Sugi Variant

Sugi Variant/RASA1

RASA1 — 1717 ClinVar variants

All ClinVar germline RASA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 613 flagged for review →

195 Pathogenic · 13 Pathogenic/Likely pathogenic · 85 Likely pathogenic · 68 Conflicting · 40 Benign · 31 Benign/Likely benign · 593 Likely benign · 692 Uncertain significance

Full RASA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 613

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 47

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 447

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 447

Predictors split 119

The independent predictors disagree with each other — read with care.

All RASA1 variants

Pathogenic 195

  • c.2603+1G>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2925+1G>T Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg1010Ter Multiple submitters hereditary hemorrhagic telangiectasia
  • p.Arg285Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg398Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg427Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg512Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg679Ter Multiple submitters RASA1-related disorder
  • p.Arg709Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg711Ter Multiple submitters Cardiovascular phenotype
  • p.Arg749Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg789Ter Multiple submitters RASA1-related disorder
  • p.Arg903Ter Multiple submitters RASA1-related disorder
  • p.Gln408Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Gln624Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Gln808Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu510Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ile717fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu128fs Multiple submitters Cardiovascular phenotype
  • p.Leu159fs Multiple submitters RASA1-related disorder
  • p.Leu205fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu578Ter Multiple submitters Cardiovascular phenotype
  • p.Lys834fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Lys964fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ser639Ter Multiple submitters vascular malformation
  • p.Ser817fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Thr662fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr204Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr872Ter Multiple submitters capillary malformation-arteriovenous malformation 1
  • p.Val527fs Multiple submitters Cardiovascular phenotype
  • p.Val643fs Multiple submitters Cardiovascular phenotype
  • p.Val900fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1050-1G>A Single submitter capillary malformation-arteriovenous malformation 1
  • c.1103-1G>T Single submitter capillary malformation-arteriovenous malformation 1
  • c.1103-2A>C Single submitter
  • c.1332+1G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1332+2T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-1G>T Single submitter capillary malformation-arteriovenous malformation 1
  • c.1453_1453+5del Single submitter capillary malformation-arteriovenous malformation 1
  • c.1453+1del Single submitter
  • c.1453+1G>T Single submitter
  • c.1453+2dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1934+2T>C Single submitter
  • c.1934+2T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+1G>C Single submitter
  • c.2184+1G>T Single submitter Inborn genetic diseases
  • c.2345-1G>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.2604-2A>C Single submitter
  • c.2690+1G>A Single submitter
  • c.2759-2A>G Single submitter RASA1-related disorder
  • c.2925+1del Single submitter capillary malformation-arteriovenous malformation 1
  • c.2926-14C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.539+4A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.539+4dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.540-406_692+21735del Single submitter capillary malformation-arteriovenous malformation 1
  • c.828+5G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala100fs Single submitter
  • p.Ala148fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala40fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala58fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala78fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg188fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Arg245fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg281Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg789Gln Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asn407fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asn838fs Single submitter Cardiovascular phenotype
  • p.Asn842fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asn844fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Asn844Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Asn976fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asp1007delinsGluTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asp1007fs Single submitter
  • p.Asp521fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asp645Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asp775fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asp972delinsPheTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asp990fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Cys525fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Cys771fs Single submitter RASA1-related disorder
  • p.Cys876fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gln180fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gln446_Glu447insTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gln446Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gln448fs Single submitter vascular malformation
  • p.Gln503Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gln573Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Gln681fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Gln747Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Gln826fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Gln826Ter Single submitter capillary malformation
