Table 2.
EphrinB2-EphB4-RASA1 Mutations Identified in Human Patients With Vascular Disorders
| Gene | Type of Mutation | Coding Variant | Protein Variant | Phenotype | Ref |
|---|---|---|---|---|---|
| EFNB2 | Transmitted | c.830G>A | p.Arg277His | VOGM, hip dysplasia, neurodevelopmental delay, seizures, cutaneous capillary malformations | [16] |
| EFNB2 | Transmitted | 13q33.2-q33.3 deletion (entire EFNB2) | Proband 1: Pulmonary valve stenosis, developmental delay, pyramidal spasticity, myoclonic epilepsy heterogeneous retinal pigmentation, abnormal visually evoked response, bilateral sensorineural hearing loss, enophalmia, hyperteloerism;Proband 2: tetrology of Fallot, developmental delay, enophalmia, hypertelorism, Proband 3 (mother): learning disability, progressive bilateral hearing loss; Proband 4 (maternal grandfather): progressive bilateral sensorineural hearing loss present before age 18 | [15] | |
| EFNB2 | De novo | c.239T>G | p.Met80Arg | Anal stenosis with fisula, hypoplastic center ventricle, hypotelorism, blepharimosis, mild psychomotor delay | |
| EPHB4 | Transmitted | c.33delG | p.Leu12Trpfs*10 | Cutaneous capillary malformation | [31] |
| EPHB4 | Transmitted | c.123+3G>C; r.123_411del | p.Trp18Valfs*16 | Cutaneous capillary malformation | |
| EPHB4 | Unsure | c.175G>A | p.Glu59Lys | Cutaneous capillary malformation, Parkes Weber Syndrome(left arm) | |
| EPHB4 | Transmitted | c.221G>C | p.Arg74Pro | Cutaneous capillary malformation | |
| EPHB4 | Unsure | c.345_347delCTA | p.Tyr115del | Cutaneous capillary malformation, AVM (right face) | |
| EPHB4 | De novo | c.389G>A | p.Trp130X | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.412-1G>T | Splicing | Cutaneous capillary malformation | |
| EPHB4 | Parental DNA not sequenced | c.418_485delGTC AAinsTT | p.Val161_Lys162d elinsLeu | Cutnaeous capillary malformation | |
| EPHB4 | Transmitted | c.447_448insGAA G | p.Arg150Glufs*74 | Cutaneous capillary malformation | |
| EPHB4 | Unsure | c.560T>C | p.Leu187Pro | Cutaneous capillary malformation, Parkes Weber Syndrome(left leg) | |
| EPHB4 | Transmitted | c.632_633delTG | p.Val211Alafs*11 | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.730C>T | p.Gln244X | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.802T>C | p.Cys268Arg | Cutaneous capillary malformation, Parkes Weber Syndrome(right leg) | |
| EPHB4 | Family 1: De novo, Family 2: Transmitted | c.1054C>T | p.Arg352X | Family 1: Cutaneous capillary malformation, Family 2:Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.1077_1081delCC GCT | p.Leu359fs*19 | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.1123G>T | p.Gly375X | Cutaneous capillary malformation | |
| EPHB4 | Unsure | c.1177_1177delG | p.Val393Ffs*17 | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.1291C>T | p.Arg431X | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.1406T>G | p.Val469Gly | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.1423-6G>A; r.1422_1423insAC AG | p.Gly475Thrfs*39 | Cutaneous capillary malformation | |
| EPHB4 | Family 1: transmitted, Family 2: unsure, Family 3: Transmitted | c.1546G>A | p.Gly516Arg | Family 1: cutaneous capillary malformation, AVM (left face and lip), Family 2: Cutaneous capillary malformation, AVM (left face), Family 3: Cutaneous capillary malformation | |
