ADAMTS12 — 246 ClinVar variants

All ClinVar germline ADAMTS12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →

7 Benign · 1 Benign/Likely benign · 15 Likely benign · 223 Uncertain significance

Full ADAMTS12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 224

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

Predictors lean, ClinVar uncertain 150

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 74

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

All ADAMTS12 variants

Benign 7

p.Arg856His Multiple submitters
p.Gln110Glu Multiple submitters
p.Gly263= Multiple submitters
p.Lys1517Arg Multiple submitters
p.Ser382= Multiple submitters
p.Thr1201Ile Multiple submitters
p.Thr76= Multiple submitters

Benign/Likely benign 1

p.Asp1393Glu Multiple submitters

Likely benign 15

p.Ala136Gly Single submitter
p.Arg1079His Single submitter
p.Arg1586Gln Single submitter
p.Glu437Lys Single submitter
p.His338= Single submitter
p.His339= Single submitter
p.Ile1136Val Single submitter
p.Ile75Val Single submitter
p.Lys81Arg Single submitter
p.Met825Val Single submitter
p.Ser1107= Single submitter
p.Thr1036Ile Single submitter ⚠
p.Val1022Ile Single submitter
p.Val1319Ile Single submitter
p.Val152Ile Single submitter

Uncertain significance 223

p.Ala1245Thr Single submitter ⚠
p.Ala1333Gly Single submitter ⚠
p.Ala1333Thr Single submitter ⚠
p.Ala1349Val Single submitter ⚠
p.Ala1409Asp Single submitter ⚠
p.Ala1426Gly Single submitter ⚠
p.Ala156Val Single submitter ⚠
p.Ala514Gly Single submitter ⚠
p.Ala565Thr Single submitter ⚠
p.Ala62Gly Single submitter ⚠
p.Ala737Val Single submitter ⚠
p.Arg1133His Single submitter ⚠
p.Arg1336Lys Single submitter ⚠
p.Arg1363Cys Single submitter ⚠
p.Arg1363His Single submitter ⚠
p.Arg1395Trp Single submitter ⚠
p.Arg1398Trp Single submitter ⚠
p.Arg1460Lys Single submitter ⚠
p.Arg1583Gly Single submitter ⚠
p.Arg196Met Single submitter ⚠
p.Arg239Trp Single submitter ⚠
p.Arg246Thr Single submitter ⚠
p.Arg297Gln Single submitter ⚠
p.Arg356Ser Single submitter ⚠
p.Arg36Pro Single submitter ⚠
p.Arg374Cys Single submitter ⚠
p.Arg421His Single submitter ⚠
p.Arg446Gln Single submitter ⚠
p.Arg508Cys Single submitter ⚠
p.Arg508His Single submitter ⚠
p.Arg547Cys Single submitter ⚠
p.Arg585Gly Single submitter ⚠
p.Arg587His Single submitter ⚠
p.Arg597Cys Single submitter ⚠
p.Arg638Gln Single submitter ⚠
p.Arg690Cys Single submitter ⚠
p.Arg727Lys Single submitter ⚠
p.Arg744Ser Single submitter ⚠
p.Arg846His Single submitter ⚠
p.Arg856Cys Single submitter ⚠
p.Arg906Gln Single submitter ⚠
p.Arg988Gln Single submitter ⚠
p.Asn1006Asp Single submitter ⚠
p.Asn1015Ile Single submitter ⚠
p.Asn115Asp Single submitter ⚠
p.Asn11Asp Single submitter ⚠
p.Asn335Ile Single submitter ⚠
