H | 868-S | None | 6 | SCN1A AB093548 | Dravet syndrome (p.S843R - 18930999/18930999) |
CACNA1H | 876-A | Epilepsy - Idiopathic epilepsy, generalised (p.A876T - 17696120) | 6 | ||
CACNA1H | 878-G | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E853K - 17054684) |
CACNA1H | 882-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
CACNA1H | 883-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L823R - 19800314) |
CACNA1H | 884-R | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R859C - 16525050) |
SCN5A NM_198056 | Long QT syndrome (p.R808P - 19862833) | ||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) | ||||
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | ||||
CACNA1H | 886-F | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
CACNA1H | 887-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
CACNA1H | 890-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R814Q - 17442746) Cardiomyopathy, dilated (p.R814W - 15671429) |
SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) | ||||
CACNA1H | 892-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F816Y - 19716085) |
CACNA1H | 894-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
CACNA1H | 900-A | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094) |
CACNA1H | 902-R | Other Disease Phenotype - Autism spectrum disorder ? (p.R902W - 16754686) | 9 | ||
CACNA1H | 904-Q | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
CACNA1H | 908-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.I848T - 14985375) |
SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) | ||||
CACNA1H | 909-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G833R - 19862833) |
CACNA1H | 911-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S835L - 15277732) |
CACNA1H | 915-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L839P - 16426410) |
CACNA1H | 916-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G840R - 19862833) |
CACNA1H | 918-F | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) |
SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) | ||||
CACNA1H | 919-C | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T843A - 16244680) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) | ||||
CACNA1H | 920-T | Probably Benign - (p.T920M - rs59052554) | 9 | ||
CACNA1H | 921-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V896L - 18930999) |
CACNA1H | 923-M | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.A863P - 17135418) |
CACNA1H | 924-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.I848F - 19716085) | ||||
CACNA1H | 926-I | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V892I - 15048894) |
CACNA1H | 927-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F902C - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.F851L - 11901046/20129283) | ||||
CACNA1H | 932-L | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.V872G - 19162012) |
CACNA1H | 933-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
CACNA1H | 939-C | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
CACNA1H | 943-L | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.E867Q - 20129283) |
CACNA1H | 950-T | None | 4 | SCN1A AB093548 | Dravet syndrome (p.C927F - 18930999) |
CACNA1H | 954-R | None | 8 | SCN9A NM_002977 | Congenital indifference to pain (p.R896Q - 20635406) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R931C - 12083760) | ||||
SCN5A NM_198056 | Brugada syndrome (p.R878C - HGOL, p.R878H - 20129283) | ||||
CACNA1H | 957-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421) |
CACNA1H | 958-D | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) |
CACNA1H | 962-W | Other Disease Phenotype - Autism spectrum disorder ? (p.W962C - 16754686) | 9 | SCN1A AB093548 | Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708) |
SCN5A NM_198056 | Brugada syndrome (p.H886P - 20129283) | ||||
CACNA1H | 965-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L942P - 17054684) |
CACNA1H | 966-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I943N - 18930999) |
CACNA1H | 967-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) |
CACNA1H | 968-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F945L - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.F892I - 11901046) | ||||
CACNA1H | 969-Q | None | 9 | SCN1A AB093548 | Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) |
SCN5A NM_198056 | Brugada syndrome (p.R893C - 20129283, p.R893H - 20129283) | ||||
CACNA1H | 972-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.C896S - 11901046) | ||||
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) | ||||
CACNA1H | 973-Q | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G950E - 17347258) |
CACNA1H | 976-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W952G - 18554359) |
CACNA1H | 978-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E901K - 20129283) |
CACNA1H | 981-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W957L - 17561957) |
CACNA1H | 983-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C959R - 12754708) |
CACNA1H | 984-M | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M960V - 12566275) |
CACNA1H | 987-T | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.S910L - 11901046) |
CACNA1H | 991-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C915R - 20129283) |
CACNA1H | 993-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L917R - 20129283) |
CACNA1H | 994-Y | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
CACNA1H | 996-V | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999) |
CACNA1H | 999-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) |
CACNA1H | 1002-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G979R - 12566275) |
CACNA1H | 1003-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N927S - 16764707) |
CACNA1H | 1004-Y | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L928P - 20129283) |
CACNA1H | 1005-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V982L - 19763161) |
CACNA1H | 1006-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V983A - 12566275) |
CACNA1H | 1008-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N985I - 12566275) |
CACNA1H | 1009-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211) |
CACNA1H | 1010-L | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
CACNA1H | 1011-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L935P - 20129283) |
CACNA1H | 1012-A | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
CACNA1H | 1013-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L990F - 18076640) |
CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) | ||||
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | ||||
CACNA1H | 1015-V | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
CACNA1H | 1016-E | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
CACNA1H | 1017-G | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
CACNA1H | 1021-E | None | 5 | SCN1A AB093548 | Dravet syndrome (p.D998G - 18930999) |
CACNA1H | 1035-S | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.N1001K - 16417554) |
CACNA1H | 1036-V | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1011I - 12566275) |
CACNA1H | 1037-H | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1003I - 15048894) |
CACNA1H | 1038-F | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q960K - 19716085) |
CACNA1H | 1039-E | Probably Benign - (p.E1039K - rs140421233) | 3 | ||