| EPHB4 | Family 1: Unsure, Family 2: Unsure | c.1558C>T | p.Gln520X | Family 1: Cutaneous capillary malformation, Family 2: Cutaneous capillary malformation | |
| EPHB4 | De novo | c.1588+5G>C | Splicing | Cutaneous capillary malformation, Parkes Weber Syndrome(right arm) | |
| EPHB4 | Transmitted | c.1615delG | p.Ala539fs*2 | Cutnaeous capillary malformation, Parkes Weber Lesion (right leg) | |
| EPHB4 | Transmitted | c.1733_1734insA | p.Gly579Argfs*10 | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.1788t>G | p.Tyr596X | Cutaneous capillary malformation, Parkes Weber Syndrome(left arm) | |
| EPHB4 | Transmitted | c.1870+2T>C | Splicing | Cutnaeous capillary malformation, AVM (left face) | |
| EPHB4 | Parental DNA not sequenced | c.1962-1G>A | Splicing | Cutaneous capillary malformation, AVM (left face) | |
| EPHB4 | Unsure | c.1966C>T | p.Arg656Trp | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.1990G>A | p.Glu664Lys | VOGM, cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.2037_2038insT | p.Glu680X | Cutaneous capillary malformation, AVM (left arm), Parkes Weber Syndrome (right leg) | |
| EPHB4 | Parental DNA not sequenced | c.2173G>A | p.Ala725Thr | Cutaneous capillary malformation | |
| EPHB4 | Family 1: Transmitted, Family 2: unsure | c.2215C>T | p.Arg739X | Family 1: Cutaneous capillary malformation, family 2: cutaneous capillary malformation | |
| EPHB4 | Family 1: De novo, Family 2: Transmitted | c.2233A>G | p.Asn745Asp | Family 1: cutaneous capillary malformation, Family 2: Cutaneous capillary malformation, Parkes Weber Syndrome (right arm) | |
| EPHB4 | Transmitted | c.2365C>T | p.Pro789Ser | Cutaneous capillary malformation, AVM (left face) | |
| EPHB4 | Transmitted | c.2366C>G | p.Pro789Arg | Cutaenous capillary malformation | |
| EPHB4 | Unsure | c.2379delC | p.Ala793fs*16 | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.2418C>T | p.Tyr806X | Cutaneous capillary malformtion | |
| EPHB4 | Transmitted | c.2419G>A | p.Gly807Arg | Cutaneous capillary malformation, AVM (left ear) | |
| EPHB4 | Transmitted | c.2458C>A | p.Pro820Thr | Cutaneous capillary malformation | |
| EPHB4 | Transmitted | c.2459C>T | p.Pro820Leu | Cutaneous capillary malformation, AVM (lips) | |
| EPHB4 | Unsure | c.2484+1G>A | Splicing | D8-L1 permedullar AVF, cutaneous capillary malformation | |
| EPHB4 | Unsure | c.2512C>T | p.Arg838Trp | Cutaneous capillary malformation | |
| EPHB4 | Unsure | c.2533T>C | p.Cys845Arg | Cutaneous capillary malformation, AVM (face and upper lip) | |
| EPHB4 | De novo | c.2567G>A | p.Cys856Tyr | Cutaneous capillary malformation | |
| EPHB4 | Family 1: Parental DNA not sequenced, Family 2: Transmitted | c.2590C>T | p.Arg846Trp | Family 1: Cutaneous capillary malformation, Family 2: Cutaenous capillary malformation | |
| EPHB4 | Parental DNA not sequenced | c.2621T>C | p.Leu874Pro | Cutaenous capillary malformation, AVM (left face) | |
| EPHB4 | Transmitted | c.1295_1296del | p.Glu432fs1 | VOGM, neurodevelopmental delay, seizures | [16] |
| EPHB4 | Transmitted | c.1526C>G | p.Ala509Gly | VOGM, Sternum excavatum | |
| EPHB4 | Transmitted | c.1950G>T | p.Lys650Asn | VOGM, neurodevelopmental delay | |
