COL5A1 — 4094 ClinVar variants

Pathogenic 218

• c.1937_1946del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1989+1G>A Multiple submitters COL5A1-related disorders
• c.2034+1G>A Multiple submitters Cardiovascular phenotype
• c.2430+1G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2701-25T>G Multiple submitters COL5A1-related disorders
• p.Ala1834fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg1062Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg1133Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg1257Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg792Ter Multiple submitters COL5A1-related disorders
• p.Arg912Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp1787fs Multiple submitters fibromuscular dysplasia, multifocal
• p.Cys244_Asp245delinsTer Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gln1269Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Glu1571fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Glu284fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Glu302Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly502fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly721fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly967fs Multiple submitters COL5A1-related disorders
• p.Lys455fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro501fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro966fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser1376fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1663-1G>C Single submitter
• c.1720-136_1929del Single submitter Ehlers-Danlos syndrome, classic type
• c.1989+1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2034+2T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2088+5G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2089-7_2089dup Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2386-3C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2800-2A>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2952+1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2953-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3369_3431dup Single submitter Ehlers-Danlos syndrome, classic type
• c.3906+3G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4955-2A>G Single submitter
• c.5371-11_*33delinsATGAAGCAAGC Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.655-1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.786+5G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala108fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala1580fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala36fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala372fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala37Pro Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1106fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Arg1392fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Arg1637fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Arg1765fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Arg231fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Arg76fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Arg924fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asn1586fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asn1779fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asn852fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp1172fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp365fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp398fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Cys1671Tyr Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1110Ter Single submitter
• p.Gln113Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1185Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1205Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1211Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1269fs Single submitter
• p.Gln127Ter Single submitter
• p.Gln1404fs Single submitter COL5A1-related disorders
• p.Gln1428fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1497Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1509Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1643Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1740Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1753Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1809Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln253Ter Single submitter
• p.Gln542Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln547fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln547Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln552Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln597Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln722fs Single submitter
• p.Gln722Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln735fs Single submitter Ehlers-Danlos syndrome, classic type
• p.Gln783fs Single submitter
• p.Gln89Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln911fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln911Ter Single submitter Ehlers-Danlos syndrome, classic type, 2
• p.Gln980Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln987Ter Single submitter
• p.Glu1013Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu1091fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu1091Ter Single submitter
• p.Glu131fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu1401Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Glu1517fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu1719Ter Single submitter Ehlers-Danlos syndrome, classic type
• p.Glu1773fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu1808fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu215Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu289Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu308fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu359Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu403Ter Single submitter
• p.Glu809Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu98Ter Single submitter
• p.Gly1021fs Single submitter
• p.Gly1057fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1072fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1153fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1168Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1189fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1225fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1243fs Single submitter
• p.Gly1252fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1255fs Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Gly1258Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1330fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1363fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1372Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1402fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1405fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1453Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1462fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1492Cys Single submitter
• p.Gly1534fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1543fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1564fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly598fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly715Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly718fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly856fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly868fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly874Glu Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly976fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly997fs Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.His1559fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ile102fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ile1101fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ile1425fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ile1611fs Single submitter Ehlers-Danlos syndrome
• p.Leu1055Ter Single submitter COL5A1-related disorders
• p.Leu1229fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Leu170fs Single submitter
