ADAMTSL1 — 366 ClinVar variants
All ClinVar germline ADAMTSL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 328 flagged for review →
1 Conflicting · 7 Benign · 2 Benign/Likely benign · 30 Likely benign · 326 Uncertain significance
Full ADAMTSL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 328
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 199
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 199
- ADAMTSL1 p.Tyr55Cys Uncertain significance Multiple submitters
- ADAMTSL1 p.Ala1015Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala1215Ser Uncertain significance Single submitter
- ADAMTSL1 p.Ala1534Val Uncertain significance Single submitter
- ADAMTSL1 p.Ala1539Val Uncertain significance Single submitter
- ADAMTSL1 p.Ala1556Pro Uncertain significance Single submitter
- ADAMTSL1 p.Ala1593Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala1628Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala1651Asp Uncertain significance Single submitter
- ADAMTSL1 p.Ala1680Ser Uncertain significance Single submitter
- ADAMTSL1 p.Ala1702Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala1762Val Uncertain significance Single submitter
- ADAMTSL1 p.Ala442Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala530Asp Uncertain significance Single submitter
- ADAMTSL1 p.Ala580Gly Uncertain significance Single submitter
- ADAMTSL1 p.Ala7Gly Uncertain significance Single submitter
- ADAMTSL1 p.Ala847Gly Uncertain significance Single submitter
- ADAMTSL1 p.Ala850Pro Uncertain significance Single submitter
- ADAMTSL1 p.Ala866Ser Uncertain significance Single submitter
- ADAMTSL1 p.Ala866Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala969Val Uncertain significance Single submitter
- ADAMTSL1 p.Arg1050Ser Uncertain significance Single submitter
- ADAMTSL1 p.Arg1277Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg1354Lys Uncertain significance Single submitter
- ADAMTSL1 p.Arg1506Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg1568His Uncertain significance Single submitter
- ADAMTSL1 p.Arg1568Leu Uncertain significance Single submitter
- ADAMTSL1 p.Arg1639Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg1690Trp Uncertain significance Single submitter
- ADAMTSL1 p.Arg1698His Uncertain significance Single submitter
- ADAMTSL1 p.Arg189Gly Uncertain significance Single submitter
- ADAMTSL1 p.Arg27Cys Uncertain significance Single submitter
- ADAMTSL1 p.Arg459His Uncertain significance Single submitter
- ADAMTSL1 p.Arg59Gly Uncertain significance Single submitter
- ADAMTSL1 p.Arg6Pro Uncertain significance Single submitter
- ADAMTSL1 p.Arg725His Uncertain significance Single submitter
- ADAMTSL1 p.Arg725Ser Uncertain significance Single submitter
- ADAMTSL1 p.Arg72Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg751Cys Uncertain significance Single submitter
- ADAMTSL1 p.Arg816Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg970Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg975Lys Uncertain significance Single submitter
- ADAMTSL1 p.Arg984Thr Uncertain significance Single submitter
- ADAMTSL1 p.Asn1084Thr Uncertain significance Single submitter
- ADAMTSL1 p.Asn117Lys Uncertain significance Single submitter
- ADAMTSL1 p.Asn1217Asp Uncertain significance Single submitter
- ADAMTSL1 p.Asn1427Ser Uncertain significance Single submitter
- ADAMTSL1 p.Asn1427Thr Uncertain significance Single submitter
- ADAMTSL1 p.Asn1586Ser Uncertain significance Single submitter
- ADAMTSL1 p.Asn646Asp Uncertain significance Single submitter