| EPHB4 | Transmitted | c.2599T>C | p.Phe867Leu | VOGM, cryptorchidism, strabismus, cerebral palsy | |
| EPHB4 | Transmitted | c.319T>C | p.Cys107Arg | VOGM | [33] |
| EPHB4 | De novo | c.570dupG | p.Hisl91Alafs*32 | Cutaneous capillary malformations, VOGM | |
| EPHB4 | Transmitted | c.2484+1G>T | p.Met814_Val829d el | Cutaneous capillary malformations, VOGM | |
| EPHB4 | Transmitted | c.2484+2insT | Splicing | Neonatal cardiac failure, VOGM | |
| EPHB4 | Transmitted | c.2609T>A | p.Val870Glu | Prenatal hydrocephaly and leukomalacia, VOGM, pregnancy terminated | |
| EPHB4 | Familial | C.2334+ 1G>C | Splicing | Central conducting lymphatic anomaly | [27] |
| EPHB4 | De novo | c.2405A>G | p.Asp802Gly | Cutaneous capillary malformations | [32] |
| RASA1 | Transmitted | c.2603+5G>C | Splicing | Cutaneous capillary malformation | [42] |
| RASA1 | Transmitted | c.616_620del | p.Ile206fs | Cutaneous capillary malformation, lymphedema | [63] |
| RASA1 | Transmitted | c.3070A>G | p.Lysl024* | Proband: Asymmetric ears, erythema on head, neck, parotid area, ear, left forarm, and right knee, hypertrophy in epidrmins, small tufted capillary malformations in superficial dermis, abnormal networks from ECA in right auricular region and neck cutaneous tissue; Father (carrier): erythema on neck, back, chest, wasit, abdomen, right D5 dermatoma | [47] |
| RASA1 | De novo | 5q14.3 deletion (entire RASA1) | Cutaneous capillary malformation | [78] | |
| RASA1 | Familial | c.1678G>T | p.Glu560X | Mental and motor retardation, epilepsy | [55] |
| RASA1 | Familial | c.734_737delinsAA A | p.Arg245fs*8 | Cutaneous capillary malformation | [43] |
| RASA1 | Transmitted | c.2927del | p.Asn976Metfs*20 | Cutaneous capillary malformation, AVM (face) | [45] |
| RASA1 | Familial | association with 5q14-21(entire RASA1) based on linkage analysis in 13 families | Cutaneous capillary malformation; 3 families have individuals with AVM | [48] | |
| RASA1 | Familial | association with RASA1 based on 6 families | Cutaneous capillary malformation; all 6 families have individuals with AVM | [40] | |
| RASA1 | Transmitted | c.1491_1492delAG | p.L498Lfs*2 | Proband: micrognathia, bulbous nasal tip, multiple capillary malformations, patent foramen ovale, dilated right atrium, significant dilation of innominate, right carotid, and right subclavian arteries, lipoma above the left iliac crest, infratentorial AVM, complex posterior fossa AVF, mulitple torturous vascular structures in anterior thecal sac, mild delays in fine motor skiills, mild stable left ventricular dilation; Mother (carrier): mulltipel cutaneous CMs, childhood febrile seizures, frequent bifrontal headaches | [79] |
| RASA1 | Unsure | c.1279C > T | p.Arg427X | Cutaneous capillary malformation, AVM (intercranial) | [54] |
| RASA1 | Transmitted | c.2125C>T | p.Arg709X | Cutaneous capillary malformation, VOGM, hydrocephalus | |
| RASA1 | Transmitted | c.2707C > T | p.Arg903X | Cutaneous capillary malformation, AVM (intercranial) | |
| RASA1 | Transmitted | c.1583A>G | p.Tyr528Cys | Multiple blanching telangiectasias on palms, fingers, tongue, and toes, reddened nasal mucosa with daily epistaxis, family history of epistaxis | [80] |
| RASA1 | Transmitted | c.3043G>T | p.E1015X | Telangiectasias, epistaxis, family history of telangiectasias | |