• p.Leu1734delinsArgTyrArgTer Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Leu1767fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Leu25Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Leu25Pro Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Leu974fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Lys1167fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Lys1433fs Single submitter COL5A1-related disorders
• p.Lys1473fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Lys749fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Lys929fs Single submitter
• p.Lys929Ter Single submitter Ehlers-Danlos syndrome, classic type
• p.Lys933fs Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Met1464fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Met1774fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Met1Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Met1Ile Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Met1Val Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Met320fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Met538fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Phe1612fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Phe1820fs Single submitter
• p.Phe887fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1020fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1029fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1109fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1130fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1139fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1187fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1226fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1251fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1263fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1278fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1302fs Single submitter
• p.Pro1304fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1328fs Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Pro1395fs Single submitter
• p.Pro1457fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1494del Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1536fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1553fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1563fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1565fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1569fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro473fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro576fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro720fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro726fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro765fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro771fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ser1547fs Single submitter
• p.Ser1678fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ser1759_Tyr1760insTer Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ser254Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ser293fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ser544fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ser544Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ser578fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Trp165Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Trp1695Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Trp7fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr152Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr1654Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr1744fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr1781fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr236Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr277Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr340Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr75_Arg76delinsTer Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Val1149fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Val1572fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Val1807fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3260_3366+1del No assertion criteria Ehlers-Danlos syndrome, classic type, 1
• c.5137-11T>A No assertion criteria Ehlers-Danlos syndrome, classic type, 1
• p.Cys1639Ser No assertion criteria Ehlers-Danlos syndrome, classic type, 1
• p.Tyr347Ter No assertion criteria COL5A1-related disorder

Pathogenic/Likely pathogenic 21

• c.1332+1G>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2430+1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2952+2_2952+3del Multiple submitters Ehlers-Danlos syndrome
• c.4338+1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.5370+3_5370+6del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.786+1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg1440Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg594Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Arg66Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gln1428Ter Multiple submitters COL5A1-related disorders
• p.Gln1796Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gln714Ter Multiple submitters Ehlers-Danlos syndrome, classic type
• p.Glu1292Lys Multiple submitters Ehlers-Danlos syndrome, classic type
• p.Glu395Ter Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly1024fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly1351fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Gly1489Arg Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly1492Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Leu674fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1253fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr424fs Multiple submitters Ehlers-Danlos syndrome, classic type, 1

Likely pathogenic 120

• c.1720-11T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.5067+1G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.655-1G>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• c.655-2A>T Multiple submitters Ehlers-Danlos syndrome
• c.109+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.110-1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1389+2T>C Single submitter
• c.1431+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1569+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1662+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1663-1G>T Single submitter COL5A1-related disorders
• c.1720-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1774-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1828-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
• c.2088+2T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2133_2133+2del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2134-2_2150dup Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2331+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2429_2430+26del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2431-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2484+1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2646+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2700+2T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2701-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.278-1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2899-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2899-2A>T Single submitter COL5A1-related disorders
• c.3006+1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3006+1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3114+1G>A Single submitter Ehlers-Danlos syndrome, classic type
• c.3205-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3205-1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3529-1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3690+1G>T Single submitter
• c.4014+1G>A Single submitter Ehlers-Danlos syndrome
• c.4015-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4069-1G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4231-2A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4338+2T>C Single submitter
• c.4393-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4393-4_4398del Single submitter Ehlers-Danlos syndrome
• c.4554+1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4646dupG Single submitter Ehlers-Danlos syndrome
• c.474_491+24del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4955-1G>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.5136_5136+8delinsTGAATTCCCAC Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.5136+68_5136+73delinsT Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.655-1917_690del Single submitter Ehlers-Danlos syndrome, classic type
