List of variants reported as pathogenic for capillary malformation-arteriovenous malformation syndrome

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 189

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HGVS	dbSNP	gnomAD frequency
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter)	rs898898802	0.00004
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)	rs1204340475	0.00001
NM_002890.3(RASA1):c.2333dup (p.Ser779fs)	rs1347210621	0.00001
NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter)	rs1463885690	0.00001
NM_002890.3(RASA1):c.261_262del (p.Gly89fs)	rs1384480619	0.00001
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)	rs1279971868	0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
NC_000005.10:g.(?_87268432)_(87353255_?)del
NC_000005.10:g.(?_87268442)_(87353245_?)del
NC_000005.10:g.87341292_87341296del
NC_000005.9:g.(?_86564269)_(86564827_?)del
NC_000005.9:g.(?_86564269)_(86659341_?)del
NC_000005.9:g.(?_86564269)_(86686700_?)del
NC_000005.9:g.(?_86633771)_(86659341_?)del
NC_000005.9:g.(?_86669960)_(86670753_?)del
NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del)	rs2140579005
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs)	rs1554048061
NM_002890.2:c.540-406_692+21735del
NM_002890.3(RASA1):c.1024dup (p.Glu342fs)	rs1554045819
NM_002890.3(RASA1):c.1027_1037del (p.Glu342_Glu343insTer)
NM_002890.3(RASA1):c.1050-1G>A
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)	rs1758886343
NM_002890.3(RASA1):c.1053G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1103-1G>T	rs1759083657
NM_002890.3(RASA1):c.1134del (p.Ser379fs)
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs)	rs1759087658
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter)	rs1210180190
NM_002890.3(RASA1):c.1220_1223del (p.Asn407fs)
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)	rs1759093156
NM_002890.3(RASA1):c.1231del (p.Met411fs)
NM_002890.3(RASA1):c.1246del (p.Tyr416fs)
NM_002890.3(RASA1):c.1247dup (p.Tyr416Ter)
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter)	rs1561300506
NM_002890.3(RASA1):c.1257dup (p.Gly420fs)	rs1759404954
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter)	rs975191415
NM_002890.3(RASA1):c.1319del (p.Pro440fs)	rs2112431809
NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)
NM_002890.3(RASA1):c.1332+2T>G	rs1759410564
NM_002890.3(RASA1):c.1333-1G>T
NM_002890.3(RASA1):c.1336C>T (p.Gln446Ter)	rs2112456363
NM_002890.3(RASA1):c.1339_1352del (p.Gln446_Glu447insTer)
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs)	rs1060503439
NM_002890.3(RASA1):c.13_37del (p.Glu5fs)
NM_002890.3(RASA1):c.1429A>T (p.Lys477Ter)
NM_002890.3(RASA1):c.1453+2dup
NM_002890.3(RASA1):c.1453_1453+5del
NM_002890.3(RASA1):c.1460del (p.Gly487fs)	rs2112459497
NM_002890.3(RASA1):c.1464del (p.Lys488fs)
NM_002890.3(RASA1):c.1490dup (p.Leu497fs)
NM_002890.3(RASA1):c.1507C>T (p.Gln503Ter)
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter)	rs1554048066
NM_002890.3(RASA1):c.1556T>G (p.Leu519Ter)
NM_002890.3(RASA1):c.1561_1562dup (p.Asp521fs)
NM_002890.3(RASA1):c.1571_1572insCT (p.Cys525fs)
NM_002890.3(RASA1):c.1577del (p.Ser526fs)
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs)	rs1760265136
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr)	rs137853217
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter)	rs747745016
NM_002890.3(RASA1):c.172_173del (p.Ala58fs)	rs2112222433
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs)	rs1761153296
