ADAMTS20 — 280 ClinVar variants

All ClinVar germline ADAMTS20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

2 Benign · 36 Likely benign · 242 Uncertain significance

Full ADAMTS20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ADAMTS20 variants

Benign 2

p.Glu915Asp Multiple submitters
p.Gly985= Multiple submitters

Likely benign 36

p.Ala1143Thr Single submitter
p.Ala1266Thr Single submitter
p.Ala433Thr Single submitter
p.Ala742Thr Single submitter
p.Arg1014Thr Single submitter
p.Arg1555Gln Single submitter
p.Arg1628Gln Single submitter
p.Arg315His Single submitter
p.Arg482Gln Single submitter
p.Arg582Leu Single submitter
p.Asn1828Lys Single submitter
p.Asp1745Gly Single submitter
p.Glu118= Single submitter
p.Glu1424Gly Single submitter
p.Gly950Ser Single submitter
p.His304Asn Single submitter
p.His962Arg Single submitter
p.Ile1408Val Single submitter
p.Ile261Val Single submitter
p.Ile263Val Single submitter
p.Leu434= Single submitter
p.Met438Thr Single submitter
p.Ser1031= Single submitter
p.Ser219Arg Single submitter
p.Ser442Thr Single submitter
p.Thr1142= Single submitter
p.Thr152Met Single submitter
p.Thr1616= Single submitter
p.Thr550Met Single submitter
p.Thr724Ala Single submitter
p.Tyr1571Cys Single submitter
p.Val1570Phe Single submitter
p.Val451Ile Single submitter
p.Ala1829= No assertion criteria ADAMTS20-related condition
p.Asn1852Ser No assertion criteria ADAMTS20-related condition
p.Tyr1364Asn No assertion criteria ADAMTS20-related condition