• c.655-1G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.655-2A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.655-2del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.786+5G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.925-2A>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala1356fs Single submitter
• p.Asp1603fs Single submitter COL5A1-related disorders
• p.Asp1717_Glu1719del Single submitter Large joint dislocations
• p.Asp759fs Single submitter COL5A1-related disorders
• p.Cys1639Tyr Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Cys1680Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Cys1835Gly Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1176Ter Single submitter
• p.Gln1230Ter Single submitter Ehlers-Danlos syndrome
• p.Gln1509fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1727Ter Single submitter COL5A1-related disorders
• p.Gln545Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln783Ter Single submitter
• p.Glu1609Ter Single submitter COL5A1-related disorders
• p.Glu281fs Single submitter connective tissue disorder
• p.Glu830Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1039Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1087Ter Single submitter Ehlers-Danlos syndrome
• p.Gly1138Glu Single submitter
• p.Gly1204fs Single submitter COL5A1-related disorders
• p.Gly1450Arg Single submitter COL5A1-related disorders
• p.Gly1468Arg Single submitter
• p.Gly1477Asp Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Gly1607fs Single submitter
• p.Gly1676fs Single submitter COL5A1-related disorders
• p.Gly203Val Single submitter Congenital hip dislocation
• p.Gly478Ala Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly481Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly493Arg Single submitter COL5A1-related disorders
• p.Gly499Ala Single submitter
• p.Gly514Phe Single submitter fibromuscular dysplasia, multifocal
• p.Gly637Val Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly685fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly781fs Single submitter COL5A1-related disorders
• p.Gly793Glu Single submitter COL5A1-related disorder
• p.Gly817fs Single submitter
• p.Gly823Asp Single submitter COL5A1-related disorders
• p.Gly838Arg Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly922Val Single submitter
• p.Ile376fs Single submitter COL5A1-related disorders
• p.Leu1615fs Single submitter
• p.Leu1767Pro Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Leu19fs Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Lys1410Asn Single submitter
• p.Lys1479fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Phe1766_Pro1780del Single submitter COL5A1-related disorders
• p.Phe1829Cys Single submitter
• p.Pro1127fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1254fs Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1271fs Single submitter Ehlers-Danlos syndrome
• p.Pro1383fs Single submitter
• p.Pro1526fs Single submitter COL5A1-related disorders
• p.Pro21_Leu27del Single submitter COL5A1-related disorders
• p.Pro471fs Single submitter Cardiovascular phenotype
• p.Pro968fs Single submitter cutis laxa
• p.Thr567fs Single submitter fibromuscular dysplasia, multifocal
• p.Tyr1747Ter Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Tyr91Ter Single submitter
• p.Val1602fs Single submitter Ehlers-Danlos syndrome, classic type, 2
• p.Val172Asp Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4176+1G>T No assertion criteria Ehlers-Danlos syndrome, classic type, 1
• p.Gln735Ter No assertion criteria COL5A1-related disorder
• p.Gly1270Ser No assertion criteria familial thoracic aortic aneurysm and aortic dissection
• p.Gly1378Ser No assertion criteria Ehlers-Danlos syndrome, classic type
• p.Gly835Ala No assertion criteria familial thoracic aortic aneurysm and aortic dissection
• p.Gly856Ser No assertion criteria familial thoracic aortic aneurysm and aortic dissection
• p.Thr1242fs No assertion criteria COL5A1-related disorder

Conflicting classifications of pathogenicity 429

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

• c.1495-7T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1720-3T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1827+11C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2089-8G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2134-4G>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2188-8C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2331+16G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2430+4A>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2484+6C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2593-3C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2646+18T>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2746-5T>C Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2953-10C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3007-19A>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3204+3G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3205-7T>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3259-5C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3529-4G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.3906+10C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4068+7G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.5136+73G>A Single submitter Ehlers-Danlos syndrome, classic type
• c.5137-8C>T Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.5371-8T>C Single submitter Ehlers-Danlos syndrome, classic type
• c.655-9_655-7del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.787-15G>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.-17G>A Single submitter
• p.416YYDP[1] Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Ala1044Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1086= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala1086Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1098Thr Single submitter fibromuscular dysplasia, multifocal ⚠
• p.Ala1262= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala1262Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1290Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ala1290Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala12Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ala1356= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala1356Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1398Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1430Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ala1589Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1605Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ala1636Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1736Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1755Thr Single submitter Ehlers-Danlos syndrome, classic type ⚠
• p.Ala1756Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1784Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ala1784Thr Single submitter connective tissue disorder ⚠
• p.Ala1823Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala1823Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala247= Single submitter Ehlers-Danlos syndrome
• p.Ala247Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ala372Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala374Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala381Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala397Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala436Val Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ala532Val Single submitter fibromuscular dysplasia, multifocal ⚠
• p.Ala546Val Single submitter COL5A1-related disorder