CACNA1H | 1044-K | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R965C - 11901046, p.R965H - 16764707) Long QT syndrome (p.R965L - 19716085) |
CACNA1H | 1046-R | None | 3 | SCN5A NM_198056 | Sudden adult death syndrome (p.C982R - 16712702) |
CACNA1H | 1049-Q | Probably Benign - (p.Q1049H - rs61642542) | 1 | ||
CACNA1H | 1059-A | Benign - (p.A1059S - rs41292285) | 2 | ||
CACNA1H | 1064-G | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A997T - 20129283) Sudden infant death syndrome (p.A997S - 11710892) |
CACNA1H | 1065-H | None | 2 | CACNA1A X99897 | Episodic ataxia 2 (p.M798T - 20129625) |
CACNA1H | 1069-R | Benign - (p.R1069Q - rs57633676) | 2 | ||
CACNA1H | 1071-S | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.C1004R - 19716085) |
CACNA1H | 1072-L | None | 2 | SCN5A NM_198056 | Cardiac conduction disease (p.P1008S - 20025708) |
CACNA1H | 1081-A | Probably Benign - (p.A1081G - rs140745132) | 2 | ||
CACNA1H | 1089-K | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
CACNA1H | 1093-F | None | 2 | SCN1A AB093548 | Dravet syndrome (p.E1068K - 18930999) |
CACNA1H | 1098-P | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.R1023H - 16344400) |
CACNA1H | 1111-G | Probably Benign - (p.G1111R - rs59529743) | 1 | ||
CACNA1H | 1124-L | None | 1 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A1089S - 17397049) |
CACNA1H | 1156-R | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
CACNA1H | 1164-E | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E1053K - 11901046) |
CACNA1H | 1166-L | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.D1055G - 20129283) |
CACNA1H | 1170-E | Epilepsy - Idiopathic epilepsy, generalised (p.E1170K - 17696120) | 2 | ||
CACNA1H | 1176-D | Probably Benign - (p.D1176N - rs61294616) | 1 | ||
CACNA1H | 1205-R | Probably Benign - (p.R1205Q - rs58594334) | 1 | ||
CACNA1H | 1208-A | Probably Benign - (p.A1208T - rs58394372) | 3 | ||
CACNA1H | 1210-P | Probably Benign - (p.P1210L - rs61319429) | 2 | ||
CACNA1H | 1214-C | None | 2 | SCN5A NM_198056 | Atrial fibrillation ? (p.T1131I - 18378609) |
CACNA1H | 1222-V | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E1138A - 19862833) |
CACNA1H | 1224-L | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.S1140T - 20129283) |
CACNA1H | 1230-L | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.L1123F - 19763161) |
CACNA1H | 1242-L | Probably Benign - (p.L1242F - rs141431881) | 1 | ||
CACNA1H | 1243-D | None | 1 | SCN1A AB093548 | Hemiplegic migraine (p.T1174S - 18021921) |
CACNA1H | 1248-D | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.D1166N - 19716085) |
CACNA1H | 1264-Q | Epilepsy - Epilepsy, childhood absence (p.Q1264H - 17696120) | 2 | ||
CACNA1H | 1268-S | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1175C - HGOL) |
CACNA1H | 1273-A | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.A1180V - 19808398) |
CACNA1H | 1277-F | None | 4 | SCN9A NM_002977 | Dravet syndrome ? (p.E1160Q - 19763161) |
CACNA1H | 1280-Q | None | 6 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445) |
CACNA1H | 1282-R | None | 8 | SCN5A NM_198056 | Sudden unexplained nocturnal death syndrome (p.R1193Q - 11823453) |
CACNA1H | 1283-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1207P - 18413471) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) | ||||
CACNA1H | 1284-R | None | 9 | SCN5A NM_198056 | Ventricular tachycardia (p.R1195H - 19632629) |
CACNA1H | 1286-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1210K - 19350499) |
CACNA1H | 1288-Q | Probably Benign - (p.Q1288L - rs114169979) | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1199S - 19716085) |
CACNA1H | 1295-M | None | 9 | SCN5A NM_198056 | Sudden cardiac death (p.W1206C - 18071069) |
CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) | ||||
CACNA1H | 1297-D | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.E1211K - 19786696) |
CACNA1H | 1307-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) |
CACNA1H | 1308-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1219N - 20129283) |
CACNA1H | 1309-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1233R - 12821740) |
CACNA1H | 1314-E | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1238D - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.E1225K - 12106943) | ||||
CACNA1H | 1315-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) |
CACNA1H | 1317-D | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.Y1228H - 20129283) |
CACNA1H | 1320-P | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.E1231K - 15840476) |
CACNA1H | 1321-G | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1245Q - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.R1232Q - 20129283) Ventricular fibrillation, idiopathic ? (p.R1232W - 9521325) | ||||
CACNA1H | 1325-R | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) |
SCN5A NM_198056 | Brugada syndrome (p.K1236N - 11901046) Brugada syndrome ? (p.K1236R - 21126620) | ||||
CACNA1H | 1326-V | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081) |
CACNA1H | 1328-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1239P - 20129283) |
CACNA1H | 1329-S | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1240Q - 11901046) |
CACNA1H | 1330-V | Probably Benign - (p.V1330I - rs28365125) | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1241S - 19862833) |
CACNA1H | 1331-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1255D - 18930999) |
CACNA1H | 1332-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1243N - 20129283) |
CACNA1H | 1336-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1260P - 20431604) |
CACNA1H | 1338-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1249D - 20129283) |
CACNA1H | 1339-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1263L - 12566275) |
SCN5A NM_198056 | Long QT syndrome, drug-associated (p.F1250L - 11997281) | ||||
CACNA1H | 1341-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1265P - 12083760) |
CACNA1H | 1342-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1253G - 20129283) |
CACNA1H | 1346-K | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608) |
CACNA1H | 1350-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) |
CACNA1H | 1351-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1275V - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1262S - 15338453) | ||||
CACNA1H | 1352-L | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
CACNA1H | 1364-W | None | 9 | SCN1A AB093548 | Dravet syndrome (p.W1284S - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.W1271C - 20129283) | ||||
CACNA1H | 1367-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1287P - 20431604) |
CACNA1H | 1368-D | None | 9 | SCN5A NM_198056 | Atrial standstill (p.D1275N - 12522116) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) | ||||
CACNA1H | 1371-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1278N - 19841300) |
CACNA1H | 1372-V | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
CACNA1H | 1374-V | None | 9 | SCN5A NM_198056 | Brugada syndrome ? (p.V1281F - 21126620) |
CACNA1H | 1376-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1283M - 19716085) |
CACNA1H | 1381-V | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.A1288G - 20129283) |
CACNA1H | 1387-G | None | 7 | SCN9A NM_002977 | Dravet syndrome ? (p.L1267V - 19763161) |
CACNA1H | 1388-G | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
CACNA1H | 1389-A | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.F1293S - 11901046) |