p.Asn355Ser Single submitter ⚠
p.Asn485Lys Single submitter ⚠
p.Asn618Lys Single submitter ⚠
p.Asn685Ser Single submitter ⚠
p.Asn871Lys Single submitter ⚠
p.Asn871Ser Single submitter ⚠
p.Asp1110Asn Single submitter ⚠
p.Asp1510Asn Single submitter ⚠
p.Asp683Asn Single submitter ⚠
p.Asp865Gly Single submitter ⚠
p.Asp980Asn Single submitter ⚠
p.Asp980Tyr Single submitter ⚠
p.Cys1329Gly Single submitter ⚠
p.Cys1380Gly Single submitter ⚠
p.Cys1391Tyr Single submitter ⚠
p.Cys160Tyr Single submitter ⚠
p.Cys322Tyr Single submitter ⚠
p.Cys489Phe Single submitter ⚠
p.Cys520Tyr Single submitter ⚠
p.Gln1509Glu Single submitter ⚠
p.Gln1573His Single submitter ⚠
p.Gln218Arg Single submitter ⚠
p.Gln477His Single submitter ⚠
p.Gln824His Single submitter ⚠
p.Gln824Pro Single submitter ⚠
p.Glu1104Lys Single submitter ⚠
p.Glu1116Lys Single submitter ⚠
p.Glu1161Lys Single submitter ⚠
p.Glu1237Lys Single submitter ⚠
p.Glu1287Ala Single submitter ⚠
p.Glu1288Ala Single submitter ⚠
p.Glu1296Gly Single submitter ⚠
p.Glu1339Gln Single submitter ⚠
p.Glu245Asp Single submitter ⚠
p.Glu302Lys Single submitter ⚠
p.Glu304Gly Single submitter ⚠
p.Glu733Asp Single submitter ⚠
p.Glu835Gly Single submitter ⚠
p.Glu918Lys Single submitter ⚠
p.Gly1008Asp Single submitter ⚠
p.Gly1008Ser Single submitter ⚠
p.Gly1060Arg Single submitter ⚠
p.Gly1085Glu Single submitter ⚠
p.Gly1150Arg Single submitter ⚠
p.Gly1184Val Single submitter ⚠
p.Gly1219Arg Single submitter ⚠
p.Gly1441Ser Single submitter ⚠
p.Gly399Ala Single submitter ⚠
p.Gly399Ser Single submitter ⚠
p.Gly469Arg Single submitter ⚠
p.Gly56Ser Single submitter ⚠
p.Gly578Arg Single submitter ⚠
p.Gly677Ser Single submitter ⚠
p.Gly720Ala Single submitter ⚠
p.Gly787Ala Single submitter ⚠
p.Gly831Ser Single submitter ⚠
p.Gly899Val Single submitter ⚠
p.Gly962Cys Single submitter ⚠
p.His1312Asn Single submitter ⚠
p.His1397Asn Single submitter ⚠
p.His1470Pro Single submitter ⚠
p.His161Arg Single submitter ⚠
p.His171Gln Single submitter ⚠
p.His283Arg Single submitter ⚠
p.His338Asn Single submitter ⚠
p.His365Asn Single submitter ⚠
p.His396Tyr Single submitter ⚠
p.His631Leu Single submitter ⚠
p.His72Gln Single submitter ⚠
p.His878Arg Single submitter ⚠
p.Ile1294Met Single submitter ⚠
p.Ile1411Val Single submitter ⚠
p.Ile293Val Single submitter ⚠
p.Ile378Val Single submitter ⚠
p.Ile46Ser Single submitter ⚠
p.Ile734Thr Single submitter ⚠
p.Ile743Val Single submitter ⚠
p.Ile758Val Single submitter ⚠
p.Ile942Met Single submitter ⚠
p.Leu1092Pro Single submitter ⚠
p.Leu1269Gln Single submitter ⚠
p.Leu1299Phe Single submitter ⚠
p.Leu1454Phe Single submitter ⚠
p.Leu1482Gln Single submitter ⚠
p.Leu1587Val Single submitter ⚠
p.Leu19Phe Single submitter ⚠
p.Leu251Val Single submitter ⚠
p.Leu384Pro Single submitter ⚠