- ADAMTSL1 p.Asp1023Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp1046Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp1080Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp1409Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp1494Gly Uncertain significance Single submitter
- ADAMTSL1 p.Asp31Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp596Glu Uncertain significance Single submitter
- ADAMTSL1 p.Asp604Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp796His Uncertain significance Single submitter
- ADAMTSL1 p.Cys1353Tyr Uncertain significance Single submitter
- ADAMTSL1 p.Cys1661Trp Uncertain significance Single submitter
- ADAMTSL1 p.Cys772Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gln1062Glu Uncertain significance Single submitter
- ADAMTSL1 p.Gln1106Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gln1300His Uncertain significance Single submitter
- ADAMTSL1 p.Gln1375Glu Uncertain significance Single submitter
- ADAMTSL1 p.Gln1536Glu Uncertain significance Single submitter
- ADAMTSL1 p.Gln1591His Uncertain significance Single submitter
- ADAMTSL1 p.Gln1750Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gln233Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gln512Glu Uncertain significance Single submitter
- ADAMTSL1 p.Gln872His Uncertain significance Single submitter
- ADAMTSL1 p.Glu1030Asp Uncertain significance Single submitter
- ADAMTSL1 p.Glu1030Gln Uncertain significance Single submitter
- ADAMTSL1 p.Glu1055Lys Uncertain significance Single submitter
- ADAMTSL1 p.Glu1061Lys Uncertain significance Single submitter
- ADAMTSL1 p.Glu1114Asp Uncertain significance Single submitter
- ADAMTSL1 p.Glu1361Ala Uncertain significance Single submitter
-
ADAMTSL1 p.Glu502Lys
Uncertain significance
Single submitter
ADAMTSL1-related disorder
- ADAMTSL1 p.Glu621Lys Uncertain significance Single submitter
- ADAMTSL1 p.Glu641Asp Uncertain significance Single submitter
- ADAMTSL1 p.Glu799Lys Uncertain significance Single submitter
- ADAMTSL1 p.Gly1005Val Uncertain significance Single submitter
- ADAMTSL1 p.Gly1012Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly1033Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly1151Ala Uncertain significance Single submitter
- ADAMTSL1 p.Gly1206Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly1246Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly1391Glu Uncertain significance Single submitter
- ADAMTSL1 p.Gly1461Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly1562Trp Uncertain significance Single submitter
- ADAMTSL1 p.Gly1564Asp Uncertain significance Single submitter
- ADAMTSL1 p.Gly1564Val Uncertain significance Single submitter
- ADAMTSL1 p.Gly1620Glu Uncertain significance Single submitter
- ADAMTSL1 p.Gly1686Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly182Trp Uncertain significance Single submitter
- ADAMTSL1 p.Gly517Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly597Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly601Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly615Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly673Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly685Ser Uncertain significance Single submitter
- ADAMTSL1 p.Gly747Asp Uncertain significance Single submitter
- ADAMTSL1 p.Gly962Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly963Ser Uncertain significance Single submitter
- ADAMTSL1 p.His1135Leu Uncertain significance Single submitter
- ADAMTSL1 p.His1184Asn Uncertain significance Single submitter
- ADAMTSL1 p.His1359Arg Uncertain significance Single submitter
- ADAMTSL1 p.His1631Arg Uncertain significance Single submitter
- ADAMTSL1 p.His214Arg Uncertain significance Single submitter
