ADAMTS19 — 204 ClinVar variants
All ClinVar germline ADAMTS19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
7 Pathogenic · 4 Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 15 Likely benign · 174 Uncertain significance
Full ADAMTS19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ADAMTS19 variants
Pathogenic 7
- c.2425+1G>A Single submitter cardiac valvular dysplasia 2
- p.Gln81fs Single submitter
- p.Glu644Ter Single submitter
- p.Ser91fs Single submitter
- c.2003+1G>T No assertion criteria cardiac valvular dysplasia 2
- p.Arg653Ter No assertion criteria cardiac valvular dysplasia 2
- p.Arg662Ter No assertion criteria cardiac valvular dysplasia 2
Likely pathogenic 4
- c.1478+1G>A Single submitter cardiac valvular dysplasia 2
- p.Arg975fs Single submitter cardiac valvular dysplasia 2
- p.Arg975Ter No assertion criteria ADAMTS19-related disorder
- p.Lys1030fs No assertion criteria ADAMTS19-related disorder
Benign 3
- p.206GP[3] Single submitter
- p.Gly208Ser Single submitter
- p.Leu185= Single submitter
Benign/Likely benign 1
- p.Pro552Leu Multiple submitters
Likely benign 15
- c.1372+9G>A Single submitter
- c.747+7G>A Single submitter
- p.Arg1073= Single submitter
- p.Glu1023= Single submitter
- p.Glu99Asp Single submitter Inborn genetic diseases
- p.Gly1028= Single submitter
- p.Leu255= Single submitter
- p.Met269Val Single submitter Inborn genetic diseases
- p.Pro56Thr Single submitter Inborn genetic diseases
- p.Ser60Arg Single submitter
- p.Ser929Gly Single submitter Inborn genetic diseases
- p.Thr882= Single submitter
- p.Tyr299= Single submitter
- p.Val95Ala Single submitter Inborn genetic diseases
- p.Ser633Arg No assertion criteria ADAMTS19-related disorder
Uncertain significance 174
- p.Phe414Leu Multiple submitters Inborn genetic diseases
- c.1620-2A>C Single submitter ADAMTS19-related disorder
- c.3313-12986del Single submitter ADAMTS19-associated congenital heartdefect
- p.Ala1008Ser Single submitter Inborn genetic diseases
- p.Ala1032Thr Single submitter Inborn genetic diseases
- p.Ala136Asp Single submitter
- p.Ala164Val Single submitter Inborn genetic diseases
- p.Ala213Ser Single submitter Inborn genetic diseases
- p.Ala215Thr Single submitter Inborn genetic diseases
- p.Ala215Val Single submitter Inborn genetic diseases
- p.Ala220Glu Single submitter Inborn genetic diseases
- p.Ala224Ser Single submitter Inborn genetic diseases
- p.Ala231Gly Single submitter Inborn genetic diseases
- p.Ala47Gly Single submitter Inborn genetic diseases
- p.Ala47Val Single submitter Inborn genetic diseases
- p.Ala506Val Single submitter Inborn genetic diseases
- p.Ala543Val Single submitter Inborn genetic diseases
- p.Ala808Val Single submitter cardiac valvular dysplasia 2
- p.Ala856Asp Single submitter Inborn genetic diseases
- p.Arg1022Gln Single submitter Inborn genetic diseases
- p.Arg1024Lys Single submitter Inborn genetic diseases
- p.Arg1036His Single submitter cardiac valvular dysplasia 2
- p.Arg104Pro Single submitter Inborn genetic diseases
- p.Arg1065Trp Single submitter Inborn genetic diseases
- p.Arg1081Lys Single submitter Inborn genetic diseases
- p.Arg1083Met Single submitter Inborn genetic diseases
- p.Arg1098Gln Single submitter Inborn genetic diseases
- p.Arg1180Ter Single submitter cardiac valvular dysplasia 2
- p.Arg1183Cys Single submitter Inborn genetic diseases
- p.Arg1183Ser Single submitter Inborn genetic diseases
- p.Arg379Cys Single submitter Inborn genetic diseases
- p.Arg38Gly Single submitter Inborn genetic diseases
- p.Arg38Leu Single submitter Inborn genetic diseases
- p.Arg529Leu Single submitter Inborn genetic diseases
- p.Arg664Cys Single submitter Inborn genetic diseases
- p.Arg664His Single submitter Inborn genetic diseases
- p.Arg70Ser Single submitter Inborn genetic diseases