p.Leu929Met Single submitter ⚠
p.Lys1065Gln Single submitter ⚠
p.Lys1369Glu Single submitter ⚠
p.Lys1459Glu Single submitter ⚠
p.Lys523Asn Single submitter ⚠
p.Lys750Thr Single submitter ⚠
p.Lys933Gln Single submitter ⚠
p.Met1217Val Single submitter ⚠
p.Met1275Thr Single submitter ⚠
p.Met1275Val Single submitter ⚠
p.Met1465Lys Single submitter ⚠
p.Met1465Thr Single submitter ⚠
p.Met275Thr Single submitter ⚠
p.Met527Val Single submitter ⚠
p.Met606Ile Single submitter ⚠
p.Met648Ile Single submitter ⚠
p.Met914Thr Single submitter ⚠
p.Phe1407Ser Single submitter ⚠
p.Pro1024Ser Single submitter ⚠
p.Pro1038Leu Single submitter ⚠
p.Pro1135Ser Single submitter ⚠
p.Pro1139His Single submitter ⚠
p.Pro1166His Single submitter ⚠
p.Pro1195Leu Single submitter ⚠
p.Pro1244Ala Single submitter ⚠
p.Pro1356Ala Single submitter ⚠
p.Pro137Leu Single submitter ⚠
p.Pro1413Ser Single submitter ⚠
p.Pro1421Leu Single submitter ⚠
p.Pro1518Arg Single submitter ⚠
p.Pro1518Thr Single submitter ⚠
p.Pro191Leu Single submitter ⚠
p.Pro30His Single submitter ⚠
p.Pro34Leu Single submitter ⚠
p.Pro38Leu Single submitter ⚠
p.Pro50Ser Single submitter ⚠
p.Pro595Ser Single submitter ⚠
p.Pro629Thr Single submitter ⚠
p.Pro723Leu Single submitter ⚠
p.Pro788Leu Single submitter ⚠
p.Pro922Leu Single submitter ⚠
p.Pro978Thr Single submitter ⚠
p.Ser1044Gly Single submitter ⚠
p.Ser1052Asn Single submitter ⚠
p.Ser1088Pro Single submitter ⚠
p.Ser1115Leu Single submitter ⚠
p.Ser1127Cys Single submitter ⚠
p.Ser1132Pro Single submitter ⚠
p.Ser1191Gly Single submitter ⚠
p.Ser1229Tyr Single submitter ⚠
p.Ser127Pro Single submitter ⚠
p.Ser142Asn Single submitter ⚠
p.Ser1547Thr Single submitter ⚠
p.Ser1570Leu Single submitter ⚠
p.Ser420Phe Single submitter ⚠
p.Ser78Cys Single submitter ⚠
p.Thr1033Ile Single submitter ⚠
p.Thr1045Ala Single submitter ⚠
p.Thr1084Ile Single submitter ⚠
p.Thr144Met Single submitter ⚠
p.Thr144Ser Single submitter ⚠
p.Thr1458Arg Single submitter ⚠
p.Thr1551Ile Single submitter ⚠
p.Thr273Ala Single submitter ⚠
p.Thr273Ile Single submitter ⚠
p.Thr602Arg Single submitter ⚠
p.Thr602Lys Single submitter ⚠
p.Thr656Asn Single submitter ⚠
p.Thr76Met Single submitter ⚠
p.Thr786Pro Single submitter ⚠
p.Trp1317Cys Single submitter ⚠
p.Trp1480Arg Single submitter ⚠
p.Trp247Arg Single submitter ⚠
p.Tyr1080Cys Single submitter ⚠
p.Tyr117Asn Single submitter ⚠
p.Tyr439Asp Single submitter ⚠
p.Tyr472Cys Single submitter ⚠
p.Tyr751Cys Single submitter ⚠
p.Tyr765Cys Single submitter ⚠
p.Tyr93His Single submitter ⚠
p.Val14Met Single submitter ⚠
p.Val248Met Single submitter ⚠
p.Val253Leu Single submitter ⚠
p.Val503Met Single submitter ⚠
p.Val593Ile Single submitter ⚠
p.Val667Ala Single submitter ⚠
p.Val91Ala Single submitter ⚠
p.Val964Leu Single submitter ⚠