| RASA1 | Familial | c.829-9G>A | Splicing | Cutaneous capillary malformation, AVM (outer ear) | [49] |
| RASA1 | Familial | c.853C>T | p.Arg285X | Cutaneous capillary malformation | |
| RASA1 | Familial | c.2252_2255dupTC AT | p.Leu751Leufs*15 | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1343_1346delins CATG | p.Gln448 Valfs*44 9 | Cutaneous capillary malformation | [50] |
| RASA1 | Parental DNA not sequenced | c.2119C>T | p.Arg707Cys | VOGM | [56] |
| RASA1 | Parental DNA not sequenced | c.2912T>C | p.Leu971Ser | VOGM | |
| RASA1 | Transmitted | c.2119C>T | p.Arg707Cys | Choroidal VOGM in two consecutive pregnancies of unaffected carrier mother | [81] |
| RASA1 | Transmitted | c.1063A>T | p.Lys355X | Cutaneous capillary malformations, AVM (face) | [46] |
| RASA1 | Transmitted | c.1269_1270insTA | p.Ile423X | Cutaneous capillary malformations, AVM (maxilla digit) | |
| RASA1 | Unsure | c.1703G>A | p.Trp568X | Cutaneous capillary malformations, AVM (face), AVF (spine) | |
| RASA1 | De novo | c.2125C>T | p.Arg709X | Cutaneous capillary malformations, AVM (neck), somatic c.1534C>T p.Arg512* mutation found in cuatenous capillary malformation epithelial cells in same patient | |
| RASA1 | Unsure | c.2467dupG | p.Glu823Glyfs*6 | 20 CMs (macular and pink to brown in color with pale halo) mainly affecting face and neck | [82] |
| RASA1 | Transmitted | c.1248T>G | p.Tyr416X | Proband: cardiomegaly, LVH, center extremty lympedema and overgrowth of left thigh, inability to take food by mouth, multiple capillary malformations with hypertrophy of neckand lower face, recrrent left chylothoraces, intermittant pericardial effusions, congenital hypothyroidism, persistant compensatory severe metabolic alkalosis, GERD; Mother (carrier): multifocal capillary malformations with somatic c.2245C>T p.Arg749X in CM skin sample | [59] |
| RASA1 | Transmitted | c.613_617delCTTA T | p.Leu205Lysfs*4 | Cutaneous capillary malformation, optic glioma (before 12y), lipoma (before 10y) | [41] |
| RASA1 | Unsure | c.656C>G | p.Ser219X | Cutaneous capillary malformation | |
| RASA1 | De novo | c.806_810delTTAC | p.Leu269Profs*11 | Cutaneous capillary malformaton, PKWS, cardiac overload | |
| RASA1 | De novo | c.828+3A>T | Splicing | Cutaneous capillary malformation, AVM/AVF | |
| RASA1 | Unsure | c.951dupG | p.Met318Aspfs*10 | Cutaenous capillary malformation | |
| RASA1 | Transmitted | c.957G>A | p.Trp319X | Cutaneous capillary malformation, PKWS, cardiac overload | |
| RASA1 | Transmitted | c.1017+1G>T | Splicing | Cutaneous capillary malformation, PKWS, cardiac overload | |
| RASA1 | Transmitted | c.1192C>T | p.Arg398X | Cutaneous capillary malformation, AVM/AVF, epilepsy, hydrocephalus | |
| RASA1 | De novo | c.1208dupC | p.Thr404Asnfs*14 | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1277A>G | p.Tyr426Cys | Cutaneous capillary malformation | |
| RASA1 | Family 1: Transmitted, Family 2: Transmitted | c.1279C>T | p.Arg427X | Family 1: Cutaneous capillary malformation, Family 2: Cutaneous capillary malformation, AVM/AVF | |
| RASA1 | Transmitted | c.1332+5G>A | Splicing | Cutaneous capillary malformation | |
| RASA1 | De novo | c.1336C>T | p.Gln446X | Cutaneous capillary malformation, PKWS | |