  • p.Gln878Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Gln882fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu1015Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu1031fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu155Ter Single submitter Arteriovenous malformation
  • p.Glu166Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu167fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Glu192Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu208_Ser209insTer Single submitter
  • p.Glu312fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Glu312Ter Single submitter Cardiovascular phenotype
  • p.Glu342_Glu343insTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu342fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Glu498fs Single submitter
  • p.Glu640Ter Single submitter
  • p.Glu655fs Single submitter Cardiovascular phenotype
  • p.Glu688Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu722Ter Single submitter
  • p.Glu728Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu734fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu777fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Glu836Ter Single submitter
  • p.Gly1017fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gly340fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gly384fs Single submitter
  • p.Gly420fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gly487fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Gly73Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.His183fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.His599fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.His762fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.His883fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ile206fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ile505Lysfs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ile670fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ile759fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ile909fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu195fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu249fs Single submitter Arteriovenous malformation
  • p.Leu262fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu269fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu497fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Leu519Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu698fs Single submitter
  • p.Leu765fs Single submitter Cardiovascular phenotype
  • p.Leu845delinsPhePhePhePhePhePhePheXaaXaaXaaXaaPheTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu845fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu852_Ser853insTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu852fs Single submitter Cardiovascular phenotype
  • p.Leu930fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu932fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Lys185fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Lys477Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Lys488fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Lys664fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Lys815fs Single submitter
  • p.Lys820_Ile821insTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Pro136fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Pro144fs Single submitter
  • p.Pro145fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Pro440fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Pro867fs Single submitter Cardiovascular phenotype
  • p.Pro958fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Pro981fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser122Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser27fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser379fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser523fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser526fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser779fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser853fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ser936fs Single submitter
  • p.Thr382fs Single submitter Vascular skin disorders
  • p.Thr796_Leu797insTer Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Trp319Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Trp351Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Trp568Ter Single submitter
  • p.Trp885Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Tyr142Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Tyr164Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Tyr389fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Tyr416fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Tyr416Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Tyr506fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Tyr553fs Single submitter capillary infantile hemangioma
  • p.Tyr712Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Tyr739fs Single submitter
  • p.Tyr801Ter Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Tyr874fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Val608fs Single submitter
  • p.Val933fs Single submitter
  • p.Val937fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Val956fs Single submitter capillary malformation-arteriovenous malformation 1
  • c.829-9G>A No assertion criteria capillary malformation-arteriovenous malformation 1
  • p.Ala753fs No assertion criteria capillary malformation-arteriovenous malformation 1
  • p.Arg398Leu No assertion criteria Basal cell carcinoma, somatic ⚠
  • p.Cys540Tyr No assertion criteria capillary malformation-arteriovenous malformation 1
  • p.Glu193fs No assertion criteria RASA1-related disorder
  • p.Lys400Glu No assertion criteria Basal cell carcinoma, somatic
  • p.Lys661fs No assertion criteria angioosteohypertrophic syndrome
  • p.Ser665fs No assertion criteria capillary malformation-arteriovenous malformation 1
  • p.Trp181Ter No assertion criteria angioosteohypertrophic syndrome
  • p.Tyr256Ter No assertion criteria angioosteohypertrophic syndrome