CACNA1H | 1391-I | None | 8 | SCN1A AB093548 | Febrile seizures (p.E1308D - 19522081) |
SCN5A NM_198056 | Long QT syndrome (p.E1295K - 11304498) | ||||
CACNA1H | 1392-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752) |
CACNA1H | 1394-V | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.P1298L - 14523039) |
CACNA1H | 1399-R | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R1316S - 18930999) |
SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) | ||||
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | ||||
CACNA1H | 1400-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1304M - 10508990) |
CACNA1H | 1402-R | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) | ||||
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | ||||
CACNA1H | 1404-L | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.L1308F - 18599870) |
CACNA1H | 1405-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1312T - 19783390) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) | ||||
CACNA1H | 1407-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1311P - 20129283) |
CACNA1H | 1409-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318) |
CACNA1H | 1411-S | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S1328P - 18930999) |
CACNA1H | 1412-R | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1319Q - 15048894) |
CACNA1H | 1415-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1319V - 12106943) |
CACNA1H | 1418-L | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1335M - 18413471) | ||||
CACNA1H | 1419-V | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1299F - 17145499) |
SCN5A NM_198056 | Brugada syndrome (p.V1323G - 20129283) | ||||
CACNA1H | 1420-V | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
CACNA1H | 1421-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1325S - 8541846) |
CACNA1H | 1422-T | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1326S - 19716085) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) | ||||
CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) | ||||
CACNA1H | 1423-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1330F - 12243921) |
CACNA1H | 1425-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G1329S - 21216356) |
CACNA1H | 1426-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1330P - 11535573, p.A1330T - 12566525) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) | ||||
CACNA1H | 1428-R | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.P1308L - 20429905) |
SCN5A NM_198056 | Long QT syndrome (p.P1332L - 14676229) | ||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) | ||||
CACNA1H | 1429-P | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1333Y - 16922724) |
CACNA1H | 1430-I | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1334V - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) | ||||
CACNA1H | 1434-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1338V - 19716085) |
CACNA1H | 1436-I | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444) |
SCN5A NM_198056 | Brugada syndrome (p.V1340I - 20129283) | ||||
CACNA1H | 1437-C | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
CACNA1H | 1438-C | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1355P - 14738421) |
CACNA1H | 1440-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1344L - 20129283, p.F1344S - 16616735) |
CACNA1H | 1441-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1358S - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.W1345C - 20339501) | ||||
CACNA1H | 1442-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1346I - 20129283, p.L1346P - 20129283) |
CACNA1H | 1446-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1350T - 12845244) |
CACNA1H | 1447-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M1351R - 20129283) |
CACNA1H | 1448-G | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
CACNA1H | 1449-V | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202) |
SCN5A NM_198056 | Brugada syndrome (p.V1353M - 20129283) | ||||
CACNA1H | 1450-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N1367K - 18930999) |
CACNA1H | 1454-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1358W - 20129283) |
CACNA1H | 1455-K | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1359N - 20129283) |
CACNA1H | 1456-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1360C - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) | ||||
CACNA1H | 1459-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1363Y - 16764707) |
CACNA1H | 1463-D | Epilepsy - Epilepsy, childhood absence (p.D1463N - 12891677) | 8 | ||
CACNA1H | 1467-I | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1390M - 12083760) |
CACNA1H | 1468-S | None | 5 | SCN1A AB093548 | Dravet syndrome (p.N1391S - 18930999) |
CACNA1H | 1469-T | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.N1380K - HGOL) |
CACNA1H | 1470-K | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.H1393P - 17129991) |
CACNA1H | 1471-A | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.S1382I - 12106943) |
CACNA1H | 1472-Q | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1395Y - 21114141) |
CACNA1H | 1473-C | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1396G - 17347258) |
CACNA1H | 1474-R | Probably Benign - (p.R1474W - rs57105517) | 4 | ||
CACNA1H | 1478-Y | None | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
CACNA1H | 1486-N | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1414Y - 17561957) |
CACNA1H | 1488-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1416G - 18930999) |
CACNA1H | 1490-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1405L - 12106943, p.V1405M - 20129283) |
CACNA1H | 1491-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1406R - 12106943, p.G1406E - 20129283) |
CACNA1H | 1492-Q | Probably Benign - (p.Q1492K - rs58786225) | 9 | ||
CACNA1H | 1493-A | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1408R - 11748104) |
CACNA1H | 1494-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1422C - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.Y1409C - 20129283) | ||||
CACNA1H | 1497-L | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1412F - 20129283) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) | ||||
CACNA1H | 1498-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1426R - 17054684) |
CACNA1H | 1500-L | None | 9 | SCN1A AB093548 | Febrile seizures (p.V1428A - 11524484) |
CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) | ||||
CACNA1H | 1503-K | None | 9 | SCN1A AB093548 | Dravet syndrome (p.F1431I - 18930999) |
CACNA1H | 1504-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1419E - 20129283) |
CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.E1115K - 20817017) | ||||
CACNA1H | 1505-G | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359) |
SCN5A NM_198056 | Brugada syndrome (p.G1420R - 20129283) Brugada syndrome ? (p.G1420V - 21126620) | ||||
CACNA1H | 1506-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1434R - 12083760) |
CACNA1H | 1509-I | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1437M - 18930999) |
CACNA1H | 1512-D | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1427S - 20129283) |
CACNA1H | 1513-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1441P - 17347258) |
SCN5A NM_198056 | Brugada syndrome (p.A1428V - 20129283) | ||||
CACNA1H | 1517-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1432G - 10727653) Long QT syndrome (p.R1432S - 19716085) |