NM_002890.3(RASA1):c.1916C>G (p.Ser639Ter)
NM_002890.3(RASA1):c.1926dup (p.Val643fs)	rs2112485022
NM_002890.3(RASA1):c.1932dup (p.Asp645Ter)
NM_002890.3(RASA1):c.1934+2T>G	rs1761160392
NM_002890.3(RASA1):c.1934_1934+1del
NM_002890.3(RASA1):c.1984_1988del (p.Thr662fs)	rs2112486996
NM_002890.3(RASA1):c.1990_1994del (p.Lys664fs)
NM_002890.3(RASA1):c.1995_1999del (p.Ser665fs)	rs2112487030
NM_002890.3(RASA1):c.2008dup (p.Ile670fs)
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter)	rs1554049394
NM_002890.3(RASA1):c.2041_2042dup (p.Gln681fs)
NM_002890.3(RASA1):c.2062G>T (p.Glu688Ter)
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter)	rs1554049422
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)	rs863223718
NM_002890.3(RASA1):c.2136C>G (p.Tyr712Ter)
NM_002890.3(RASA1):c.2149dup (p.Ile717fs)	rs1561322357
NM_002890.3(RASA1):c.217G>T (p.Gly73Ter)
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter)	rs1761341113
NM_002890.3(RASA1):c.2200del (p.Glu734fs)
NM_002890.3(RASA1):c.2239C>T (p.Gln747Ter)
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs)	rs1580386963
NM_002890.3(RASA1):c.2275_2276del (p.Ile759fs)
NM_002890.3(RASA1):c.231_232del (p.Ala78fs)
NM_002890.3(RASA1):c.2325_2326del (p.Asp775fs)
NM_002890.3(RASA1):c.2329_2330del (p.Glu777fs)	rs2112492304
NM_002890.3(RASA1):c.2345-1G>C
NM_002890.3(RASA1):c.2388del (p.Thr796_Leu797insTer)
NM_002890.3(RASA1):c.2390del (p.Thr796_Leu797insTer)	rs2112495582
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter)	rs1761469547
NM_002890.3(RASA1):c.2422C>T (p.Gln808Ter)	rs1396225514
NM_002890.3(RASA1):c.2422_2423del (p.Gln808fs)	rs2112495617
NM_002890.3(RASA1):c.2450_2451del (p.Ser817fs)	rs886041400
NM_002890.3(RASA1):c.2451dup (p.Ile818fs)	rs1761473113
NM_002890.3(RASA1):c.2460del (p.Lys820_Ile821insTer)
NM_002890.3(RASA1):c.2474dup (p.Gln826fs)
NM_002890.3(RASA1):c.2500_2501del (p.Lys834fs)
NM_002890.3(RASA1):c.2523_2529del (p.Asn842fs)
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter)	rs878854569
NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs)	rs1761580770
NM_002890.3(RASA1):c.2532_2536del (p.Leu845fs)
NM_002890.3(RASA1):c.2534_2535insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT (p.Leu845delinsPhePhePhePhePhePhePheXaaXaaXaaXaaPheTer)
NM_002890.3(RASA1):c.2557dup (p.Ser853fs)	rs1554049825
NM_002890.3(RASA1):c.2558_2559del (p.Leu852_Ser853insTer)
NM_002890.3(RASA1):c.2603+1G>A	rs983011713
NM_002890.3(RASA1):c.2616T>G (p.Tyr872Ter)
NM_002890.3(RASA1):c.2620dup (p.Tyr874fs)
NM_002890.3(RASA1):c.2625del (p.Cys876fs)
NM_002890.3(RASA1):c.2645del (p.Gln882fs)
NM_002890.3(RASA1):c.2648_2655del (p.His883fs)	rs2112500780
NM_002890.3(RASA1):c.2655G>A (p.Trp885Ter)	rs2112500793
NM_002890.3(RASA1):c.2691-1G>T
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs)	rs886041232
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter)	rs1554050230
NM_002890.3(RASA1):c.2724del (p.Ile909fs)
NM_002890.3(RASA1):c.2788_2789del (p.Leu930fs)
NM_002890.3(RASA1):c.2795dup (p.Leu932fs)
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs)	rs1761994695
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs)	rs1561331089
NM_002890.3(RASA1):c.2873del (p.Pro958fs)	rs1554050584
NM_002890.3(RASA1):c.2891_2894del (p.Lys964fs)	rs2112517213
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer)	rs878854570
NM_002890.3(RASA1):c.2920del (p.Asn976fs)	rs2112517308
NM_002890.3(RASA1):c.2925+1G>T	rs1762099168