Pathogenic/Likely pathogenic 13

  • c.1698+1G>A Multiple submitters RASA1-related disorder
  • c.1934_1934+1del Multiple submitters capillary malformation-arteriovenous malformation 1
  • c.2012-2A>G Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2691-1G>T Multiple submitters capillary malformation-arteriovenous malformation 1
  • p.Gln1019Ter Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Gln808fs Multiple submitters capillary malformation-arteriovenous malformation 1
  • p.Glu5fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu70fs Multiple submitters arteriovenous malformations of the brain
  • p.Gly304fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ile401fs Multiple submitters capillary malformation-arteriovenous malformation 1
  • p.Met411fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Thr453fs Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr553Ter Multiple submitters RASA1-related disorder

Likely pathogenic 85

  • c.1454-11_1454-7del Multiple submitters basal cell carcinoma, susceptibility to, 1
  • c.899+1G>T Multiple submitters capillary malformation-arteriovenous malformation 1
  • c.1049+1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+2T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1050-1G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+2T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+2T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1254-1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-17_1340del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1453+2T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1611-1G>A Single submitter RASA1-related disorder
  • c.1611-2A>G Single submitter RASA1-related disorder
  • c.1698+2T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-1G>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.1777-2A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1935-3T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2011+1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2011+1G>C Single submitter Cardiovascular phenotype
  • c.2011+1G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2011+6T>G Single submitter
  • c.2012-1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-47_2031del Single submitter RASA1-related disorder
  • c.2184+1G>A Single submitter RASA1-related disorder
  • c.2185-1_2196del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2185-1G>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+2T>G Single submitter capillary malformation-arteriovenous malformation 1
  • c.2485_2487+2del Single submitter capillary malformation-arteriovenous malformation 1
  • c.2487+1G>T Single submitter RASA1-related disorder
  • c.2487+2T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2603+2dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2603+5G>A Single submitter RASA1-related disorder
  • c.2604-1_2605del Single submitter basal cell carcinoma, susceptibility to, 1
  • c.2691-1G>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2691-7_2707del Single submitter capillary malformation-arteriovenous malformation 1
  • c.2847+1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2925+1dup Single submitter Cardiovascular phenotype
  • c.2925+1G>A Single submitter basal cell carcinoma, susceptibility to, 1
  • c.2925+2T>C Single submitter RASA1-related disorder
  • c.2926-2_2927del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.3060+1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.539+1G>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.539+2T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.539+5G>A Single submitter
  • c.540-2A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.693-1G>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.693-6_711del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.828+1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.828+1G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.829-1G>C Single submitter RASA1-related disorder
  • c.829-1G>T Single submitter capillary malformation-arteriovenous malformation 1
  • c.829-2A>G Single submitter Wieacker-Wolff syndrome
  • c.899_899+3del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.899+1G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.900-3_900-2del Single submitter
  • p.Arg211fs Single submitter
  • p.Asn461fs Single submitter RASA1-related disorder
  • p.Asn461Ter Single submitter RASA1-related disorder
  • p.Asn621fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Glu602Ter Single submitter RASA1-related disorder
  • p.Glu864Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Gly479fs Single submitter RASA1-related disorder
  • p.Gly499fs Single submitter
  • p.Gly89fs Single submitter
  • p.His736fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Ile496fs Single submitter RASA1-related disorder
  • p.Ile755fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Ile818fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Ile931delinsLysHisTer Single submitter capillary malformation-arteriovenous malformation 1
  • p.Leu658fs Single submitter
  • p.Leu852Pro Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Leu902fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Lys1025fs Single submitter RASA1-related disorder
  • p.Lys483Ter Single submitter
  • p.Lys580Ter Single submitter RASA1-related disorder
  • p.Lys588fs Single submitter RASA1-related disorder
  • p.Pro289_Tyr290insTer Single submitter
  • p.Ser742fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Ser833Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Ser919Ter Single submitter RASA1-related disorder
  • p.Thr1030fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Thr657Pro Single submitter capillary malformation-arteriovenous malformation 1
  • p.Trp885fs Single submitter capillary malformation-arteriovenous malformation 1
  • p.Tyr426Ter Single submitter capillary malformation-arteriovenous malformation 1
  • p.Pro924fs No assertion criteria capillary malformation-arteriovenous malformation 1