• p.Ala636Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala74Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ala797Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala81Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala893Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala93Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ala9Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1014Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1014His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg10Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1133Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Arg1203= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Arg1257Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1440Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1503Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1503His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg156Trp Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Arg1584Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1585Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1585Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1585Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1627Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1627Trp Single submitter fibromuscular dysplasia, multifocal ⚠
• p.Arg1637Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1637His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1709Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1709His Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Arg1732Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Arg1765Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1765His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg1783His Single submitter Ehlers-Danlos syndrome, classic type ⚠
• p.Arg193Cys Single submitter Cardiovascular phenotype ⚠
• p.Arg210Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg231Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg231Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg410Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg449Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg503Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg503His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg525Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg525Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg609Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg611Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg611Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg630Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Arg630Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg681His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg848Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg909Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Arg924Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Arg924Trp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn1076Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn159Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn1699Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn1721Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn176His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn176Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Asn1818Asp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn1818Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn258= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asn388Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn50Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn725Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asn852Ile Single submitter connective tissue disorder ⚠
• p.Asn852Ser Single submitter Ehlers-Danlos syndrome, classic type ⚠
• p.Asn894Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp1331Asn Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp1359Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Asp1458Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp151Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp151Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Asp1594= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp1595Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp1606= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp1648Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp1648Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp1684Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp1761Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp1771Asn Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp1771Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Asp1777Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp192Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp195Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp200Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp220Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Asp243Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp256Asn Single submitter ⚠
• p.Asp282= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Asp337Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Asp382Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp422Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp422His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp510Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp531Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Asp660Asn Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp666Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Asp99Tyr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Cys1645Tyr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Cys1746Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gln113Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gln123Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gln1404Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gln1449= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gln1643Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gln1825Ter Single submitter Ehlers-Danlos syndrome, classic type ⚠
• p.Gln879Lys Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu1013Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu1077= Single submitter Ehlers-Danlos syndrome
• p.Glu1286Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu1289Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu1313Asp Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu1599Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu238Gly Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu269Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu359Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu362Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu375Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu403Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Glu414Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu451Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu468Lys Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu584= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu641Lys Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Glu668Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Glu809Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu863Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Glu983Lys Single submitter fibromuscular dysplasia, multifocal ⚠
• p.Glu98Lys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1087Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1114Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1117Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1162Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1198= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1198Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly124Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1261Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1288= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1300Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1312= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1321Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1414Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1414Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1459Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1462= Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Gly1462Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Gly1598= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1613Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly163Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly1676= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly1788Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Gly268= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly268Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly268Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Gly328Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly358= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly396Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Gly431Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Gly431Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly447Glu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly450= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly478Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly514Ser Single submitter COL5A1-related disorders ⚠