| RASA1 | Transmitted | c.1350_1351insT | p.Asn451X | Cutaneous capillary malformation, PKWS | |
| RASA1 | De novo | c.1362_1363insTC AGT | p.Asn455Serfs*30 | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1480dupT | p.Tyr494Leufs*7 | Cutaneous capillary malformation, PKWS | |
| RASA1 | Unsure | c.1490T>G | p.Leu497X | Cutaneous capillary malformation, AVM/AVF | |
| RASA1 | Transmitted | c.1572_1575dup | p.Ser526Metfs*8 | Cutaneous capillary malformation, PKWS, cardiac overload, tetrology of Fallot, superficial basal cell carcinoma (33y) | |
| RASA1 | Unsure | c.1636C>T | p.Gln546X | Cutaneous capillary malformation, AVM/AVF | |
| RASA1 | Unsure | c.1682_1683dup | p.Pro562Leufs*9 | Cutaneous capillary malformation, PKWS, cardiac failure, epilepsy, hemorrhages, Atrial Septal Defect II, Patent Foramen Ovale | |
| RASA1 | Transmitted | c.1698+3_1698+4i nsT | Splicing | Cutaneous capillary malformation, PKWS, pulmonary stenosis | |
| RASA1 | Transmitted | c.1870C>T | p.Gln624X | Cutaneous capillary malformation, AVM/AVF | |
| RASA1 | Transmitted | c.2026C>T | p.Gln676X | Cutaneous capillary malformation | |
| RASA1 | Family 1: Transmitted, Family 2: Transmitted | c.2125C>T | p.Arg709X | Family 1: Cutaneous capillary malformation, AVM/AVF, PKWS, varicose veins, Family 2:Cutaneous capillary malformation, PKWS, cardiac failure | |
| RASA1 | Transmitted | c.2184+1delG | Splicing | Cutaneous capillary malformation, PKWS, Patent Ductus Arteriosus, Atrial Septal Defect, pulmonary stenosis, tricuspidvalve prolapse | |
| RASA1 | Unsure | c.2185-1G>A | Splicing | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.2288A>T | p.Glu763Val | Cutaneous capillary malformation, VOGM, cardiac failure, epilepsy, died rapidly after birth | |
| RASA1 | Transmitted | c.2341G>T | p.Glu781X | Cutaneous capillary malformation, AVM/AVF, hydrocephalus | |
| RASA1 | Transmitted | c.2365C>T | p.Arg789X | Cutaneous capillary malformation, AVM/AVF, angiolipoma(1y) | |
| RASA1 | Transmitted | c.2422C>T | p.Gln808X | Cutaneous capillary malformation, PKWS | |
| RASA1 | Transmitted | c.2450_2451delCT | p.Ser817Tyrfs*12 | Cutaneous capillary malformation, AVM/AVF | |
| RASA1 | Transmitted | c.2488-2A>G | Splicing | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.2488-1delGTTA | Splicing | Cutaneous capillary malformation, AVM/AVF, non-small cell lung cancer (32y), hemoptysis | |
| RASA1 | Unsure | c.2514_2515insA | p.Glu839Argfs*6 | Cutaneous capillary malformation | |
| RASA1 | De novo | c.2532_2536delTT AA | p.Leu845Thrfs*38 | Cutaneous capillary malformation, spontaneous mutation in monozygotic twins, VOGM and cardica failure in one | |
| RASA1 | Unsure | c.2579_2582delTC AT | p.Phe860Trpfs*10 | Cutaneous capillary malformation, AVM/AVF, ectopic thyroid and paraythyroid | |
| RASA1 | Transmitted | c.2603+1G>A | Splicing | Cutaneous capillary malformation, chylous ascites | |
| RASA1 | Transmitted | c.2603+2_2603+3i nsT | Splicing | Cutaneous capillary malformation, ureteral reflux, epispadias | |
| RASA1 | Transmitted | c.2603+4_2603+5i nsA | Splicing | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.2603_5G>T | Splicing | Cutaneous capillary malformation, neurofibromas (53y) | |
| RASA1 | Transmitted | c.3028C>T | p.Arg1010X | Cutaneous capillary malformation, vestibular schwannoma(26y) | |