Conflicting classifications of pathogenicity 68

  • c.1611-15G>A Single submitter capillary malformation-arteriovenous malformation 1
  • c.1611-2del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1935-3T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2926-8C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.693-5A>G Single submitter RASA1-related disorder
  • c.899+8A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.*476T>G Single submitter capillary malformation-arteriovenous malformation 1
  • p.Ala148Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala170Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala23Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala470Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala6Val Single submitter Cardiovascular phenotype ⚠
  • p.Arg341Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg427Gln Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg674Cys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg903Gln Single submitter RASA1-related disorder ⚠
  • p.Asn1044Ser Single submitter Cardiovascular phenotype ⚠
  • p.Asn652Ser Single submitter Cardiovascular phenotype ⚠
  • p.Asn888Asp Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp1045Tyr Single submitter Cardiovascular phenotype ⚠
  • p.Asp113Glu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp295Glu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gln1037fs Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gln359Leu Single submitter Cardiovascular phenotype ⚠
  • p.Gln676Leu Single submitter Cardiovascular phenotype ⚠
  • p.Glu602del Single submitter capillary malformation-arteriovenous malformation 1
  • p.Glu763Lys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly21Asp Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly22Cys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly26Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly63Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly683= Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Gly68Ala Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly7Arg Single submitter Cardiovascular phenotype ⚠
  • p.His883Arg Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ile1029Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ile232Val Single submitter Cardiovascular phenotype ⚠
  • p.Ile423Val Single submitter Cardiovascular phenotype ⚠
  • p.Ile475Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ile717Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ile925Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Leu116Val Single submitter Cardiovascular phenotype ⚠
  • p.Leu150Phe Single submitter Cardiovascular phenotype ⚠
  • p.Leu269Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Leu677Trp Single submitter Cardiovascular phenotype ⚠
  • p.Leu741Val Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Met114Thr Single submitter Cardiovascular phenotype ⚠
  • p.Phe471Leu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro135Arg Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro136Leu Single submitter Cardiovascular phenotype ⚠
  • p.Pro13Arg Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro39Leu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro442Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro868Leu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ser28Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ser713= Single submitter capillary malformation-arteriovenous malformation 1
  • p.Ser713Cys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ser767Trp Single submitter Cardiovascular phenotype
  • p.Ser824Cys Single submitter Cardiovascular phenotype ⚠
  • p.Ser880Cys Single submitter Cardiovascular phenotype ⚠
  • p.Thr178Ala Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Thr189= Single submitter capillary malformation-arteriovenous malformation 1
  • p.Thr60Ile Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Thr87Arg Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Thr87Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Tyr528Cys Single submitter Cardiovascular phenotype ⚠
  • p.Val102_Gly109del Single submitter Cardiovascular phenotype
  • p.Val107Leu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠

Benign 40

Benign/Likely benign 31

  • c.1102+10T>C Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1332+8T>C Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1454-7dup Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1777-14T>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1777-15_1777-14insA Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1777-3dup Multiple submitters Cardiovascular phenotype
  • c.2691-11C>T Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2691-17del Multiple submitters
  • c.539+188T>A Multiple submitters
  • c.693-14dup Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.829-12T>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.-198G>T Multiple submitters
  • p.Ala753= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ala99Val Multiple submitters basal cell carcinoma, susceptibility to, 1
  • p.Arg465His Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Asn1044= Multiple submitters Cardiovascular phenotype
  • p.Glu498= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu54Asp Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu70Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu763Val Multiple submitters Cardiovascular phenotype
  • p.Gly75Ala Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.His762= Multiple submitters Cardiovascular phenotype
  • p.Ile206Thr Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ile656= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu1023= Multiple submitters Cardiovascular phenotype
  • p.Leu128= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Lys457= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Pro120= Multiple submitters Cardiovascular phenotype
  • p.Thr843Asn Multiple submitters Cardiovascular phenotype
  • p.Tyr204= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Val102Leu Multiple submitters capillary malformation-arteriovenous malformation syndrome