• p.Gly529= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly579Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Gly778Cys Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Gly808= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly811= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Gly883= Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Gly940Ser Single submitter COL5A1-related disorders ⚠
• p.Gly997Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.His1559Pro Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.His1739Gln Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.His1745Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.His49Tyr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ile1573Val Single submitter fibromuscular dysplasia, multifocal
• p.Ile1578Met Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ile1611Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Ile168Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ile204Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ile461= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Ile800Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Ile885Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Leu1071Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Leu1451Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Leu1593= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Leu170Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Leu27_Leu28dup Single submitter familial thoracic aortic aneurysm and aortic dissection
• p.Leu28del Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Leu28dup Single submitter Ehlers-Danlos syndrome
• p.Leu28Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Leu355Phe Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Lys1391Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Lys1792Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Lys1797Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Lys329= Single submitter Ehlers-Danlos syndrome
• p.Met1816Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Met521Val Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Phe155Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Phe632= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1019Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1020Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1022Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1023= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1029Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1041Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1079Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1083Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1115Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1143Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1164Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1184Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1217Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1263Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1271Leu Single submitter fibromuscular dysplasia, multifocal ⚠
• p.Pro1296Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1302= Single submitter COL5A1-related disorders
• p.Pro1316Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1323Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Pro1328Arg Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1340= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1350Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro136Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1371Ala Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1385= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1388Ser Single submitter fibromuscular dysplasia, multifocal ⚠
• p.Pro1394Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1400Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1418Ser Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1436Leu Single submitter fibromuscular dysplasia, multifocal ⚠
• p.Pro1457Leu Single submitter Ehlers-Danlos syndrome, classic type ⚠
• p.Pro1460Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
• p.Pro147= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1478Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1494Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro149Leu Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1508Thr Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1526= Single submitter Ehlers-Danlos syndrome, classic type, 1
• p.Pro1526Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1529His Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1536Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1538Leu Single submitter Ehlers-Danlos syndrome, classic type, 1 ⚠

Benign 432

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

• c.109+37G>A Multiple submitters
• c.110-34C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.1164+134A>C Multiple submitters
• c.1164+87T>A Multiple submitters
• c.1165-39G>A Multiple submitters
• c.1332+25C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.1332+46T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.1332+92C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1432-24C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.1432-5T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.1569+16A>G Multiple submitters fibromuscular dysplasia, multifocal
• c.1569+27G>C Multiple submitters
• c.1570-59T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1720-111G>A Multiple submitters
• c.1720-157C>T Multiple submitters
• c.1720-158C>G Multiple submitters
• c.1720-34C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.1720-47C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.1720-48T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.1774-131C>T Multiple submitters
• c.1774-73A>G Multiple submitters
• c.1827+45G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.1828-170C>T Multiple submitters
• c.1881+292G>A Multiple submitters
• c.1882-56G>A Multiple submitters
• c.1935+127G>C Multiple submitters
• c.1935+133A>T Multiple submitters
• c.1936-108G>A Multiple submitters
• c.1936-119G>T Multiple submitters
• c.1936-146T>C Multiple submitters
• c.1936-21G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.1936-227C>T Multiple submitters
• c.1936-35C>A Multiple submitters fibromuscular dysplasia, multifocal
• c.1936-54A>C Multiple submitters
• c.1990-109C>T Multiple submitters
• c.1990-219G>A Multiple submitters
• c.2088+73G>A Multiple submitters
• c.2088+91C>T Multiple submitters
• c.2089-210A>G Multiple submitters
• c.2134-116T>C Multiple submitters
• c.2134-124G>A Multiple submitters
• c.2187+106A>T Multiple submitters
• c.2232+36C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2233-142G>C Multiple submitters
• c.2233-62G>T Multiple submitters
• c.2286+66A>G Multiple submitters
• c.2287-203C>T Multiple submitters
• c.2386-134A>G Multiple submitters
• c.2386-174C>T Multiple submitters
• c.2386-7C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2430+20C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2431-122A>G Multiple submitters
• c.2431-172T>C Multiple submitters
• c.2431-25G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.2484+118G>A Multiple submitters
• c.2485-146T>C Multiple submitters
• c.2485-147G>C Multiple submitters
• c.2485-160C>T Multiple submitters
• c.2485-183T>A Multiple submitters
• c.2485-191C>A Multiple submitters
• c.2485-191C>T Multiple submitters
• c.2485-33T>G Multiple submitters