CACNA1H | 1518-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1433V - 20129283) |
CACNA1H | 1522-Q | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760) |
CACNA1H | 1523-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1451L - 17054684) |
SCN5A NM_198056 | Brugada syndrome (p.P1438L - 18156160) | ||||
CACNA1H | 1526-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1441Q - 20129283) |
CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) | ||||
CACNA1H | 1533-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1461I - 12821740) |
SCN5A NM_198056 | Brugada syndrome (p.I1448L - 20129283, p.I1448T - 20129283) | ||||
CACNA1H | 1534-Y | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1462C - 18413471) |
SCN5A NM_198056 | Brugada syndrome (p.Y1449C - 20129283) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) | ||||
CACNA1H | 1535-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1463S - 12821740) |
CACNA1H | 1536-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1451D - 20129283) |
CACNA1H | 1537-S | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
CACNA1H | 1542-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1470W - 17561957) |
CACNA1H | 1543-S | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1458Y - 15840476) |
CACNA1H | 1547-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1475S - 17054684) |
CACNA1H | 1548-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1463Y - 20129283) |
CACNA1H | 1550-F | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
CACNA1H | 1552-G | None | 9 | SCN1A AB093548 | Myoclonic-astatic epilepsy (p.G1480V - 17347258) |
CACNA1H | 1553-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1468F - 20129283) |
SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) | ||||
CACNA1H | 1555-V | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.I1473M - 19786696) |
CACNA1H | 1556-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1484G - 18930999) |
CACNA1H | 1557-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1472S - 19716085) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) | ||||
CACNA1H | 1558-F | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.F1449V - 15958509) |
SCN5A NM_198056 | Long QT syndrome (p.F1473C - 18060054, p.F1473S - 20339117) | ||||
CACNA1H | 1561-C | None | 7 | SCN1A AB093548 | Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696) |
CACNA1H | 1563-Q | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
CACNA1H | 1566-E | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G1481E - 15840476) |
SCN4A NM_000334 | Myotonia (p.G1306A - 8308722, p.G1306E - 8308722) Paramyotonia congenita (p.G1306V - 1310898) | ||||
CACNA1H | 1570-A | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.I1461T - 17145499) |
CACNA1H | 1571-R | Probably Benign - (p.R1571W - rs58725680) | 6 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.F1462V - 17145499) |
SCN1A AB093548 | Hemiplegic migraine 2 (p.F1499L - 19332696) | ||||
SCN5A NM_198056 | Sudden adult death syndrome (p.F1486L - 17210839) | ||||
CACNA1H | 1572-R | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.M1487L - 19716085) |
CACNA1H | 1573-R | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.T1464I - 17145499) |
SCN5A NM_198056 | Long QT syndrome (p.T1488R - 19716085) | ||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) | ||||
CACNA1H | 1574-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1489D - 19716085) |
CACNA1H | 1575-E | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1503K - 19783390) |
CACNA1H | 1578-L | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
CACNA1H | 1579-R | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.M1498T - 16414944, p.M1498V - 19716085) |
CACNA1H | 1585-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.G1502S - 12106943) |
CACNA1H | 1595-Q | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.K1505N - 19716085) |
CACNA1H | 1601-A | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.R1512W - 10690282) |
CACNA1H | 1606-T | Probably Benign - (p.T1606M - rs59286323) | 6 | ||
CACNA1H | 1610-I | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1521K - 20129283) |
CACNA1H | 1614-C | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1538I - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.V1525M - 20129283) | ||||
CACNA1H | 1615-T | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1539P - 18076640) |
CACNA1H | 1619-L | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.F1543S - 17347258) |
CACNA1H | 1620-D | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1544A - 18930999) |
CACNA1H | 1621-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1545V - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.V1532I - 19716085) | ||||
CACNA1H | 1624-T | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
CACNA1H | 1627-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
CACNA1H | 1634-M | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
CACNA1H | 1635-S | Probably Benign - (p.S1635F - rs58146518) | 9 | ||
CACNA1H | 1637-E | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E1561K - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.E1548K - 20129283) | ||||
CACNA1H | 1642-P | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1553R - 21321465) |
CACNA1H | 1649-L | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1563V - 12243921) |
SCN5A NM_198056 | Long QT syndrome (p.L1560F - 19716085) | ||||
CACNA1H | 1651-Y | None | 9 | SCN9A NM_002977 | Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) |
SCN1A AB093548 | Rasmussen encephalitis (p.R1575C - 18031552) | ||||
CACNA1H | 1655-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1579E - 18930999) |
CACNA1H | 1657-T | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
CACNA1H | 1660-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1571C - 20129283) |
CACNA1H | 1662-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1586E - 18930999) |
CACNA1H | 1663-E | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1574K - 19808440) |
CACNA1H | 1664-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1588R - 17561957) |
CACNA1H | 1671-F | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1582P - 19843921) |
CACNA1H | 1672-G | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.R1583C - 20129283, p.R1583H - 20129283) | ||||
CACNA1H | 1675-R | Probably Benign - (p.R1675Q - rs149367557) | 9 | ||
CACNA1H | 1679-D | Probably Benign - (p.D1679N - rs60087479) | 9 | ||
CACNA1H | 1683-Q | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.I1596S - 17386050) |
SCN5A NM_198056 | Long QT syndrome (p.I1593M - 19716085) | ||||
CACNA1H | 1684-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1594S - 19716085) |
SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) | ||||
CACNA1H | 1685-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1608Y - 17561957) |
SCN5A NM_198056 | Atrioventricular conduction block (p.D1595N - 11804990) Cardiomyopathy, dilated (p.D1595H - 15671429) | ||||
CACNA1H | 1686-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1596I - 19716085) |
CACNA1H | 1687-A | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1597M - 19862833) |
CACNA1H | 1688-I | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1611F - 12566275) |
CACNA1H | 1689-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1612I - 18930999) |
CACNA1H | 1692-S | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