- ADAMTSL1 p.His695Gln Uncertain significance Single submitter
- ADAMTSL1 p.His935Tyr Uncertain significance Single submitter
- ADAMTSL1 p.Ile1205Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ile1486Met Uncertain significance Single submitter
- ADAMTSL1 p.Ile159Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ile1623Met Uncertain significance Single submitter
- ADAMTSL1 p.Ile434Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ile546Thr Uncertain significance Single submitter
- ADAMTSL1 p.Leu1067Val Uncertain significance Single submitter
- ADAMTSL1 p.Leu1092Val Uncertain significance Single submitter
- ADAMTSL1 p.Leu1113Gln Uncertain significance Single submitter
- ADAMTSL1 p.Leu1119Val Uncertain significance Single submitter
- ADAMTSL1 p.Leu1340Pro Uncertain significance Single submitter
- ADAMTSL1 p.Leu1380Ser Uncertain significance Single submitter
- ADAMTSL1 p.Leu1380Trp Uncertain significance Single submitter
- ADAMTSL1 p.Leu35Val Uncertain significance Single submitter
- ADAMTSL1 p.Leu657Pro Uncertain significance Single submitter
- ADAMTSL1 p.Leu960His Uncertain significance Single submitter
- ADAMTSL1 p.Lys348Gln Uncertain significance Single submitter
- ADAMTSL1 p.Lys509Arg Uncertain significance Single submitter
- ADAMTSL1 p.Lys637Arg Uncertain significance Single submitter
- ADAMTSL1 p.Lys858Glu Uncertain significance Single submitter
- ADAMTSL1 p.Met1479Ile Uncertain significance Single submitter
- ADAMTSL1 p.Met1588Ile Uncertain significance Single submitter
- ADAMTSL1 p.Met267Thr Uncertain significance Single submitter
- ADAMTSL1 p.Met701Leu Uncertain significance Single submitter
- ADAMTSL1 p.Phe1002Leu Uncertain significance Single submitter
- ADAMTSL1 p.Phe259Leu Uncertain significance Single submitter
- ADAMTSL1 p.Phe259Ser Uncertain significance Single submitter
- ADAMTSL1 p.Pro1035Ala Uncertain significance Single submitter
- ADAMTSL1 p.Pro1134Ser Uncertain significance Single submitter
- ADAMTSL1 p.Pro1160Gln Uncertain significance Single submitter
- ADAMTSL1 p.Pro1208Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro1210Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro1240Thr Uncertain significance Single submitter
- ADAMTSL1 p.Pro1330Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro1392Gln Uncertain significance Single submitter
- ADAMTSL1 p.Pro1401Ala Uncertain significance Single submitter
- ADAMTSL1 p.Pro1625Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro431Thr Uncertain significance Single submitter
Predictors split 129
The independent predictors disagree with each other — read with care.
- ADAMTSL1 p.Ala1173Asp Uncertain significance Single submitter
- ADAMTSL1 p.Ala1243Val Uncertain significance Single submitter
- ADAMTSL1 p.Ala1355Val Uncertain significance Single submitter
- ADAMTSL1 p.Ala1389Asp Uncertain significance Single submitter
- ADAMTSL1 p.Ala1577Ser Uncertain significance Single submitter
- ADAMTSL1 p.Ala53Ser Uncertain significance Single submitter
- ADAMTSL1 p.Ala760Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala813Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ala949Glu Uncertain significance Single submitter
- ADAMTSL1 p.Arg1277Gly Uncertain significance Single submitter
- ADAMTSL1 p.Arg1595Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg1639Trp Uncertain significance Single submitter
- ADAMTSL1 p.Arg1691His Uncertain significance Single submitter
- ADAMTSL1 p.Arg1713Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg186Trp Uncertain significance Single submitter
- ADAMTSL1 p.Arg331His Uncertain significance Single submitter