- p.Arg79Gly Single submitter Inborn genetic diseases
- p.Arg838Gln Single submitter Inborn genetic diseases
- p.Arg869Gln Single submitter Inborn genetic diseases
- p.Arg996Gln Single submitter Inborn genetic diseases
- p.Arg996Leu Single submitter Inborn genetic diseases
- p.Asn256Ser Single submitter Inborn genetic diseases
- p.Asn497Lys Single submitter Inborn genetic diseases
- p.Asn978His Single submitter Inborn genetic diseases
- p.Asp1087Asn Single submitter Inborn genetic diseases
- p.Asp1087Tyr Single submitter Inborn genetic diseases
- p.Asp1090Glu Single submitter Inborn genetic diseases
- p.Asp167Gly Single submitter Inborn genetic diseases
- p.Asp189Glu Single submitter Inborn genetic diseases
- p.Asp507Gly Single submitter Inborn genetic diseases
- p.Asp670Asn Single submitter Inborn genetic diseases
- p.Asp760Gly Single submitter Inborn genetic diseases
- p.Asp960Asn Single submitter Inborn genetic diseases
- p.Cys1149Tyr Single submitter Inborn genetic diseases
- p.Cys1170Arg Single submitter Inborn genetic diseases
- p.Cys676Tyr Single submitter Inborn genetic diseases
- p.Cys733Phe Single submitter Inborn genetic diseases
- p.Gln126Pro Single submitter Inborn genetic diseases
- p.Gln147Lys Single submitter Inborn genetic diseases
- p.Gln33Leu Single submitter Inborn genetic diseases
- p.Gln768Arg Single submitter Inborn genetic diseases
- p.Gln81His Single submitter Inborn genetic diseases
- p.Glu1047Gln Single submitter Inborn genetic diseases
- p.Glu263Asp Single submitter Inborn genetic diseases
- p.Glu388Val Single submitter Inborn genetic diseases
- p.Gly1049Glu Single submitter Inborn genetic diseases
- p.Gly190Cys Single submitter Inborn genetic diseases
- p.Gly190Ser Single submitter Inborn genetic diseases
- p.Gly508Ala Single submitter Inborn genetic diseases
- p.Gly61Ala Single submitter Inborn genetic diseases
- p.Gly61Val Single submitter Inborn genetic diseases
- p.Gly62Asp Single submitter Inborn genetic diseases
- p.Gly643Arg Single submitter Inborn genetic diseases
- p.Gly694Ser Single submitter Inborn genetic diseases
- p.Gly73Arg Single submitter Inborn genetic diseases
- p.Gly755Asp Single submitter Inborn genetic diseases
- p.Gly84Arg Single submitter Inborn genetic diseases
- p.Gly84Asp Single submitter Inborn genetic diseases
- p.His1145Gln Single submitter Inborn genetic diseases
- p.His298Tyr Single submitter Inborn genetic diseases
- p.His784Asn Single submitter Inborn genetic diseases
- p.His832Arg Single submitter Inborn genetic diseases
- p.His853Arg Single submitter Inborn genetic diseases
- p.His853Pro Single submitter Inborn genetic diseases
- p.Ile271Val Single submitter Inborn genetic diseases
- p.Ile28Met Single submitter Inborn genetic diseases
- p.Ile333Thr Single submitter Inborn genetic diseases
- p.Ile359Asn Single submitter Inborn genetic diseases
- p.Ile359Thr Single submitter Inborn genetic diseases
- p.Ile420Thr Single submitter Inborn genetic diseases
- p.Ile496Val Single submitter Inborn genetic diseases
- p.Ile761Thr Single submitter Inborn genetic diseases
- p.Leu1163Arg Single submitter Inborn genetic diseases
- p.Leu1209Pro Single submitter Inborn genetic diseases
- p.Leu128Val Single submitter Inborn genetic diseases
- p.Leu482Phe Single submitter Inborn genetic diseases
- p.Leu482Val Single submitter Inborn genetic diseases
- p.Leu578Phe Single submitter Inborn genetic diseases
- p.Leu779Phe Single submitter Inborn genetic diseases
- p.Leu779Pro Single submitter Inborn genetic diseases
- p.Leu871Phe Single submitter Inborn genetic diseases
- p.Leu899Ile Single submitter Inborn genetic diseases
- p.Lys1000Thr Single submitter Inborn genetic diseases
- p.Lys1169Asn Single submitter Inborn genetic diseases
- p.Lys288Glu Single submitter Inborn genetic diseases