CACNA1H | 1693-L | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) |
CACNA1H | 1694-M | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1604M - 20129283) |
CACNA1H | 1698-L | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
CACNA1H | 1699-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1609W - 16922724) |
CACNA1H | 1701-I | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
CACNA1H | 1703-M | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.Q1613L - 20129283) |
CACNA1H | 1705-A | Probably Benign - (p.A1705T - rs148651456) | 2 | ||
CACNA1H | 1709-I | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1630M - 17561957) |
SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) | ||||
CACNA1H | 1711-P | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1632S - 12566275) |
CACNA1H | 1712-T | None | 7 | SCN5A NM_198056 | Cardiac conduction disease (p.T1620K - 18065446) Ventricular fibrillation, idiopathic (p.T1620M - 9521325) |
CACNA1H | 1715-R | None | 6 | SCN1A AB093548 | Lennox-Gastaut syndrome (p.R1636Q - 17347258) |
SCN5A NM_198056 | Long QT syndrome (p.R1623Q - 9506831, p.R1623L - 10973849) | ||||
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | ||||
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | ||||
CACNA1H | 1716-I | None | 6 | SCN1A AB093548 | Hepatic coma (p.V1637E - 20392657) |
CACNA1H | 1718-R | None | 6 | SCN1A AB093548 | Dravet syndrome (p.R1639G - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.R1626H - 18752142, p.R1626P - 10961955) | ||||
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | ||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) | ||||
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | ||||
CACNA1H | 1721-R | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.R1629Q - 20129283, p.R1629G - 19843921) |
CACNA1H | 1723-A | None | 7 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.G1607R - 21079636) |
SCN5A NM_198056 | Long QT syndrome, malignant perinatal variant (p.G1631D - 19808432) | ||||
SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) | ||||
CACNA1H | 1724-R | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1645Q - 17347258) |
SCN5A NM_198056 | Nodal rhythm (p.R1632H - 14523039) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) | ||||
CACNA1H | 1725-V | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
CACNA1H | 1727-K | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760) |
CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) | ||||
CACNA1H | 1728-L | None | 9 | SCN1A AB093548 | Hemiplegic migraine (p.L1649Q - 17397047) |
CACNA1H | 1734-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1642E - 20129283) |
CACNA1H | 1735-M | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444) |
CACNA1H | 1736-R | Probably Benign - (p.R1736P - rs3889063) | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992) |
SCN5A NM_198056 | Brugada syndrome (p.R1644C - 16344400) Long QT syndrome (p.R1644H - 8541846) | ||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) | ||||
CACNA1H | 1737-A | Probably Benign - (p.A1737T - rs61372944) | 9 | SCN1A AB093548 | Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957) |
SCN5A NM_198056 | Long QT syndrome (p.T1645M - 10508990) | ||||
CACNA1H | 1740-D | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1661S - 12754708) |
SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) | ||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) | ||||
CACNA1H | 1741-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1649V - 17081365) |
CACNA1H | 1742-V | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1650F - 19716085) |
CACNA1H | 1743-V | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.M1627K - 17145499) |
SCN1A AB093548 | Dravet syndrome (p.M1664K - 18930999) | ||||
SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) | ||||
CACNA1H | 1744-Q | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1652R - 17698727, p.M1652T - 19716085) |
CACNA1H | 1747-P | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1668A - 12821740) |
CACNA1H | 1748-Q | None | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) |
SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) | ||||
CACNA1H | 1752-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1660V - 16414944) |
CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) | ||||
CACNA1H | 1753-G | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1674R - 12083760) |
SCN5A NM_198056 | Brugada syndrome (p.G1661R - 20129283/20129283) | ||||
CACNA1H | 1754-L | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1675R - 18930999) |
CACNA1H | 1756-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1677F - 18930999) |
CACNA1H | 1759-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1667I - 11274952) |
CACNA1H | 1762-I | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
CACNA1H | 1764-A | None | 9 | SCN1A AB093548 | Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275) |
SCN5A NM_198056 | Brugada syndrome (p.S1672Y - 20129283) | ||||
CACNA1H | 1766-L | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1687S - 17561957) |
CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) | ||||
CACNA1H | 1771-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1692S - 14738421) |
CACNA1H | 1772-G | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.A1680T - 16712702) |
CACNA1H | 1773-R | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1694C - 14738421) |
CACNA1H | 1788-H | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
CACNA1H | 1791-F | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1707V - 17347258) |
CACNA1H | 1793-N | Probably Benign - (p.N1793S - rs72552051) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1709I - 12566275) |
CACNA1H | 1795-G | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1698T - 20129283) |
CACNA1H | 1797-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1713N - 16122630) |
CACNA1H | 1798-F | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684) |
CACNA1H | 1800-T | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1716R - 17561957) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) | ||||
CACNA1H | 1802-F | None | 9 | SCN5A NM_198056 | Sudden infant death syndrome (p.F1705S - 18596570) |
CACNA1H | 1803-R | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q1706H - 21321465) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) | ||||
CACNA1H | 1805-S | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1721R - 17347258) |
CACNA1H | 1806-T | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T1709R - 20129283, p.T1709M - 17697823) |
CACNA1H | 1807-G | None | 9 | SCN5A NM_198056 | Ventricular fibrillation, idiopathic (p.S1710L - 10940383) |
CACNA1H | 1808-D | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
CACNA1H | 1809-N | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1725C - 18930999) |
SCN5A NM_198056 | Brugada syndrome (p.G1712S - 20129283) | ||||
CACNA1H | 1810-W | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1726R - 17347258) |
CACNA1H | 1811-N | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1714G - 16266370) |
CACNA1H | 1819-R | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.N1722D - 20031634) |
CACNA1H | 1820-E | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1723N - 19716085) |
CACNA1H | 1821-C | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1728R - 20129283, p.C1728W - 20129283) |