NM_002890.3(RASA1):c.2925+1del	rs1762098966
NM_002890.3(RASA1):c.2926-14C>G
NM_002890.3(RASA1):c.2942del (p.Pro981fs)
NM_002890.3(RASA1):c.2968del (p.Asp990fs)
NM_002890.3(RASA1):c.3020_3021insATGA (p.Asp1007delinsGluTer)
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)	rs1762317272
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter)	rs1561333645
NM_002890.3(RASA1):c.3050del (p.Gly1017fs)	rs2112525375
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)	rs1060503440
NM_002890.3(RASA1):c.3091del (p.Glu1031fs)
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter)	rs1187087405
NM_002890.3(RASA1):c.383_384del (p.Leu128fs)
NM_002890.3(RASA1):c.402del (p.Pro136fs)
NM_002890.3(RASA1):c.426C>G (p.Tyr142Ter)
NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)
NM_002890.3(RASA1):c.442dup (p.Ala148fs)	rs751951068
NM_002890.3(RASA1):c.474dup (p.Leu159fs)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)	rs797044451
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter)	rs1753698267
NM_002890.3(RASA1):c.496G>T (p.Glu166Ter)
NM_002890.3(RASA1):c.499del (p.Glu167fs)	rs2112223281
NM_002890.3(RASA1):c.538del (p.Gln180fs)	rs2112223340
NM_002890.3(RASA1):c.539+4A>G
NM_002890.3(RASA1):c.539+4dup
NM_002890.3(RASA1):c.547dup (p.His183fs)
NM_002890.3(RASA1):c.555del (p.Lys185fs)
NM_002890.3(RASA1):c.573_574inv (p.Glu192Ter)
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)	rs1757588488
NM_002890.3(RASA1):c.583del (p.Leu195fs)
NM_002890.3(RASA1):c.611dup (p.Tyr204Ter)
NM_002890.3(RASA1):c.613_617del (p.Leu205fs)	rs1060503441
NM_002890.3(RASA1):c.617_621del (p.Ile206fs)	rs2112366112
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)	rs1554044823
NM_002890.3(RASA1):c.733del (p.Arg245fs)
NM_002890.3(RASA1):c.785del (p.Leu262fs)
NM_002890.3(RASA1):c.78del (p.Ser27fs)
NM_002890.3(RASA1):c.806_810del (p.Leu269fs)
NM_002890.3(RASA1):c.828+5G>T	rs2112369561
NM_002890.3(RASA1):c.829-9G>A	rs1348578241
NM_002890.3(RASA1):c.841A>T (p.Arg281Ter)
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)	rs137853218
NM_002890.3(RASA1):c.902dup (p.Gly304fs)
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)	rs1758098122
NM_002890.3(RASA1):c.957G>A (p.Trp319Ter)
NM_004444.5(EPHB4):c.1039dup (p.Leu347fs)	rs767827881
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter)	rs1484547615
NM_004444.5(EPHB4):c.121C>T (p.Gln41Ter)	rs2116462820
NM_004444.5(EPHB4):c.1788T>A (p.Tyr596Ter)
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)	rs1562969219
NM_004444.5(EPHB4):c.216G>A (p.Trp72Ter)
NM_004444.5(EPHB4):c.2215C>T (p.Arg739Ter)
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter)	rs1331371272
NM_004444.5(EPHB4):c.2389_2392del (p.Phe797fs)
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)	rs776410552
NM_004444.5(EPHB4):c.2424dup (p.Val809fs)
NM_004444.5(EPHB4):c.2484+1G>A	rs927772349
NM_004444.5(EPHB4):c.2484+1G>T	rs927772349
NM_004444.5(EPHB4):c.2484+2dup	rs1584653620
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)	rs769965440
NM_004444.5(EPHB4):c.2605dup (p.Gln869fs)	rs2116413904
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)	rs1562974383
NM_004444.5(EPHB4):c.33del (p.Leu12fs)	rs1562976493
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter)	rs1584666961
NM_004444.5(EPHB4):c.570dup (p.His191fs)	rs1562973614
NM_004444.5(EPHB4):c.632_633del (p.Val211fs)	rs1562973541
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)	rs201816920

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