| 3 |
ALDH7A1
|
c.1597delG (p.Ala533ProfsTer18) c.1597delG (p.Ala533Profs*18) c.328C>T .p.Arg110Ter |
Pathogenic (PP5, PVS1, PM2) |
| 1 |
AARS
|
c.601G>A (p.Ala201Thr) |
VUS (PM2) |
| 3 |
CACNA1A
|
c.4687G>A (p.Val1563Met), c.6409G>C (p.Asp2137His) |
Likely pathogenic (PM2, PP3, PP2), VUS (PM2, PP2) |
| 2 |
CTNNB1
|
c.1320A>C p.(Gln440His) |
VUS (PM2, PP2) |
| 1 |
DCX
|
c.1120A>T (p.Thr374Ser) |
VUS (PM2, PP2) |
| 2 |
DBH
|
c.1627C>A (p.Pro543Thr), c.1025-6T>A |
VUS (PM2), VUS (PM2, BP4) |
| 2 |
DOCK7
|
c.4073G>A p.(Arg1358Gln), c.1724A>G p.(Asn575Ser) |
VUS (PM2, PP2), VUS (PM2, PP2, BP4) |
| 1 |
FOLR1
|
c.493+2T>C |
VUS (PVS1, PP5, BS2) |
| 2 |
GABRB3
|
c.4073G>A p.(Arg1358Gln), c.56G>A (p.Gly19Glu) |
VUS (PM2, PP2, PP3) |
| 2 |
GCH1
|
c.333G>A (p.Glu111=) |
VUS (PM2, BP7) |
| 1 |
GRIN2B
|
c.2642A>G (p.Gln881Arg) |
VUS (PM2, PP2, BP4) |
| 2 |
GUF1
|
c.1402_1403delGA (p.Glu468Ilefs*15) |
Likely pathogenic (PVS1, PM2) |
| 3 |
KCNQ2
|
c.1741C>T (p.Arg581*), c.88G>A (p.Gly30Ser), c.2173C>T (p.Arg725Cys) |
Pathogenic (PVS1, PM2, PP5), VUS (PM2, PP2) |
| 2 |
KCNT1
|
c.2594+7C>T, c.1210G>A (p.Val404Met) |
VUS (PP3, BP6), VUS (PM2) |
| 1 |
NECAP1
|
c.812A>G (pAsn271Ser) |
VUS (PM2, BP4) |
| 1 |
PCDH19
|
c.2838G>A (p.Pro543Thr) |
VUS (PP2, PM2, BP4) |
| 1 |
PNPO
|
c.20G>A (p.LysY7Asp) |
VUS (PM2, PP2, BP4) |
| 2 |
SCN9A
|
c.1828C>A p.(Pro610Thr), c.3267C>A (p.Asn1089Lys) |
VUS (PM2, BP4, BP7),VUS (PM2, BP7) |
| 4 |
SCN1A
|
c.812A>G (pAsn271Ser), c.1625G>A (p.Arg542Gln), c.4324T>A (p.Tyr1442Asn), c.3840_3843delTGTT (p.Ile1280Metfs*8), c.80G>C (p.Arg27Thr) |
Pathogenic (PM2, PVS1), VUS (PP2, BP4) |
| 2 |
SLC25A12
|
c.784G>A (p.Glu262Lys), c.279G>C (p.Gln93His) |
Likely pathogenic (PM2, PP3) VUS (PM2, PP2) |
| 1 |
SLC25A1
|
c.376C>T (p.Arg126Cys) |
VUS (PM2, BP7) |
| 2 |
SPTAN1
|
c.2119G>A (p.Gly707Ser), c.1143A>C (p.Lys381Asn) |
Likely pathogenic (PM2, PP3, PP2), VUS (PM2, PP2, BP4) |
| 2 |
SZT2
|
c.9458G>A (p.Arg3153His), c.7342C>T (p.Arg2448Cys) |
Likely Benign (PM2, BP4), VUS (PM2) |
| 4 |
TBC1D24
|
c.418C>G (p.Leu140Val), c.1015A>G (p.Asn339Asp), c.1020C>G (p.Phe340Leu), c.871G>A (p.Ala291Thr) |
VUS (PM2), VUS (PM2), VUS (PM2), VUS (PM2) |
| 2 |
TH
|
c.1144A>G (p.Ile382Val), c.440G>A (p.Arg147Gln) |
VUS (PM2, PP2), VUS (PM2, PP2) |
| 1 |
PCDH19
|
c.1238G>T (p.Arg413Leu) |
VUS (PP2, PM2, BP4) |