CACNA1H | 1822-S | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566) |
CACNA1H | 1823-R | Probably Benign - (p.R1823C - rs60760436) | 8 | ||
CACNA1H | 1827-H | Benign - (p.H1827Y - rs77104261) | 5 | ||
CACNA1H | 1831-Y | None | 5 | SCN9A NM_002977 | Congenital indifference to pain (p.C1719R - 20692858) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1756G - 19563458) | ||||
CACNA1H | 1832-L | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G1743E - 12106943) Brugada syndrome ? (p.G1743R - 12639704) |
CACNA1H | 1833-P | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
CACNA1H | 1834-A | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.A1746T - 20541041) |
CACNA1H | 1835-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1747M - 20541041) |
CACNA1H | 1836-S | None | 9 | SCN1A AB093548 | Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684) |
CACNA1H | 1839-Y | None | 9 | SCN1A AB093548 | Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) |
CACNA1H | 1843-F | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) |
CACNA1H | 1845-L | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) |
CACNA1H | 1847-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1773F - 17054684) |
CACNA1H | 1849-F | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1761H - 19716085, p.L1761F - 19716085) |
CACNA1H | 1851-L | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1763M - 15485686) |
SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) | ||||
CACNA1H | 1852-V | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1764F - 19808440) |
CACNA1H | 1854-V | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M1780T - 12821740) |
SCN5A NM_198056 | Long QT syndrome (p.M1766L - 12123767) | ||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | ||||
CACNA1H | 1855-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421) |
SCN5A NM_198056 | Long QT syndrome (p.Y1767C - 16414944) | ||||
CACNA1H | 1856-V | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) |
SCN5A NM_198056 | Long QT syndrome (p.I1768V - 12566525) | ||||
CACNA1H | 1857-A | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) |
CACNA1H | 1859-L | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
CACNA1H | 1860-M | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1772V - 19996378) |
CACNA1H | 1861-K | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1787K - 17561957) |
CACNA1H | 1862-H | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1774S - 16038262) Long QT syndrome (p.N1774D - 19996378) |
CACNA1H | 1865-E | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1777M - 11463728) |
CACNA1H | 1867-N | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1779M - 15840476) |
CACNA1H | 1869-E | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615) |
CACNA1H | 1871-R | Benign - (p.R1871Q - rs58124832) | 9 | ||
CACNA1H | 1872-E | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.E1784K - 10377081) |
CACNA1H | 1874-A | Other Disease Phenotype - Autism spectrum disorder ? (p.A1874V - 16754686) | 8 | ||
CACNA1H | 1875-E | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.D1790G - 9686753) |
CACNA1H | 1879-E | None | 8 | SCN1A AB093548 | Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275) |
CACNA1H | 1880-I | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.Y1795H - 11410597) Long QT syndrome (p.Y1795C - 11410597) |
CACNA1H | 1883-E | None | 8 | SCN1A AB093548 | Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275) |
CACNA1H | 1892-R | Benign - (p.R1892L - rs58667649) | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
CACNA1H | 1895-D | Probably Benign - (p.D1895H - rs151178417) | 9 | ||
CACNA1H | 1896-A | Probably Benign - (p.A1896V - rs139080716) | 8 | ||
CACNA1H | 1900-P | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.P1824A - 20541041) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) | ||||
CACNA1H | 1901-L | None | 8 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L1825P - 12208804) |
CACNA1H | 1902-P | None | 7 | SCN5A NM_198056 | Atrial fibrillation ? (p.R1826C - 18378609) Sudden infant death syndrome (p.R1826H - 11710892) |
CACNA1H | 1907-G | None | 4 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C1499R - 12111638) |
CACNA1A X99897 | Episodic ataxia 2 (p.C1870R - 20129625) | ||||
CACNA1H | 1908-A | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.Q1832E - HGOL) |
CACNA1H | 1910-D | Benign - (p.D1910E - rs2745136) | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1839G - 19716085) |
CACNA1H | 1913-N | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640) |
CACNA1H | 1918-K | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.V1861I - 20129283) |
CACNA1H | 1921-V | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.M1875T - 18929244) |
CACNA1H | 1922-S | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
CACNA1H | 1925-L | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
CACNA1H | 1933-M | Probably Benign - (p.M1933V - rs59950911) | 0 | ||
CACNA1H | 1937-V | Probably Benign - (p.V1937L - rs60040113) | 4 | ||
CACNA1H | 1940-A | Benign - (p.A1940P - rs61742096) | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1909I - 12083760) |
CACNA1H | 1942-A | Probably Benign - (p.A1942V - rs72552053) | 4 | SCN5A NM_198056 | Long QT syndrome (p.R1897W - 19716085) |
CACNA1H | 1943-P | None | 4 | SCN2A NM_021007 | Autism ? (p.R1902C - 12610651) |
CACNA1H | 1946-R | Probably Benign - (p.R1946C - rs57429153) | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1901Q - 19716085) |
CACNA1H | 1947-P | Benign - (p.P1947L - rs59935412) | 5 | ||
CACNA1H | 1952-E | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1922T - 17347258) |
CACNA1H | 1953-M | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.Q1909R - 15840476) |
CACNA1H | 1958-A | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) |
SCN5A NM_198056 | Long QT syndrome (p.R1913H - 16414944) | ||||
CACNA1H | 1959-G | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1928G - 18413471) |
CACNA1H | 1966-A | Probably Benign - (p.A1966V - rs72552054) | 3 | ||
CACNA1H | 1969-H | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A1924T - 10690282) |
CACNA1H | 1974-E | Benign - (p.E1974G - rs3751886) | 2 | ||
CACNA1H | 1987-S | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G1935S - 16267250) |
CACNA1H | 1989-A | Probably Benign - (p.A1989G - rs72552055) | 1 | SCN1A AB093548 | Autism ? (p.I1955T - 12610651) |
CACNA1H | 1991-S | None | 2 | SCN5A NM_198056 | Atrial fibrillation (p.V1951M - 18378609) Brugada syndrome (p.V1951L - 11901046) |
CACNA1H | 2005-R | Benign - (p.R2005C - rs72552056) | 2 | ||
CACNA1H | 2026-G | Probably Benign - (p.G2026E - rs61577678) | 1 | ||
CACNA1H | 2069-T | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.S1964F - 21126620) |
CACNA1H | 2077-R | Benign - (p.R2077H - rs1054645) | 0 | ||
CACNA1H | 2087-G | None | 1 | CACNA1A X99897 | Episodic ataxia 2 ? (p.R2091Q - 20663518) |
CACNA1H | 2108-A | Probably Benign - (p.A2108T - rs56930660) | 0 | ||
CACNA1H | 2138-V | Probably Benign - (p.V2138E - rs57435250) | 2 | ||
CACNA1H | 2140-A | Probably Benign - (p.A2140T - rs59487037) | 2 | ||
CACNA1H | 2162-S | Probably Benign - (p.S2162R - rs113962757) | 1 | ||
CACNA1H | 2208-A | Probably Benign - (p.A2208T - rs60445853) | 2 | ||
CACNA1H | 2209-A | Probably Benign - (p.A2209P - rs59103647) | 2 | ||
CACNA1H | 2218-R | Probably Benign - (p.R2218H - rs56885166) | 0 | ||
CACNA1H | 2283-D | Probably Benign - (p.D2283V - rs58597457) | 2 | ||