• c.2485-40C>T Multiple submitters
• c.2592+16C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2592+75G>A Multiple submitters
• c.2593-45G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.2646+126T>C Multiple submitters
• c.2646+27C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2700+46C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2701-103C>A Multiple submitters
• c.2701-22C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2745+66A>G Multiple submitters
• c.277+57A>G Multiple submitters
• c.277+74A>G Multiple submitters
• c.2799+13C>A Multiple submitters fibromuscular dysplasia, multifocal
• c.2799+22C>T Multiple submitters
• c.2800-172T>C Multiple submitters
• c.2800-18C>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2844+41G>T Multiple submitters
• c.2845-117A>G Multiple submitters
• c.2845-37A>G Multiple submitters fibromuscular dysplasia, multifocal
• c.2845-70A>G Multiple submitters
• c.2898+116G>A Multiple submitters
• c.2898+163G>T Multiple submitters
• c.2898+179C>T Multiple submitters
• c.2952+11A>T Multiple submitters fibromuscular dysplasia, multifocal
• c.3006+179C>A Multiple submitters
• c.3007-36C>G Multiple submitters
• c.3258+150A>G Multiple submitters
• c.3258+156A>G Multiple submitters
• c.3259-22C>T Multiple submitters
• c.3366+52G>A Multiple submitters
• c.3367-280T>G Multiple submitters
• c.3367-30G>A Multiple submitters
• c.3474+64G>A Multiple submitters
• c.3475-179A>C Multiple submitters
• c.3475-208G>T Multiple submitters
• c.3475-228A>G Multiple submitters
• c.3475-299A>G Multiple submitters
• c.3475-36A>C Multiple submitters fibromuscular dysplasia, multifocal
• c.3475-42G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3475-66C>T Multiple submitters
• c.3528+155G>A Multiple submitters
• c.3528+234C>T Multiple submitters
• c.3528+43G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.3528+46G>C Multiple submitters fibromuscular dysplasia, multifocal
• c.3528+55G>A Multiple submitters
• c.3528+72T>A Multiple submitters
• c.3528+95G>A Multiple submitters
• c.3529-172G>A Multiple submitters
• c.3529-60C>G Multiple submitters
• c.3690+44C>T Multiple submitters
• c.3691-213T>C Multiple submitters
• c.3691-237T>A Multiple submitters
• c.3745-18G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.3745-37G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.3852+47A>T Multiple submitters
• c.3852+62C>G Multiple submitters
• c.3907-258A>G Multiple submitters
• c.4122+108T>C Multiple submitters
• c.4123-69A>G Multiple submitters
• c.4176+35A>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4176+48A>G Multiple submitters fibromuscular dysplasia, multifocal
• c.4176+50A>C Multiple submitters
• c.4176+9T>G Multiple submitters fibromuscular dysplasia, multifocal
• c.4177-107T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4230+103T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4230+118C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4231-183G>A Multiple submitters
• c.4231-228G>A Multiple submitters
• c.4231-240G>A Multiple submitters
• c.4446+134A>C Multiple submitters
• c.4446+62G>A Multiple submitters
• c.4447-45G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.4608+195G>A Multiple submitters
• c.4608+31T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.4609-107G>A Multiple submitters
• c.4609-134A>G Multiple submitters
• c.4609-77G>C Multiple submitters
• c.4644+129C>G Multiple submitters
• c.4644+176G>A Multiple submitters
• c.4644+99C>G Multiple submitters
• c.4645-111T>G Multiple submitters
• c.4645-112A>T Multiple submitters
• c.4699-140C>T Multiple submitters
• c.4699-24C>T Multiple submitters
• c.492-56T>C Multiple submitters
• c.4955-119C>T Multiple submitters
• c.4955-139C>G Multiple submitters
• c.4955-16C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.4955-28T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.5067+20C>G Multiple submitters fibromuscular dysplasia, multifocal
• c.5068-7T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.5136+280G>A Multiple submitters
• c.5136+373G>A Multiple submitters
• c.5137-104C>T Multiple submitters
• c.5137-142C>T Multiple submitters
• c.5371-42A>C Multiple submitters
• c.5371-66T>G Multiple submitters
• c.654+73G>A Multiple submitters
• c.655-142G>A Multiple submitters
• c.655-320G>A Multiple submitters
• c.786+182T>G Multiple submitters
• c.787-42C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.924+35C>A Multiple submitters
• c.925-43G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.925-44C>T Multiple submitters Ehlers-Danlos syndrome, classic type
• c.925-49A>G Multiple submitters fibromuscular dysplasia, multifocal
• c.-247T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.-400C>G Multiple submitters
• c.*1125A>T Multiple submitters Ehlers-Danlos syndrome
• c.*267C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.*58C>T Multiple submitters Ehlers-Danlos syndrome, classic type
• c.*733C>A Multiple submitters fibromuscular dysplasia, multifocal
• c.*83C>T Multiple submitters fibromuscular dysplasia, multifocal
• p.Ala477= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Leu466= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1494= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro364= Multiple submitters fibromuscular dysplasia, multifocal
• p.Thr246= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr383= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.109+17del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.110-178G>A Single submitter
• c.110-271C>T Single submitter
• c.1165-149C>T Single submitter
• c.1390-259G>A Single submitter
• c.1390-305C>T Single submitter
• c.1390-3dup Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1432-32T>C Single submitter
• c.1494+129del Single submitter
• c.1662+134T>C Single submitter
• c.1662+252G>A Single submitter
• c.1663-158del Single submitter
• c.1663-159_1663-158del Single submitter
• c.1663-160_1663-158del Single submitter
• c.1663-160G>T Single submitter
• c.1663-166G>T Single submitter
• c.1663-170_1663-169insA Single submitter
• c.1663-237G>A Single submitter
• c.1827+295A>G Single submitter
• c.1828-297T>C Single submitter
• c.1882-133A>G Single submitter
• c.1882-256C>T Single submitter
• c.1936-299C>T Single submitter
• c.1989+279T>C Single submitter
• c.1990-12del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.1990-12dup Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2034+154G>A Single submitter
• c.2034+256C>T Single submitter
• c.2088+227G>A Single submitter
• c.2088+231C>G Single submitter
• c.2088+8C>G Single submitter
• c.2089-288C>T Single submitter
• c.2133+14del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2133+236G>A Single submitter
• c.2134-225C>T Single submitter
• c.2134-238A>G Single submitter
• c.2286+146T>C Single submitter
• c.2287-260T>G Single submitter
• c.2331+140G>A Single submitter
• c.2331+191G>C Single submitter
• c.2331+247_2331+265dup Single submitter
• c.2332-291G>A Single submitter
• c.2332-3del Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2385+250G>T Single submitter
• c.2386-210_2386-209del Single submitter
• c.2430+196C>T Single submitter
• c.2430+290A>G Single submitter
• c.2484+196T>C Single submitter
• c.2485-34_2485-33insGGCA Single submitter
• c.2485-34_2485-33insGGGGCA Single submitter
• c.2485-39_2485-38insT Single submitter
• c.2485-39_2485-38insTGT Single submitter
• c.2592+148T>G Single submitter
• c.2592+209T>C Single submitter
• c.2592+288C>T Single submitter
• c.2592+293A>G Single submitter
• c.2592+298G>A Single submitter
• c.2593-253A>C Single submitter
• c.2646+144T>C Single submitter
• c.2646+287G>A Single submitter
• c.2700+19dup Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2700+38G>A Single submitter
• c.2701-15dup Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2701-186T>C Single submitter
• c.2701-301G>A Single submitter
• c.2746-11C>G Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.278-224T>C Single submitter
• c.2799+112dup Single submitter
• c.2799+153C>T Single submitter
• c.2844+163T>G Single submitter
• c.2898+287TC[3] Single submitter
• c.2898+53_2898+72del Single submitter
• c.2899-261G>A Single submitter
• c.2899-273C>T Single submitter
• c.2899-318A>G Single submitter