| RASA1 | Transmitted | c.3052delG | p.Ala1018Hisfs*6 | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.365C>A | p.Ser122X | Cutaneous capillary malformation | [30] |
| RASA1 | Transmitted | c.409dup | p.Leu137Profs*21 | Cutaneous capillary malformation, AVM (right foot) | |
| RASA1 | Transmitted | c.442_443delinsT | p.Ala148Trpfs*26 | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.463G>T | p.Glu155X | Cutaneous capillary malformation | |
| RASA1 | Family 1: Transmitted, Family 2: Transmitted | c.475_476del | p.Leu159Glyfs*20 | Family 1: Cutaneous capillary malformation, AVM (nose), renal dysplasia, left kidney ptosis, Family 2: Cutaneous capillary malformation, brain AVF (identified by chance at 12y) | |
| RASA1 | Unsure | c.492C>G | p.Tyr164X | Cutaneous capillary malformation, pial AVM (deterioration in speech at 2, 5y), mental retardation | |
| RASA1 | Transmitted | c.613_617del | p.Leu205Lysfs*4 | Cutaneous capillary malformation, retinal vascular malformation in 2 individuals | |
| RASA1 | Unsure | c.829-1G>A | Splicing | Cutaneous capillary malformation, AVM(left arm) | |
| RASA1 | Family 1: De novo, Family 2:De novo | c.853C>T | p.Arg285X | Family 1: Cutaneous capillary malformation, AVM (upper lip), epilepsy, Family 2: Cutaneous capillary malformation | |
| RASA1 | Unsure | c.899+1G>T | Splicing | AVM (ear) | |
| RASA1 | Family 1: Transmitted, Family 2: Unsure | c.1192C>T | p.Arg398X | Family 1: Cutaneous capillary malformation, pial AVM (gross motor delay at 2 y), AVM (left calfand foot), Family 2: Cutaneous capillary malformation, PKWS (left leg) | |
| RASA1 | Transmitted | c.1220_1223del | p.Asn407Serfs*3 | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.1290_1291del | p.Gln430Hisfs*3 | Cutaneous capillary malformation, PKWS (center leg) | |
| RASA1 | Unsure | c.1342C>T | p.Gln448X | Cutaneous capillary malformation, AVM (tongue) | |
| RASA1 | Transmitted | c.1384_1388del | p.Thr462Profs*3 | Cutaneous capillary malformation | |
| RASA1 | De novo | c.1386_1387insCT | p.Ile463Leufs*21 | Cutaneous capillary malformation, spinal AVM L1 (neurogenic bladder at 4y), atrial septal defect | |
| RASA1 | Unsure | c.1440T>G | p.Tyr480X | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1453+1delG | Splicing | Cutaneous capillary malformation, spinal AVF | |
| RASA1 | Unsure | c.1480dupT | p.Tyr494Leufs*7 | Cutaneous capillary malformation, AVM (right foot) | |
| RASA1 | Unsure | c.1494_1495dup | p.Gly499Argfs*22 | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.1517_1520del | p.Tyr506Leufs*13 | Cutaneous capillary malformation, PKWS (left leg) | |
| RASA1 | Transmitted | c.1534C>T | p.Arg512X | Cutaneous capillary malformation, family history of VOGM with prenatal death at 32w | |
| RASA1 | Transmitted | c.1583A>G | p.Tyr528Cys | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1589T>A | p.Val530Asp | Cutaneous capillary malformation, brainstem AVM (brain hemorrhage with facial palsy at 3w), left leg AVM, basal cell carcinoma in 2 individuals | |
| RASA1 | Transmitted | c.1596_15797del | p.Asp532Glufs*17 | Cutaneous capillary malformation, AVM (right hand) | |