CACNA1H | 2293-R | None | 3 | CACNA1F NM_005183 | MRX (R/H - Tarpey 2009) |
CACNA1H | 2312-M | Probably Benign - (p.M2312V - rs58535913) | 2 | ||
CACNA1H | 2343-P | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.F2004L - 18456723) Long QT syndrome (p.F2004V - 19716085) |
CACNA1H | 2344-A | None | 2 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.P2005A - 19412328) |
CACNA1H | 2346-G | None | 3 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.D2130N - 20817017) |
CACNA1H | 2349-A | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R2012C - 19716085) |
CACNA1H | 2353-V | Probably Benign - (p.V2353M - rs150601404) | 4 | ||
KCNJ10 (paralogue of LQTS gene KCNJ2) | View alignment | ||||
Gene | Residue | Known Variants in KCNJ10 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
KCNJ10 | 3-S | Probably Benign - (p.S3P - rs72704720) | 3 | ||
KCNJ10 | 4-V | Probably Benign - (p.V4I - rs144428351) | 2 | ||
KCNJ10 | 18-R | Benign - (p.R18W - rs138457635) | 2 | ||
KCNJ10 | 29-R | None | 8 | KCNJ11 NM_000525 | Diabetes, neonatal (p.R34C - 17446535) Hypoglycaemia, persistent hyperinsulinaemic (p.R34H - 15807877) |
KCNJ10 | 30-V | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.F35L - 15448107, p.F35V - 15448106) |
KCNJ10 | 33-K | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.K45E - 18172829) |
KCNJ10 | 35-G | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.G40D - 16357843) |
KCNJ10 | 37-S | None | 9 | KCNJ2 NM_000891 | Periodic paralysis (p.C54F - 19201608) |
KCNJ1 NM_000220 | Bartter syndrome (p.C49Y - 10611379) | ||||
KCNJ11 NM_000525 | Diabetes mellitus (p.C42R - 15784703) | ||||
KCNJ10 | 39-V | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.I51T - 10611379) |
KCNJ10 | 41-M | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F53C - 19096086) |
KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.H46L - 17475937, p.H46Y - 16609879) | ||||
KCNJ10 | 43-H | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.N48D - 17021801) |
KCNJ10 | 45-A | None | 6 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.R50Q - 16609879, p.R50G - 17635943, p.R50P - 15580558) |
KCNJ10 | 46-D | Probably Benign - (p.D46N - rs141553756) | 4 | ||
KCNJ10 | 48-R | None | 4 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.Q52R - 15115830) |
KCNJ10 | 49-F | None | 6 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.G53D - 15448107) Diabetes, transient neonatal (p.G53R - 15718250, p.G53S - 15718250, p.G53V - 20401705) |
KCNJ10 | 50-L | Probably Benign - (p.L50P - rs1130181) | 8 | KCNJ2 NM_000891 | Andersen syndrome (p.R67Q - 17221872, p.R67W - 12148092) |
KCNJ10 | 51-Y | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.Y68D - 16217063) |
KCNJ11 NM_000525 | Hyperinsulinism (p.F55L - 16332676) | ||||
KCNJ10 | 54-D | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.D71N - 12796536, p.D71V - 11371347) |
KCNJ10 | 55-L | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.V59A - 19139106) Diabetes, permanent neonatal (p.V59G - 15115830, p.V59M - 15115830) |
KCNJ10 | 56-W | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal with neurological symptoms (p.F60Y - 20022885) |
KCNJ10 | 57-T | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.T74A - 16541386) |
KCNJ10 | 58-T | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.T75R - 12796536, p.T75M - 16217063) Long QT syndrome (p.T75A - 15276028) |
KCNJ1 NM_000220 | Bartter syndrome (p.T71M - 12911542) | ||||
KCNJ10 | 59-F | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.V72E - 9002665) |
KCNJ10 | 61-D | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.D78G - 16217063) Andersen-Tawil syndrome (p.D78Y - 16419128) |
KCNJ1 NM_000220 | Bartter syndrome (p.D74Y - 9002665) | ||||
KCNJ10 | 63-Q | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.K67N - 12364426) |
KCNJ10 | 65-R | Epilepsy - Epilepsy, ataxia, sensorineural deafness and tubulopathy (p.R65P - 19420365) | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.R82Q - 16217063) Ventricular tachycardia (p.R82W - 16818210) |
KCNJ10 | 66-Y | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.Y79H - 12911542) |
KCNJ10 | 76-A | None | 9 | KCNJ2 NM_000891 | Atrial fibrillation (p.V93I - 15922306) |
KCNJ10 | 77-G | Epilepsy - Epilepsy, ataxia, sensorineural deafness and tubulopathy (p.G77R - 19420365) | 9 | ||
KCNJ10 | 80-F | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F93V - 20219833) |
KCNJ10 | 82-F | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F95S - 12911542) |
KCNJ10 | 83-G | Probably Benign - (p.G83V - rs17853258) | 9 | ||
KCNJ10 | 84-V | Probably Benign - (p.V84M - rs140646329) | 9 | KCNJ2 NM_000891 | Ventricular tachycardia (p.C101R - 15851159) |
KCNJ10 | 86-W | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.W99C - 9002665) |
KCNJ10 | 87-Y | None | 9 | KCNJ11 NM_000525 | Hypoglycaemia, persistent hyperinsulinaemic (p.W91R - 10204114) |
KCNJ10 | 90-A | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A103V - 11318951) |
KCNJ10 | 95-D | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.D108H - 9002665) |
KCNJ10 | 97-L | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.P110L - 9002665) |
KCNJ11 NM_000525 | Hyperinsulinism (p.A101D - 15562009) | ||||
KCNJ10 | 100-D | Probably Benign - (p.D100E - rs139069413) | 4 | ||
KCNJ10 | 109-V | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.V123G - 16217063) |
KCNJ1 NM_000220 | Bartter syndrome (p.V122E - 9002665) | ||||
KCNJ10 | 111-Q | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.N124K - 9727001) |
KCNJ10 | 114-T | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.S116P - 16357843) |
KCNJ10 | 122-S | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.S136F - 11371347) |
KCNJ10 | 126-Q | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.Q128R - 20685672) |
KCNJ10 | 128-T | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.T141I - 20219833) |
KCNJ10 | 129-I | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.I142T - 11318951) |
KCNJ10 | 130-G | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.G144A - 16541386, p.G144S - 11371347) Andersen-Tawil syndrome (p.G144D - 20382953) |
KCNJ10 | 132-G | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.G146D - 12796536, p.G146S - 17221872) Andersen-Tawil syndrome (p.G146A - 19931173) |
KCNJ11 NM_000525 | Hyperinsulinism (p.G134A - 14692646) | ||||
KCNJ10 | 134-R | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.R136C - 20685672, p.R136H - 20686794, p.R136L - 14715863) |
KCNJ10 | 137-S | None | 9 | KCNJ5 NM_000890 | Aldosteronism with bilateral adrenal hyperplasia (p.T158A - NO ID) |
KCNJ10 | 140-C | Other Disease Phenotype - SeSAME syndrome (p.C140R - 19289823, rs137853068) | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.C154F - 15831539) |
KCNJ10 | 143-A | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A156V - 9502574) |
KCNJ10 | 145-V | None | 9 | KCNJ11 NM_000525 | Hypoglycaemia, persistent hyperinsulinaemic (p.L147P - 8923010) |
KCNJ10 | 154-T | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.G167E - 9002665) |
KCNJ11 NM_000525 | Hyperinsulinism (p.G156R - 18596924) | ||||
KCNJ10 | 158-E | None | 9 | KCNJ2 NM_000891 | Short QT syndrome (p.D172N - 15761194) |
KCNJ10 | 162-T | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.L164P - 16609879) |
KCNJ10 | 164-T | Other Disease Phenotype - SeSAME syndrome (p.T164I - 19289823, rs137853069) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A177T - 12911542) |