• c.2899-7dup Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.2952+109_2952+192del Single submitter
• c.2953-153del Single submitter
• c.2953-153dup Single submitter
• c.2953-235AG[3] Single submitter
• c.3007-216G>A Single submitter
• c.3474+255G>A Single submitter
• c.3474+48G>A Single submitter
• c.3528+295T>C Single submitter
• c.3852+181A>G Single submitter
• c.3852+205del Single submitter
• c.3852+224G>A Single submitter
• c.3852+47_3852+48del Single submitter
• c.3852+48GT[8] Single submitter
• c.3852+62_3852+65del Single submitter
• c.3852+62_3852+69del Single submitter
• c.4122+287G>A Single submitter
• c.4176+162C>A Single submitter
• c.4176+163T>A Single submitter
• c.4176+257C>G Single submitter
• c.4230+212C>T Single submitter
• c.4393-13C>A Single submitter Ehlers-Danlos syndrome, classic type, 1
• c.4554+258C>G Single submitter
• c.4554+263G>A Single submitter
• c.4554+321T>C Single submitter
• c.4555-294G>A Single submitter
• c.4609-269dup Single submitter
• c.4609-278del Single submitter
• c.4609-278G>C Single submitter
• c.4609-279_4609-278insCC Single submitter
• c.4609-279dup Single submitter
• c.4698+135C>T Single submitter
• c.4698+146G>A Single submitter
• c.4699-219A>G Single submitter
• c.491+208T>A Single submitter
• c.491+271C>T Single submitter
• c.492-280C>T Single submitter
• c.4955-258C>T Single submitter
• c.4955-259C>A Single submitter
• c.4955-297G>T Single submitter
• c.4955-311C>T Single submitter
• c.5067+119C>T Single submitter
• c.5068-177C>A Single submitter
• c.5068-279C>A Single submitter

Benign/Likely benign 241

• c.110-19T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.1332+16C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1333-3dup Multiple submitters fibromuscular dysplasia, multifocal
• c.1333-8A>G Multiple submitters fibromuscular dysplasia, multifocal
• c.1389+8C>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1390-18CT[3] Multiple submitters fibromuscular dysplasia, multifocal
• c.1495-11C>A Multiple submitters fibromuscular dysplasia, multifocal
• c.1569+15C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.1569+19C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1662+15_1662+22dup Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.1774-7C>A Multiple submitters fibromuscular dysplasia, multifocal
• c.1935+12C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.1935+8T>G Multiple submitters fibromuscular dysplasia, multifocal
• c.2034+24C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2089-9C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2134-11G>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2287-16T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2331+15C>T Multiple submitters Ehlers-Danlos syndrome, classic type
• c.2386-6G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2430+16C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2484+14G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2485-11C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2592+16C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.2593-15T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.2646+14G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2700+16C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2745+15A>T Multiple submitters fibromuscular dysplasia, multifocal
• c.277+6T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.277+9C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2799+11G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.2799+4T>C Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2800-18C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2844+19C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.2844+20G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.2845-8G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3006+17C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.3114+12G>C Multiple submitters fibromuscular dysplasia, multifocal
• c.3115-14G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3259-8C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.3366+11C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3367-14_3367-12del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3474+7C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3528+14C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.3528+19G>T Multiple submitters fibromuscular dysplasia, multifocal
• c.3690+6T>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3691-9T>C Multiple submitters connective tissue disorder
• c.3744+12T>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3744+19C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3906+14C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.3906+15G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.3906+15G>C Multiple submitters Ehlers-Danlos syndrome, classic type
• c.3906+19C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3906+20G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.3906+7G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4015-19C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.4230+5C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4230+6G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4231-12G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.4231-9G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.4339-15G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4393-17C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.4393-19C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.4393-9C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4699-3del Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4699-6C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.4954+17dup Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.4955-48G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.5136+152C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.5136+40A>G Multiple submitters fibromuscular dysplasia, multifocal
• c.5137-11T>C Multiple submitters fibromuscular dysplasia, multifocal
• c.5137-12C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.5370+11C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.5370+13C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.5370+14G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.5371-15C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.5371-17G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.655-16G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.787-16C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.787-9C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.924+13C>T Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.924+14G>A Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.-110A>G Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• c.-15C>A Multiple submitters
• c.-37G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.-382C>G Multiple submitters fibromuscular dysplasia, multifocal
• c.-4C>G Multiple submitters fibromuscular dysplasia, multifocal
• c.*14C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.*1642G>A Multiple submitters Ehlers-Danlos syndrome, classic type
• c.*1922G>A Multiple submitters Ehlers-Danlos syndrome, classic type
• c.*283G>A Multiple submitters fibromuscular dysplasia, multifocal
• c.*311C>T Multiple submitters fibromuscular dysplasia, multifocal
• c.*5C>T Multiple submitters
• p.Ala1032= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ala1097= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ala1413= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Ala1605= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ala1718= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ala1823= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ala381= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ala436= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Ala603= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Ala728= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ala81= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ala93= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ala93Val Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg156Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg1637= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Arg1783= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg410Trp Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg449Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg558= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Arg65Gln Multiple submitters fibromuscular dysplasia, multifocal