- p.Lys313Arg Single submitter Inborn genetic diseases
- p.Lys417Arg Single submitter Inborn genetic diseases
- p.Lys532Asn Single submitter cardiac valvular dysplasia 2
- p.Lys681Arg Single submitter Inborn genetic diseases
- p.Lys969Glu Single submitter Inborn genetic diseases
- p.Met1099Ile Single submitter Inborn genetic diseases
- p.Met432Thr Single submitter Inborn genetic diseases
- p.Met432Val Single submitter Inborn genetic diseases
- p.Met512Leu Single submitter Inborn genetic diseases
- p.Met924Leu Single submitter Inborn genetic diseases
- p.Phe1168Val Single submitter Inborn genetic diseases
- p.Phe579Ile Single submitter Inborn genetic diseases
- p.Phe579Leu Single submitter Inborn genetic diseases
- p.Pro112Leu Single submitter Inborn genetic diseases
- p.Pro112Ser Single submitter Inborn genetic diseases
- p.Pro143Leu Single submitter Inborn genetic diseases
- p.Pro149Leu Single submitter Inborn genetic diseases
- p.Pro151Leu Single submitter Inborn genetic diseases
- p.Pro151Thr Single submitter Inborn genetic diseases
- p.Pro152Gln Single submitter Inborn genetic diseases
- p.Pro152Leu Single submitter Inborn genetic diseases
- p.Pro154Gln Single submitter Inborn genetic diseases
- p.Pro159Ser Single submitter Inborn genetic diseases
- p.Pro166Leu Single submitter Inborn genetic diseases
- p.Pro176Arg Single submitter Inborn genetic diseases
- p.Pro195Ala Single submitter Inborn genetic diseases
- p.Pro222Leu Single submitter Inborn genetic diseases
- p.Pro53Thr Single submitter Inborn genetic diseases
- p.Pro638Arg Single submitter Inborn genetic diseases
- p.Pro911Thr Single submitter Inborn genetic diseases
- p.Pro919Ser Single submitter Inborn genetic diseases
- p.Pro96Ser Single submitter Inborn genetic diseases
- p.Pro981Thr Single submitter Inborn genetic diseases
- p.Ser1055Leu Single submitter Inborn genetic diseases
- p.Ser1079Thr Single submitter Inborn genetic diseases
- p.Ser1134Pro Single submitter Inborn genetic diseases
- p.Ser1213Ile Single submitter Inborn genetic diseases
- p.Ser139Cys Single submitter Inborn genetic diseases
- p.Ser297Ile Single submitter Inborn genetic diseases
- p.Ser541Pro Single submitter Inborn genetic diseases
- p.Ser916Cys Single submitter Inborn genetic diseases
- p.Thr1080Ala Single submitter Inborn genetic diseases
- p.Thr1167Ser Single submitter Inborn genetic diseases
- p.Thr1200Ile Single submitter Inborn genetic diseases
- p.Thr426Ala Single submitter Inborn genetic diseases
- p.Thr568Ile Single submitter Inborn genetic diseases
- p.Thr570Asn Single submitter Inborn genetic diseases
- p.Thr805Ser Single submitter Inborn genetic diseases
- p.Thr862Pro Single submitter Inborn genetic diseases
- p.Thr949Lys Single submitter Inborn genetic diseases
- p.Thr968Ala Single submitter Inborn genetic diseases
- p.Trp146Cys Single submitter Inborn genetic diseases
- p.Trp428Arg Single submitter Inborn genetic diseases
- p.Tyr461Phe Single submitter Inborn genetic diseases
- p.Val101Met Single submitter Inborn genetic diseases
- p.Val1045Met Single submitter Inborn genetic diseases
- p.Val1067Ile Single submitter Inborn genetic diseases
- p.Val171Leu Single submitter Inborn genetic diseases
- p.Val199Glu Single submitter Inborn genetic diseases
- p.Val336Leu Single submitter Inborn genetic diseases
- p.Val363Ala Single submitter Inborn genetic diseases
- p.Val374Met Single submitter Inborn genetic diseases
- p.Val43Ile Single submitter Inborn genetic diseases
- p.Val601Ile Single submitter Inborn genetic diseases
- p.Val736Ile Single submitter Inborn genetic diseases
- p.Val736Phe Single submitter Inborn genetic diseases
- p.Val864Ile Single submitter Inborn genetic diseases
- p.Phe732Ile No assertion criteria ADAMTS19-related disorder