Likely benign 593

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1017+13C>T Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1018-18T>C Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1102+207C>T Multiple submitters
  • c.1332+20T>C Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1333-69C>A Multiple submitters
  • c.1453+63C>T Multiple submitters
  • c.1699-35T>C Multiple submitters
  • c.1777-16del Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1777-4_1777-3del Multiple submitters
  • c.1934+11T>C Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1934+142T>A Multiple submitters
  • c.1934+143T>A Multiple submitters
  • c.1935-14C>T Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1935-16C>T Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2011+7T>G Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2184+109A>C Multiple submitters
  • c.2345-111C>T Multiple submitters
  • c.2345-69T>G Multiple submitters
  • c.2345-6G>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2487+13T>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2488-20T>G Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2488-41A>C Multiple submitters
  • c.2604-13G>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2691-16T>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2758+43T>A Multiple submitters
  • c.2759-18T>G Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2848-21C>T Multiple submitters
  • c.2848-26T>C Multiple submitters
  • c.2848-4T>C Multiple submitters Cardiovascular phenotype
  • c.2925+20G>C Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2925+8T>C Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.2926-2dup Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.3060+10C>T Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.3060+9dup Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.3061-11C>T Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.539+363G>A Multiple submitters
  • c.*97A>G Multiple submitters
  • p.Ala106= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ala16= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ala25= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ala41= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ala47= Multiple submitters Cardiovascular phenotype
  • p.Ala574= Multiple submitters Cardiovascular phenotype
  • p.Ala603= Multiple submitters Cardiovascular phenotype
  • p.Ala78= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ala862= Multiple submitters Cardiovascular phenotype
  • p.Ala96= Multiple submitters Cardiovascular phenotype
  • p.Arg35= Multiple submitters Cardiovascular phenotype
  • p.Arg776= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg913= Multiple submitters Cardiovascular phenotype
  • p.Arg988= Multiple submitters Cardiovascular phenotype
  • p.Asn1014= Multiple submitters Cardiovascular phenotype
  • p.Asn225= Multiple submitters Cardiovascular phenotype
  • p.Asn228= Multiple submitters Cardiovascular phenotype
  • p.Asn461= Multiple submitters Cardiovascular phenotype
  • p.Asn976= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Asp160= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Asp315= Multiple submitters Cardiovascular phenotype
  • p.Asp646= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Cys525= Multiple submitters Cardiovascular phenotype
  • p.Gln430= Multiple submitters Cardiovascular phenotype
  • p.Gln938= Multiple submitters Cardiovascular phenotype
  • p.Glu167= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu343= Multiple submitters Cardiovascular phenotype
  • p.Glu347= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu447= Multiple submitters Cardiovascular phenotype
  • p.Glu799= Multiple submitters Cardiovascular phenotype
  • p.Glu985= Multiple submitters Cardiovascular phenotype
  • p.Gly112= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Gly132= Multiple submitters Cardiovascular phenotype
  • p.Gly237= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Gly316= Multiple submitters Cardiovascular phenotype
  • p.Gly384= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Gly559= Multiple submitters Cardiovascular phenotype
  • p.Gly82= Multiple submitters Cardiovascular phenotype
  • p.Gly83= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Gly85= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.His1021= Multiple submitters Cardiovascular phenotype
  • p.His183= Multiple submitters Cardiovascular phenotype
  • p.His258= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.His531= Multiple submitters Cardiovascular phenotype
  • p.His629= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.His743= Multiple submitters Cardiovascular phenotype
  • p.His847= Multiple submitters Cardiovascular phenotype
  • p.Ile308= Multiple submitters Cardiovascular phenotype
  • p.Ile459= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ile917= Multiple submitters Cardiovascular phenotype
  • p.Ile931= Multiple submitters Cardiovascular phenotype
  • p.Leu1032= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu116Pro Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu173= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu186= Multiple submitters Cardiovascular phenotype
  • p.Leu249= Multiple submitters Cardiovascular phenotype
  • p.Leu288= Multiple submitters Cardiovascular phenotype
  • p.Leu450= Multiple submitters Cardiovascular phenotype
  • p.Leu450Phe Multiple submitters Cardiovascular phenotype
  • p.Leu572= Multiple submitters Cardiovascular phenotype
  • p.Leu677= Multiple submitters Cardiovascular phenotype
  • p.Leu691= Multiple submitters Cardiovascular phenotype
  • p.Leu706= Multiple submitters Cardiovascular phenotype
  • p.Leu768= Multiple submitters Cardiovascular phenotype
  • p.Leu769= Multiple submitters Cardiovascular phenotype
  • p.Leu835= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu86= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Leu932= Multiple submitters Cardiovascular phenotype
  • p.Leu971= Multiple submitters Cardiovascular phenotype
  • p.Leu998= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Lys200= Multiple submitters Cardiovascular phenotype
  • p.Lys682= Multiple submitters Cardiovascular phenotype
  • p.Phe230= Multiple submitters Cardiovascular phenotype
  • p.Phe535= Multiple submitters Cardiovascular phenotype
  • p.Phe557= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Phe901= Multiple submitters Cardiovascular phenotype
  • p.Pro13= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Pro145= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Pro275= Multiple submitters Cardiovascular phenotype
  • p.Pro39= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Pro403= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Pro440= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Pro48= Multiple submitters Cardiovascular phenotype
  • p.Pro516= Multiple submitters Cardiovascular phenotype
  • p.Pro614= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ser158= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ser219= Multiple submitters Cardiovascular phenotype
  • p.Ser678Asn Multiple submitters Cardiovascular phenotype
  • p.Ser767= Multiple submitters Cardiovascular phenotype
  • p.Ser779= Multiple submitters Cardiovascular phenotype
  • p.Ser936= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Thr121= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Thr174= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Thr404= Multiple submitters Cardiovascular phenotype
  • p.Thr87= Multiple submitters Cardiovascular phenotype
  • p.Thr989= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr1040= Multiple submitters Cardiovascular phenotype
  • p.Tyr270= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr435= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr436= Multiple submitters Cardiovascular phenotype
  • p.Tyr460= Multiple submitters Cardiovascular phenotype
  • p.Tyr619= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr712= Multiple submitters Cardiovascular phenotype
  • p.Tyr874= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Tyr952= Multiple submitters Cardiovascular phenotype
  • p.Val454= Multiple submitters Cardiovascular phenotype
  • p.Val57= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Val637= Multiple submitters Cardiovascular phenotype
  • p.Val95= Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.1017+14T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1017+16_1017+20del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1017+160T>C Single submitter