• p.Arg65Trp Multiple submitters fibromuscular dysplasia, multifocal
• p.Asn1076= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asn50= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asn50Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Asn951Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp1134= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp1197= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp1458= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp1717= Multiple submitters fibromuscular dysplasia, multifocal
• p.Asp1787= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Asp1803Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp192Asn Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp332= Multiple submitters fibromuscular dysplasia, multifocal
• p.Asp339= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Asp354= Multiple submitters fibromuscular dysplasia, multifocal
• p.Asp659= Multiple submitters fibromuscular dysplasia, multifocal
• p.Asp659Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Asp666= Multiple submitters fibromuscular dysplasia, multifocal
• p.Asp72= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Asp759= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Asp80= Multiple submitters fibromuscular dysplasia, multifocal
• p.Asp813= Multiple submitters fibromuscular dysplasia, multifocal
• p.Asp939= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Cys1680= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Gln126His Multiple submitters fibromuscular dysplasia, multifocal
• p.Glu1163Ala Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Glu1599Gln Multiple submitters Ehlers-Danlos syndrome, classic type
• p.Glu284Lys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Glu359= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Glu584Lys Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Glu677= Multiple submitters fibromuscular dysplasia, multifocal
• p.Gly1285= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly1299= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly1561= Multiple submitters fibromuscular dysplasia, multifocal
• p.Gly1564= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly1596= Multiple submitters fibromuscular dysplasia, multifocal
• p.Gly1758= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Gly431= Multiple submitters fibromuscular dysplasia, multifocal
• p.Gly530= Multiple submitters fibromuscular dysplasia, multifocal
• p.Gly530Ser Multiple submitters fibromuscular dysplasia, multifocal
• p.Gly536= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly60= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly706= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Gly805= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly899Ser Multiple submitters fibromuscular dysplasia, multifocal
• p.Gly943= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Gly964= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Gly997= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.His4= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ile1101= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ile1491= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ile1520= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ile831= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Leu191= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Leu225= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Leu42= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Leu522= Multiple submitters fibromuscular dysplasia, multifocal
• p.Leu674= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Lys1119= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Lys174Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Phe1730= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro1029= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1112Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Pro1115= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1191= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1200= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1200Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1233= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Pro1251= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1296= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro1322Thr Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1355= Multiple submitters Ehlers-Danlos syndrome
• p.Pro136= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Pro1379Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Pro1436= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro1461= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro1470= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro1553= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro1647= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro1658= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Pro1700= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro21Ser Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro312= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Pro391= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro427= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro480= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro513= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro563= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Pro657= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Pro657Gln Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro686= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro756= Multiple submitters fibromuscular dysplasia, multifocal
• p.Pro770= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro834= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro908= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Pro917= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser1260= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Ser1512= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser1547= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser171= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser1749= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Ser1769= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser254Leu Multiple submitters fibromuscular dysplasia, multifocal
• p.Ser384= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Ser386= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser428Leu Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser651= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Ser84= Multiple submitters fibromuscular dysplasia, multifocal
• p.Ser936= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr1008= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr1374= Multiple submitters fibromuscular dysplasia, multifocal
• p.Thr144Met Multiple submitters Ehlers-Danlos syndrome, classic type, 1 ⚠
• p.Thr1757= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr1757Met Multiple submitters fibromuscular dysplasia, multifocal ⚠
• p.Thr1798= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr315= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr408= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr485= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr567= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Thr990= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Tyr1601= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Tyr1604= Multiple submitters fibromuscular dysplasia, multifocal
• p.Tyr1760= Multiple submitters fibromuscular dysplasia, multifocal
• p.Tyr280= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Tyr417= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
• p.Val1750= Multiple submitters fibromuscular dysplasia, multifocal
• p.Val297Met Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Val492= Multiple submitters Ehlers-Danlos syndrome, classic type, 1
• p.Val999= Multiple submitters fibromuscular dysplasia, multifocal