- ADAMTSL1 p.Arg399Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg576His Uncertain significance Single submitter
- ADAMTSL1 p.Arg652His Uncertain significance Single submitter
- ADAMTSL1 p.Arg653Gln Uncertain significance Single submitter
- ADAMTSL1 p.Arg725Cys Uncertain significance Single submitter
- ADAMTSL1 p.Arg751His Uncertain significance Single submitter
- ADAMTSL1 p.Arg758Cys Uncertain significance Single submitter
- ADAMTSL1 p.Arg902Leu Uncertain significance Single submitter
- ADAMTSL1 p.Arg903Ser Uncertain significance Single submitter
- ADAMTSL1 p.Arg970Trp Uncertain significance Single submitter
- ADAMTSL1 p.Arg984Trp Uncertain significance Single submitter
- ADAMTSL1 p.Asn1217Ser Uncertain significance Single submitter
- ADAMTSL1 p.Asn1251Ser Uncertain significance Single submitter
- ADAMTSL1 p.Asn1254Ser Uncertain significance Single submitter
- ADAMTSL1 p.Asn1323His Uncertain significance Single submitter
- ADAMTSL1 p.Asn344Lys Uncertain significance Single submitter
- ADAMTSL1 p.Asn828Ile Uncertain significance Single submitter
- ADAMTSL1 p.Asp1233Tyr Uncertain significance Single submitter
- ADAMTSL1 p.Asp1372Gly Uncertain significance Single submitter
- ADAMTSL1 p.Asp163Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp261Asn Uncertain significance Single submitter
- ADAMTSL1 p.Asp261Gly Uncertain significance Single submitter
- ADAMTSL1 p.Asp363Glu Uncertain significance Single submitter
- ADAMTSL1 p.Asp37Ala Uncertain significance Single submitter
- ADAMTSL1 p.Asp37Tyr Uncertain significance Single submitter
- ADAMTSL1 p.Asp593His Uncertain significance Single submitter
- ADAMTSL1 p.Gln1452His Uncertain significance Single submitter
- ADAMTSL1 p.Gln191Pro Uncertain significance Single submitter
- ADAMTSL1 p.Glu1381Lys Uncertain significance Single submitter
- ADAMTSL1 p.Glu303Asp Uncertain significance Single submitter
- ADAMTSL1 p.Gly103Asp Uncertain significance Single submitter
- ADAMTSL1 p.Gly1349Ala Uncertain significance Single submitter
- ADAMTSL1 p.Gly234Val Uncertain significance Single submitter
- ADAMTSL1 p.Gly468Glu Uncertain significance Single submitter
- ADAMTSL1 p.Gly50Ala Uncertain significance Single submitter
- ADAMTSL1 p.Gly569Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly746Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly805Arg Uncertain significance Single submitter
- ADAMTSL1 p.Gly86Asp Uncertain significance Single submitter
- ADAMTSL1 p.Gly915Cys Uncertain significance Single submitter
- ADAMTSL1 p.Gly915Ser Uncertain significance Single submitter
- ADAMTSL1 p.His101Gln Uncertain significance Single submitter
- ADAMTSL1 p.His102Pro Uncertain significance Single submitter
- ADAMTSL1 p.His1626Tyr Uncertain significance Single submitter
- ADAMTSL1 p.His1669Tyr Uncertain significance Single submitter
- ADAMTSL1 p.His997Tyr Uncertain significance Single submitter
- ADAMTSL1 p.Ile1263Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ile208Val Uncertain significance Single submitter
- ADAMTSL1 p.Ile276Met Uncertain significance Single submitter
- ADAMTSL1 p.Ile368Asn Uncertain significance Single submitter
- ADAMTSL1 p.Leu1229Pro Uncertain significance Single submitter
- ADAMTSL1 p.Leu1470His Uncertain significance Single submitter
- ADAMTSL1 p.Leu1513Trp Uncertain significance Single submitter
- ADAMTSL1 p.Leu1516Val Uncertain significance Single submitter
- ADAMTSL1 p.Leu16Val Uncertain significance Single submitter
- ADAMTSL1 p.Leu225Phe Uncertain significance Single submitter
- ADAMTSL1 p.Leu232His Uncertain significance Single submitter
- ADAMTSL1 p.Leu248Pro Uncertain significance Single submitter