Uncertain significance 242

p.Ala102Thr Single submitter
p.Ala1479Thr Single submitter
p.Ala1700Ser Single submitter
p.Ala1797Ser Single submitter
p.Ala431Thr Single submitter
p.Ala70Val Single submitter
p.Ala804Val Single submitter
p.Ala95Val Single submitter
p.Arg1000Cys Single submitter
p.Arg1044Gln Single submitter
p.Arg1175Cys Single submitter
p.Arg132Gly Single submitter
p.Arg132His Single submitter
p.Arg1440Cys Single submitter
p.Arg1518Gln Single submitter
p.Arg1677Thr Single submitter
p.Arg253Cys Single submitter
p.Arg253Leu Single submitter
p.Arg259Ile Single submitter
p.Arg29Lys Single submitter
p.Arg35Lys Single submitter
p.Arg448Trp Single submitter
p.Arg541Cys Single submitter
p.Arg553Cys Single submitter
p.Arg553Gly Single submitter
p.Arg585His Single submitter
p.Arg750Cys Single submitter
p.Arg750His Single submitter
p.Arg77Leu Single submitter
p.Arg869Lys Single submitter
p.Arg989Gln Single submitter
p.Asn1294His Single submitter
p.Asn1589His Single submitter
p.Asn1774Ser Single submitter
p.Asn1781Ile Single submitter
p.Asn226Thr Single submitter
p.Asn239Lys Single submitter
p.Asn341Ser Single submitter
p.Asn49Asp Single submitter
p.Asn556Ser Single submitter
p.Asn802His Single submitter
p.Asn92Lys Single submitter
p.Asn996Ser Single submitter
p.Asp1114Gly Single submitter
p.Asp1203Asn Single submitter
p.Asp1203Tyr Single submitter
p.Asp1242Glu Single submitter
p.Asp1242Val Single submitter
p.Asp1343Val Single submitter
p.Asp1454Tyr Single submitter
p.Asp1596Gly Single submitter
p.Asp224Glu Single submitter
p.Asp325Gly Single submitter
p.Asp342Gly Single submitter
p.Asp465Tyr Single submitter
p.Asp484Val Single submitter
p.Asp616Gly Single submitter
p.Asp748Asn Single submitter
p.Asp884Ala Single submitter
p.Asp884Glu Single submitter
p.Asp888Glu Single submitter
p.Cys1077Tyr Single submitter
p.Cys1246Arg Single submitter
p.Cys1342Tyr Single submitter
p.Cys1374Arg Single submitter
p.Cys1547Ser Single submitter
p.Cys1652Phe Single submitter
p.Cys1670Arg Single submitter
p.Cys1709Tyr Single submitter
p.Cys1743Trp Single submitter
p.Cys1844Tyr Single submitter
p.Cys545Arg Single submitter
p.Cys568Tyr Single submitter
p.Cys572Gly Single submitter
p.Gln1352His Single submitter
p.Gln1409Arg Single submitter
p.Gln188Arg Single submitter
p.Gln196Pro Single submitter
p.Gln919Arg Single submitter
p.Glu1255Lys Single submitter
p.Glu1548Asp Single submitter
p.Glu161Lys Single submitter
p.Glu1749Gln Single submitter
p.Glu1789Gln Single submitter
p.Glu470Gly Single submitter
p.Gly1038Ser Single submitter
p.Gly1159Cys Single submitter
p.Gly115Trp Single submitter
p.Gly1214Ala Single submitter
p.Gly1311Arg Single submitter
p.Gly1314Arg Single submitter
p.Gly133Ser Single submitter
p.Gly1357Glu Single submitter
p.Gly1375Glu Single submitter
p.Gly1490Val Single submitter
p.Gly150Val Single submitter
p.Gly1699Val Single submitter
p.Gly1769Asp Single submitter
p.Gly1793Arg Single submitter
p.Gly480Ala Single submitter
p.Gly535Asp Single submitter
p.Gly535Ser Single submitter
p.Gly627Asp Single submitter
p.Gly711Val Single submitter
p.Gly714Ala Single submitter
p.Gly725Cys Single submitter
p.Gly826Val Single submitter
p.Gly858Ser Single submitter
p.Gly921Ser Single submitter
p.Gly923Glu Single submitter
p.Gly950Arg Single submitter
p.Gly985Glu Single submitter
p.His1533Arg Single submitter
p.His1685Arg Single submitter
p.His183Leu Single submitter
p.His347Arg Single submitter
p.His437Leu Single submitter
p.His508Leu Single submitter
p.His508Tyr Single submitter
p.His60Arg Single submitter
p.His834Asn Single submitter
p.His875Asn Single submitter
p.His889Asn Single submitter
p.His909Arg Single submitter
p.His937Gln Single submitter
p.Ile1445Thr Single submitter
p.Ile1591Thr Single submitter
p.Ile1632Thr Single submitter
p.Ile1672Thr Single submitter
p.Ile167Lys Single submitter
p.Ile167Val Single submitter
p.Ile1825Met Single submitter
p.Ile1877Arg Single submitter
p.Ile289Val Single submitter
p.Ile305Thr Single submitter
p.Ile380Val Single submitter
p.Ile503Arg Single submitter
p.Ile503Val Single submitter
p.Ile796Val Single submitter
p.Leu1050Pro Single submitter
p.Leu1287Ser Single submitter
p.Leu1324Ile Single submitter
p.Leu1578Val Single submitter
p.Leu1626Arg Single submitter
p.Leu1629Phe Single submitter
p.Leu1691Phe Single submitter
p.Leu1795Ser Single submitter
p.Leu478Ile Single submitter
p.Leu668Val Single submitter
p.Leu71Met Single submitter
p.Lys1435Arg Single submitter
p.Lys1438Gln Single submitter
p.Lys1659Asn Single submitter
p.Lys1659Glu Single submitter
p.Lys1684Asn Single submitter
p.Lys1815Glu Single submitter
p.Lys420Glu Single submitter
p.Lys449Asn Single submitter
p.Lys487Arg Single submitter
p.Lys651Arg Single submitter
p.Lys954Asn Single submitter
p.Met1901Val Single submitter
p.Met287Thr Single submitter
p.Met672Val Single submitter
p.Met693Val Single submitter
p.Met74Leu Single submitter
p.Met847Ile Single submitter
p.Met862Ile Single submitter
p.Met994Lys Single submitter
p.Phe1270Ile Single submitter
p.Phe324Ser Single submitter
p.Phe617Leu Single submitter
p.Phe61Tyr Single submitter
p.Phe666Ile Single submitter
p.Phe666Leu Single submitter
p.Phe89Leu Single submitter
p.Pro1071Ala Single submitter
p.Pro112Arg Single submitter
p.Pro1196Leu Single submitter
p.Pro1265Ser Single submitter
p.Pro1405Ser Single submitter
p.Pro1425Ser Single submitter
p.Pro1751Ala Single submitter
p.Pro1751Thr Single submitter
p.Pro320Leu Single submitter
p.Pro467Thr Single submitter
p.Pro501Thr Single submitter
p.Pro564Ala Single submitter
p.Pro564Arg Single submitter
p.Pro611Ser Single submitter
p.Pro831Ala Single submitter
p.Pro852Arg Single submitter
p.Ser1024Thr Single submitter
p.Ser1124Arg Single submitter
p.Ser1319Arg Single submitter
p.Ser1428Leu Single submitter
p.Ser1458Ile Single submitter
p.Ser1476Pro Single submitter
p.Ser1491Pro Single submitter
p.Ser1642Tyr Single submitter
p.Ser1651Thr Single submitter
p.Ser1861Ala Single submitter
p.Ser755Phe Single submitter
p.Ser836Tyr Single submitter
p.Ser98Pro Single submitter
p.Thr1013Met Single submitter
p.Thr111Asn Single submitter
p.Thr1162Ile Single submitter
p.Thr1283Met Single submitter
p.Thr1613Ala Single submitter
p.Thr1621Ala Single submitter
p.Thr1683Asn Single submitter
p.Thr1868Ser Single submitter
p.Thr1902Ile Single submitter
p.Thr211Ile Single submitter
p.Thr745Ala Single submitter
p.Thr872Ile Single submitter
p.Thr897Ile Single submitter
p.Thr926Ile Single submitter
p.Thr941Asn Single submitter
p.Trp1025Gly Single submitter
p.Trp1313Arg Single submitter
p.Trp970Arg Single submitter
p.Tyr1176Cys Single submitter
p.Tyr1191His Single submitter
p.Tyr1237Cys Single submitter
p.Tyr1439Asn Single submitter
p.Tyr200His Single submitter
p.Tyr665Cys Single submitter
p.Tyr948Cys Single submitter
p.Val1330Ala Single submitter
p.Val1407Ile Single submitter
p.Val145Leu Single submitter
p.Val1531Met Single submitter
p.Val1566Ala Single submitter
p.Val1639Met Single submitter
p.Val240Glu Single submitter
p.Val290Leu Single submitter
p.Val306Leu Single submitter
p.Val42Ala Single submitter
p.Val639Glu Single submitter
p.Val944Ala Single submitter