  • c.1017+18C>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1018-15A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1018-19C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1018-6C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1018-8C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+11G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+12T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+13T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+14A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+15dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+16T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1049+207A>G Single submitter
  • c.1049+76A>G Single submitter
  • c.1050-183A>T Single submitter
  • c.1102+12T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1102+15A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1102+20C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1102+9A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1103-14C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1103-15G>T Single submitter
  • c.1253+12T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+17dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+19G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+19G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+8A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+8A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1254-11T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1254-12T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1254-19G>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1254-4A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1254-54A>G Single submitter
  • c.1332+11C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1332+13T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-13T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-17T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-18A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-18A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-19A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-19A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1333-309G>T Single submitter
  • c.1453+10G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1453+15_1453+16del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1453+19C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1453+20A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1453+20dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1453+331G>T Single submitter
  • c.1453+8C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1454-13T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1454-17T>A Single submitter
  • c.1454-19_1454-18del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1454-20_1454-18del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1454-6A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1610+12G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1610+13T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1610+14T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1610+16C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1610+20T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1610+8A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1611-14T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1611-17T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1611-9dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+10C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+11T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+16C>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+20A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+7T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1699-11T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1699-167_1699-162del Single submitter
  • c.1699-16C>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1699-71_1699-69dup Single submitter
  • c.1776+9T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-12T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-13T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-14_1777-13insA Single submitter
  • c.1777-15_1777-14insATA Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-15_1777-14insATT Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-16_1777-14del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-17dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-18A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-18A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-19T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-20_1777-14del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-21_1777-17del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-7T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-9T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1934+140_1934+141insATA Single submitter
  • c.1934+17_1934+19del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1934+8T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1935-19T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2011+10T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2011+12_2011+13dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2011+149T>C Single submitter
  • c.2011+15A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-11T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-15_2012-12del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-15G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-17T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-18C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-20T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2012-7T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+13_2184+14dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+14T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+15A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+15A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+17C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+18A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+7A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+8A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2185-17_2185-16del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2185-7A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+12C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+14A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+15T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+17T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+20G>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+8A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+9T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-11T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-12A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-17T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-18A>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-19A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-4G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-5T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-6del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2345-9T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2487+20A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2487+21_2487+23del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-14A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-17T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-18A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-19_2488-16del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-22_2488-16del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-7_2488-4del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-7_2488-5del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2603+9T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2604-15G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2604-15G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2604-19G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+10A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+10A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+11_2690+13del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+11T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+12C>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+14A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+15T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+20T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2691-18A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2691-4T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2691-6A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2691-6A>T Single submitter capillary malformation-arteriovenous malformation syndrome