| RASA1 | Transmitted | c.1636C>T | p.Gln546X | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1666_1698+15del | Splicing | Cutaneous capillary malformation, posterior fossa AVM, spinal AVF (flaccid paraplegia of lower extremities and neurogenic bladder at 6 months), family history of hydrops fetalis | |
| RASA1 | Unsure | c.1698+1G>T | Splicing | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1717C>T | p.Gln573X | Cutaneous capillary malformation, spinal AVM, PKWS (right leg) | |
| RASA1 | Transmitted | c.1726dup | p.Cys576Leufs*7 | Cutaneous capillary malformation, AVM (left arm) | |
| RASA1 | De novo | c.1870C>T | p.Gln624X | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.1877C>A | p.Ala626Glu | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.1989_1992del | p.Lys664Alafs*13 | Cutaneous capillary malformation, AVM (center arm), macular degeneration in 1 individual | |
| RASA1 | Family 1: Transmitted, Family 2: Transmitted, Family 3: Unsure, | c.2035C>T | p.Arg679X | Family 1: Cutaneous capillary malformation, AVM (right foot), Family 2: Cutaneous capillary malformation, AVM (right hand), Family 3: Cutaneous capillary malformation, Family 4: Cutaneous capillary malformation | |
| Family 4: Transmitted | |||||
| RASA1 | Transmitted | c.2081_2087del | p.Ser694Tyrfs*3 | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.2125C>T | p.Arg709X | Cutaneous capillary malformation, VOGM | |
| RASA1 | Family 1: Transmitted, Family 2: Transmitted, Family 3: Transmitted, Family 4: De novo | c.2131C>T | p.Arg711X | Family 1: Cutaneous capillary malformation, AVM (lower lip), vertebral AVF (tetraplegia at 4y), Family 2: Cutaneous capillary malformation, posterior fossa AVM (engorged veins around face), family history of cerebral aneurysm, Family 3: Cutaneous capillary malformation, Family 4: Cutaneous capillary malformation | |
| RASA1 | Unsure | c.2239C>T | p.Gln747X | Cutaneous capillary malformation, AVM (center cheek) | |
| RASA1 | Unsure | c.2245C>T | p.Arg749X | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.2288A<T | p.Glu763Val | Cutaneous capillary malformation | |
| RASA1 | De novo | c.2329G>T | p.Glu777X | Cutaneous capillary malformation, spinal artery pial fistual AVF (headaches and facial tics), right foot and calf fast flow lesion | |
| RASA1 | Transmitted | c.2344+1G>C | Splicing | Cutaneous capillary malformation, AVM (face) | |
| RASA1 | Family 1: Transmitted, Family 2: Transmitted | c.2365C>T | p.Arg789X | Family 1: Cutaneous capillary malformation, congenital heart defect, Family 2:Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.2422C>T | p.Gln808X | Cutaneous capillary malformation, AVM (right foot) | |
| RASA1 | Unsure | c.2450_2451del | p.Ser817Tyrfs*12 | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.2457_2460delins T | p.Leu819_lys820de linsPhe | Cutaneous capillary malformation, AVM (face, right hand) | |
| RASA1 | De novo | c.2500_2501del | p.Lys834Valfs*5 | Cutaneous capillary malformation | |
| RASA1 | Unsure | c.2532_2536del | p.Leu845Thrfs*38 | Cutaneous capillary malformation, AVM (face) | |
| RASA1 | Transmitted | c.2603+2dup | Splicing | Cutaneous capillary malformation, brain AVM, PKWS (right arm) | |
| RASA1 | Transmitted | c.2632C>T | p.Gln878X | Cutaneous capillary malformation, PKWS (right leg, ulceration), hydrops fetalis | |