KCNJ11 NM_000525 | Diabetes, neonatal (p.C166F - 16123337) Diabetes, permanent neonatal (p.C166Y - 16609879) | ||||
KCNJ10 | 165-F | None | 9 | KCNJ11 NM_000525 | DEND syndrome (p.I167L - 17652641) |
KCNJ10 | 166-L | Probably Benign - (p.L166Q - rs1130182) | 9 | ||
KCNJ10 | 167-A | Other Disease Phenotype - SeSAME syndrome (p.A167V - 19289823, rs137853070) | 9 | ||
KCNJ10 | 168-K | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.K170R - 15580558, p.K170N - 15580558, p.K170T - 16609879) |
KCNJ10 | 170-A | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.S183C - 19096086) |
KCNJ10 | 171-R | None | 9 | KCNJ13 NM_002242 | Snowflake vitreoretinal degeneration (p.R162W - 18179896) |
KCNJ10 | 172-P | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.P186L - 12163457) |
KCNJ11 NM_000525 | Diabetes, transient neonatal (p.A174G - 17635943) | ||||
KCNJ10 | 174-K | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal ? (p.R176C - 17296510) |
KCNJ10 | 175-R | Epilepsy - Epilepsy, ataxia, sensorineural deafness and tubulopathy (p.R175Q - 20651251) | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.R189I - 12796536) |
KCNJ1 NM_000220 | Bartter syndrome (p.R188C - 19096086) | ||||
KCNJ10 | 177-E | Probably Benign - (p.E177G - rs145947380) | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.E179A - 16636122) |
KCNJ10 | 178-T | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.T192A - 12045162) Andersen-Tawil syndrome (p.T192I - 20111058) |
KCNJ1 NM_000220 | Bartter syndrome (p.T191I - 20219833) | ||||
KCNJ10 | 180-R | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.I182V - 15718250) |
KCNJ10 | 183-Q | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.K185Q - 20546268) |
KCNJ10 | 185-A | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A198S - 20219833, p.A198T - 9002665) |
KCNJ11 NM_000525 | Hyperinsulinism (p.A187V - 11395395) | ||||
KCNJ10 | 194-P | Other Disease Phenotype - Hearing loss, digenic non-syndromic (p.P194H - 19426954) | 9 | ||
KCNJ10 | 199-R | None | 9 | KCNJ11 NM_000525 | Diabetes, juvenile-onset (p.R201L - 15735229) Diabetes, permanent neonatal (p.R201C - 15115830, p.R201H - 15115830) |
KCNJ10 | 201-A | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.G215D - 12689820) |
KCNJ1 NM_000220 | Bartter syndrome (p.A214V - 8841184) | ||||
KCNJ10 | 202-N | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.N216H - 12163457) |
KCNJ11 NM_000525 | Hyperinsulinism (p.D204E - 18596924) | ||||
KCNJ10 | 203-M | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.L217P - 16217063) |
KCNJ10 | 204-R | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.R218Q - 11371347, p.R218W - 11371347) |
KCNJ10 | 206-S | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.S219R - 8841184) |
KCNJ10 | 207-L | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.L220F - 9502574) |
KCNJ10 | 211-C | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.A213T - 20685672) |
KCNJ10 | 212-Q | Benign - (p.Q212R - rs36040296) | 9 | ||
KCNJ10 | 213-V | None | 9 | KCNJ2 NM_000891 | Ventricular tachycardia (p.V227F - 16818210) |
KCNJ10 | 215-G | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.G228E - 19096086) |
KCNJ10 | 221-H | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.T223P - 20685672) |
KCNJ10 | 225-E | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.E227K - 17327377) |
KCNJ10 | 227-E | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.E229K - 17327377) |
KCNJ10 | 230-R | Probably Benign - (p.R230W - rs149615470) | 8 | ||
KCNJ10 | 231-L | None | 8 | KCNJ11 NM_000525 | Diabetes, neonatal (p.L233F - 21210267) |
KCNJ10 | 245-D | Probably Benign - (p.D245E - rs146426296) | 9 | ||
KCNJ10 | 246-S | None | 9 | KCNJ2 NM_000891 | Andersen syndrome & cat. poly. ventricular tachycardia mimickry (p.R260P - 21148745) |
KCNJ10 | 250-I | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.V252A - 17021801) |
KCNJ10 | 252-P | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.P254L - 15579781) |
KCNJ10 | 257-H | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.H259R - 15998776, p.H259Q - 20685672) |
KCNJ10 | 263-S | None | 9 | KCNJ1 NM_000220 | Salt-losing tubulopathy ? (p.S276N - 20810575) |
KCNJ10 | 264-P | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.P266L - 14692646) Sudden cardiac death in acute myocardial infarction (p.P266T - 14871556) |
KCNJ10 | 271-R | Benign - (p.R271H - rs3795339) | 9 | ||
KCNJ10 | 278-E | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.E282K - 17114887) |
KCNJ10 | 283-L | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.L297S - 19096086) |
KCNJ10 | 285-G | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.G300D - 12796536, p.G300V - 11371347) |
KCNJ10 | 286-T | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.V290M - 20980454) |
KCNJ10 | 287-V | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.V302M - 12163457) |
KCNJ10 | 288-E | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.E303K - 11371347) |
KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.E292G - 17021801) | ||||
KCNJ10 | 289-S | None | 9 | KCNJ11 NM_000525 | DEND syndrome, intermediate (p.T293N - 20049716) |
KCNJ10 | 290-T | None | 9 | KCNJ2 NM_000891 | Arrhythmia (p.T305A - 17341397) |
KCNJ11 NM_000525 | Hyperinsulinism (p.T294M - 20049716) | ||||
KCNJ10 | 292-A | None | 9 | KCNJ2 NM_000891 | Andersen-Tawil syndrome (p.M307I - 17211524) |
KCNJ1 NM_000220 | Bartter syndrome (p.A306T - 12911542) | ||||
KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.I296L - 15115830) | ||||
KCNJ10 | 294-C | None | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.T309I - 15831539) |
KCNJ10 | 297-R | Other Disease Phenotype - SeSAME syndrome (p.R297C - 19289823) | 9 | KCNJ2 NM_000891 | Andersen syndrome (p.R312C - 12796536) |
KCNJ1 NM_000220 | Bartter syndrome (p.R311Q - 10611379, p.R311W - 10611379) | ||||
KCNJ11 NM_000525 | Hyperinsulinism (p.R301C - 18250167, p.R301G - 18250167, p.R301H - 14715863, p.R301P - 18250167) | ||||
KCNJ10 | 299-S | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.S313C - 11810218) |
KCNJ10 | 300-Y | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.Y314C - 12911542) |
KCNJ10 | 301-L | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.V315G - 9002665) |
KCNJ10 | 306-L | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.L320P - 19096086) |
KCNJ10 | 311-F | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F325C - 10611379) |
KCNJ10 | 318-S | None | 8 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.E322K - 15448107) |
KCNJ10 | 327-F | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.Y330S - 16885550) Diabetes, permanent neonatal (p.Y330C - 15448107) |
KCNJ10 | 330-F | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.F333I - 15448106) Hyperinsulinism (p.F333S - 20685672) |
KCNJ10 | 337-A | None | 9 | KCNJ2 NM_000891 | Long QT syndrome (p.P351S - 17221872) |
KCNJ10 | 347-V | None | 6 | KCNJ1 NM_000220 | Bartter syndrome (p.M357T - 8841184) |
KCNJ10 | 348-R | Other Disease Phenotype - Hearing loss, digenic non-syndromic (p.R348C - 19426954) | 6 | ||
KCNJ10 | 354-K | Probably Benign - (p.K354R - rs142596580) | 5 | ||
KCNJ10 | 360-S | None | 3 | KCNJ11 NM_000525 | Sudden cardiac death in acute myocardial infarction (p.R371H - 14871556) |
KCNJ10 | 376-I | Probably Benign - (p.I376T - rs61821988) | 4 | ||
KCNJ10 | 378-N | None | 4 | KCNJ8 NM_004982 | Ventricular fibrillation (p.S422L - 19120683) |