Uncertain significance 692

Showing the top 300 by review status; the full set is in the sitemap.

  • c.2759-3_2759-2del Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.828+5G>A Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • c.829-10T>A Multiple submitters Cardiovascular phenotype
  • p.Ala115Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala115Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala125Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala23Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala273Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala29Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala32Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala40Ser Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala40Thr Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala470Thr Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala558Glu Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala804Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala80Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala84Pro Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala908Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala96Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala98Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg1010Gln Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg1016Cys Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg194Cys Multiple submitters capillary malformation-arteriovenous malformation 1 ⚠
  • p.Arg196Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg283His Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg341Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg391Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg391Trp Multiple submitters capillary malformation-arteriovenous malformation 1 ⚠
  • p.Arg414Gln Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg427Gly Multiple submitters Cardiovascular phenotype
  • p.Arg465Leu Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg512Gln Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg579Gln Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg674His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg679Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg966His Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Arg993Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg993His Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn407Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn539His Multiple submitters Cardiovascular phenotype ⚠
  • p.Asn916Ser Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp113Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp455Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp669Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp816Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Cys34Arg Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Cys828Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln223His Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gln592Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu458Ala Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu551Asp Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Glu721Lys Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Glu9Asp Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly1017Ser Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly112Ala Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly112Arg Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly133Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly151Arg Multiple submitters Cardiovascular phenotype
  • p.Gly434Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly82Arg Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly82Trp Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly83Glu Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly85Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly85Arg Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Gly88Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.His552Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.His629Leu Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ile331Thr Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ile356Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile730Thr Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ile821Lys Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
  • p.Ile821Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile909Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Leu1033Pro Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Leu124Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu364Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu620Pro Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Leu81Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu81Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Leu849Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu991Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys118Arg Multiple submitters capillary malformation-arteriovenous malformation 1 ⚠
  • p.Lys118Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys200Met Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Lys358Arg Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Lys37Arg Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Lys588Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Met235Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Met306Thr Multiple submitters RASA1-related disorder ⚠
  • p.Met410Val Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Met443Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Phe548Leu Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro135Thr Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro138Ala Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro138Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro144Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro145His Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro162Ala Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro31Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro31Ser Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro31Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro48Arg Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro538Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro562Gln Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro697Ala Multiple submitters capillary malformation-arteriovenous malformation 1 ⚠
  • p.Pro697Thr Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Pro958Ser Multiple submitters Cardiovascular phenotype
  • p.Pro981Leu Multiple submitters capillary malformation-arteriovenous malformation syndrome
  • p.Ser158Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser203Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser523Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ser693Gly Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ser724Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser724Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser767Leu Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ser76Ile Multiple submitters Cardiovascular phenotype
  • p.Ser817Ala Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ser817Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr1041Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr15Ile Multiple submitters capillary malformation-arteriovenous malformation 1 ⚠
  • p.Thr178Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr189Met Multiple submitters capillary malformation-arteriovenous malformation 1 ⚠
  • p.Thr404Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr404Met Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Thr55Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr612Ala Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Thr612Ile Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Thr657Ile Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Thr989Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Tyr30Cys Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Tyr480His Multiple submitters Cardiovascular phenotype ⚠
  • p.Tyr49Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Val1003Leu Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Val1003Met Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Val1022Ile Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Val259Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Val368Gly Multiple submitters Cardiovascular phenotype
  • p.Val530Ile Multiple submitters capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Val625Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Val737Ala Multiple submitters Cardiovascular phenotype ⚠
  • c.1018-3T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1018-4T>C Single submitter
  • c.1049+5G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1102+4C>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1102+6T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+5A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1253+6T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1332+3C>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1453+3_1453+6del Single submitter
  • c.1453+6T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1454-12_1454-7del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1454-7T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1610+3A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+2dup Single submitter