| RASA1 | Transmitted | c.2707C>T | p.Arg903X | Cutaneous capillary malformation, parietal AVF (seizures at 5y) | |
| RASA1 | Transmitted | c.2925+5G>C | Splicing | Cutaneous capillary malformation, spinal AVM D12-L1 (center leg paralysis at 2y) | |
| RASA1 | Transmitted | c.2977del | p.Arg993Valfs*3 | Cutaneous capillary malformation, VOGM (stroke), PKWS (left arm) | |
| RASA1 | Transmitted | c.3024del | p.Glu1008Aspfs*16 | Cutaneous capillary malformation, VOGM (stroke at 3y), developmental delay | |
| RASA1 | Transmitted | c.3028C>T and c.3064G>T | p.Arg1010X and p.Gly22Cys | Cutaneous capillary malformation, pial AVM, family history of TOP at 7 months for VOGM | |
| RASA1 | Unsure | c.3038_3054del | p.Ser1013Thrfs*27 | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.3055C>T | p.Gln1019X | Cutaneous capillary malformation | |
| RASA1 | Transmitted | c.3109_3112del | p.Gln1037Thrfs*63 | Cutaneous capillary malformation, AVM (left leg), Naevus anemicus | |
| RASA1 | Unsure | c.2125C>T | p.Arg709X | Heuchan: VOGM, CM-AVM rash, Revencu: cutaneous capillary malformation | [30, 56] |
| RASA1 | De novo | c.1386_1387insCT | p.Ile463Leufs*21 | 2 cutaneous capillary malformations at birth, more CMs apperaed later, lower extremity weakness (non-ambulator), neurogenic bladder at 4y, AVM at conus medularis (L1) | [52] |
| RASA1 | Transmitted | c.1453+1delG | Splicing | Multifocal CMs at birth, AVF supplied by R vertebral artery and thyocervical trunk | |
| RASA1 | Transmitted | c.1666_1698+15del | Splicing | Multifocal CMs at birth, flaccid paraplegia of lower extremities and neurogenic bladder at 16 months, AVM at conus medularis(L2) | |
| RASA1 | Transmitted | c.1717C>T | p.Gln573X | Multifocal CMs at birth, acute sensorimotor deficits at 23y, AVM at L5-S1 | |
| RASA1 | De novo | c.2329G>T | p.Glu777X | CM on R plantar foot at birth, macular lesions appeared with time along with motor tics, AVF at level of C7-T1 | |
| RASA1 | Transmitted | c.1310T>G | p.Leu437Arg | Mulitfocal CMs on right palm, chest, and back, history of nosebleeds | [44] |
| RASA1 | Transmitted | c.1401_1402delAA | p.Thr467fs | Multifocal CMs, reddish-brown patch on head/face, extremities, AVF (high flow lesions underneath shins), bright red macule with telangiectasias on extremities | |
| RASA1 | Transmitted | c.1491_1492delAG | p.Leu497fs | Large brain AVM, multifocal cutaneous vascular malformation on face, nape of neck, and occipital region | |
| RASA1 | De novo | c.1617dupA | p.Asn539fs | AVM on right side of face and back, multifocal CMs | |
| RASA1 | Transmitted | c.1771_2insC | p.Asn591fs | Brain AVM near carotid, multiple CMs near eye | |
| RASA1 | De novo | c.1870C>T | p.Gln624X | Multifocal CMs on head, face, and chest, nose hypertropy and telangiectasia | |
| RASA1 | Transmitted | c.2026C>T | p.Gln676X | Multifocal CMs, macrocephaly | |
| RASA1 | Unsure | c.2084A>T | p.His695Leu | Brain AVF, brain AVM, multifocal CMs on head/face | |
| RASA1 | Transmitted | c.2225C>A | p.Ser724X | Brain AVM, multifocal CMs on head/face, trunk, and extremities, tumors (center nasal bridge and maxillary areas, center occipital lesion, multiple spots on face), macrocephaly, seizures | |
| RASA1 | De novo | c.2239C>T | p.Gln747X | Facial AVM, mulitifocal CMs |