  • c.1698+3A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+5G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+6A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1698+7_1698+8delinsCA Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1776+4A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1776+5A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1777-3T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.1934+3A>C Single submitter
  • c.1934+4A>G Single submitter
  • c.1934+5G>A Single submitter
  • c.1934+6T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2011+2dup Single submitter
  • c.2011+4A>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.2011+4A>T Single submitter capillary malformation-arteriovenous malformation 1
  • c.2011+6T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2184+5T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2185-5T>G Single submitter capillary malformation-arteriovenous malformation 1
  • c.2344+4T>C Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2344+6G>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2488-8T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2603+3A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2603+4A>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+4A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2690+5G>A Single submitter capillary malformation-arteriovenous malformation 1
  • c.2691-3_2691-2insT Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2759-12A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2759-5T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2847+3A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.2926-2_2927dup Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.3060+1G>T Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.3060+2T>C Single submitter Cardiovascular phenotype
  • c.539+298G>A Single submitter basal cell carcinoma, susceptibility to, 1
  • c.539+2dup Single submitter capillary malformation-arteriovenous malformation 1
  • c.539+3A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.539+6T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.540-3del Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.692+6T>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.899+6T>A Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.900-14A>G Single submitter capillary malformation-arteriovenous malformation syndrome
  • c.-179A>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.*267C>G Single submitter capillary malformation-arteriovenous malformation 1
  • c.*271A>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.*298T>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.*572C>A Single submitter capillary malformation-arteriovenous malformation 1
  • c.*577T>C Single submitter capillary malformation-arteriovenous malformation 1
  • c.*606G>A Single submitter capillary malformation-arteriovenous malformation 1
  • c.*748A>T Single submitter capillary malformation-arteriovenous malformation 1
  • c.*852A>G Single submitter capillary malformation-arteriovenous malformation 1
  • c.*96C>G Single submitter capillary malformation-arteriovenous malformation 1
  • p.93AGVAGAA[1] Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.93AGVAGAA[3] Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala100_Ala108del Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala1004Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala100Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala103Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala106_Val107insAlaGlyValAlaGlyAlaAla Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala108Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala115Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala125Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala148Glu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala148Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala148Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala170Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala18Asp Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala18Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala234Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala23Pro Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala23Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala25Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala29Pro Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala29Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala29Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala40Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala45Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala4Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala502Phe Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala502Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala565Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala6_Glu10del Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala6_Glu9del Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Ala630Pro Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala630Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala65Pro Single submitter Cardiovascular phenotype ⚠
  • p.Ala74Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala78Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala794Pro Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala80Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala813Val Single submitter Cardiovascular phenotype
  • p.Ala84Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala84Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala92Val Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala948Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala96Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Ala99_Ala100insGlyValAlaGlyAlaAla Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg1047_Ter1048= Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg1047_Ter1048insGluLeuLeuGlnGlnLysGlnAsnGlnTyrThrLysThrAsnAspValArg Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg194His Single submitter capillary malformation-arteriovenous malformation 1 ⚠
  • p.Arg196Thr Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg207Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg211Gln Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg211Gly Single submitter capillary malformation-arteriovenous malformation 1 ⚠
  • p.Arg283Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg283Ser Single submitter Cardiovascular phenotype ⚠
  • p.Arg285Gln Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg35Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg35Trp Single submitter Cardiovascular phenotype
  • p.Arg398Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg414Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg464Cys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg489His Single submitter Cardiovascular phenotype ⚠
  • p.Arg579Trp Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg591Cys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg591His Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg707Cys Single submitter capillary malformation-arteriovenous malformation 1 ⚠
  • p.Arg707His Single submitter capillary malformation-arteriovenous malformation 1 ⚠
  • p.Arg709Gln Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg894Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg894Lys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg894Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg913Gln Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg966_Met967delinsLeu Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Arg966Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg988Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Arg988Lys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn228Ser Single submitter Cardiovascular phenotype ⚠
  • p.Asn363Asp Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn381_Thr382insArgProSerAspAsn Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asn381Asp Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn393Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn406Lys Single submitter capillary malformation-arteriovenous malformation syndrome
  • p.Asn451Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn492Lys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn577Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn587Ser Single submitter capillary malformation-arteriovenous malformation 1 ⚠
  • p.Asn652Thr Single submitter Cardiovascular phenotype ⚠
  • p.Asn838Ser Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asn844Lys Single submitter Cardiovascular phenotype ⚠
  • p.Asn911Lys Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp1007Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp157Asn Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp210Asn Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp251Glu Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp280Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp305Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp334His Single submitter capillary malformation-arteriovenous malformation syndrome ⚠
  • p.Asp344Gly Single submitter capillary malformation-arteriovenous malformation syndrome ⚠