- ADAMTSL1 p.Met151Leu Uncertain significance Single submitter
- ADAMTSL1 p.Phe555Leu Uncertain significance Single submitter
- ADAMTSL1 p.Phe886Leu Uncertain significance Single submitter
- ADAMTSL1 p.Phe929Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro115Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro1373Thr Uncertain significance Single submitter
- ADAMTSL1 p.Pro1374Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro1653Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro384Arg Uncertain significance Single submitter
- ADAMTSL1 p.Pro447Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro667Ser Uncertain significance Single submitter
- ADAMTSL1 p.Pro789Ala Uncertain significance Single submitter
- ADAMTSL1 p.Pro83Leu Uncertain significance Single submitter
- ADAMTSL1 p.Pro861Arg Uncertain significance Single submitter
- ADAMTSL1 p.Ser1003Phe Uncertain significance Single submitter
- ADAMTSL1 p.Ser1019Asn Uncertain significance Single submitter
- ADAMTSL1 p.Ser1177Leu Uncertain significance Single submitter
- ADAMTSL1 p.Ser1325Cys Uncertain significance Single submitter
- ADAMTSL1 p.Ser1483Cys Uncertain significance Single submitter
- ADAMTSL1 p.Ser1663Pro Uncertain significance Single submitter
- ADAMTSL1 p.Ser1749Asn Uncertain significance Single submitter
- ADAMTSL1 p.Ser1749Gly Uncertain significance Single submitter
- ADAMTSL1 p.Ser282Trp Uncertain significance Single submitter
- ADAMTSL1 p.Ser718Thr Uncertain significance Single submitter
- ADAMTSL1 p.Ser763Arg Uncertain significance Single submitter
- ADAMTSL1 p.Ser77Asn Uncertain significance Single submitter
- ADAMTSL1 p.Ser920Gly Uncertain significance Single submitter
-
ADAMTSL1 p.Ser94Leu
Uncertain significance
Single submitter
orofacial cleft 1
- ADAMTSL1 p.Thr1275Met Uncertain significance Single submitter
- ADAMTSL1 p.Thr128Lys Likely benign Single submitter
- ADAMTSL1 p.Thr1319Ile Uncertain significance Single submitter
- ADAMTSL1 p.Thr1444Met Uncertain significance Single submitter
- ADAMTSL1 p.Thr1638Ile Uncertain significance Single submitter
- ADAMTSL1 p.Thr478Ile Uncertain significance Single submitter
- ADAMTSL1 p.Thr802Pro Uncertain significance Single submitter
- ADAMTSL1 p.Tyr337Asp Uncertain significance Single submitter
- ADAMTSL1 p.Tyr458His Uncertain significance Single submitter
- ADAMTSL1 p.Tyr73His Uncertain significance Single submitter
- ADAMTSL1 p.Tyr931Cys Uncertain significance Single submitter
- ADAMTSL1 p.Val1304Met Likely benign Single submitter
- ADAMTSL1 p.Val131Phe Conflicting Single submitter
- ADAMTSL1 p.Val132Phe Uncertain significance Single submitter
- ADAMTSL1 p.Val1397Leu Uncertain significance Single submitter
- ADAMTSL1 p.Val1456Ala Uncertain significance Single submitter
- ADAMTSL1 p.Val1477Met Likely benign Single submitter
- ADAMTSL1 p.Val1508Phe Uncertain significance Single submitter
- ADAMTSL1 p.Val1703Met Uncertain significance Single submitter
- ADAMTSL1 p.Val332Leu Uncertain significance Single submitter
- ADAMTSL1 p.Val415Leu Uncertain significance Single submitter
- ADAMTSL1 p.Val461Ile Uncertain significance Single submitter
- ADAMTSL1 p.Val559Met Uncertain significance Single submitter
- ADAMTSL1 p.Val691Ile Uncertain significance Single submitter
- ADAMTSL1 p.Val924Phe Uncertain significance Single submitter
- ADAMTSL1 p.Val968Met Uncertain significance Single submitter
-
ADAMTSL1 p.Arg713Cys
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All ADAMTSL1 variants
Conflicting classifications of pathogenicity 1
- p.Val131Phe Single submitter ⚠
Benign 7
- p.Asn1004= Multiple submitters
- p.Asp1079= Multiple submitters
- p.Gln721= Multiple submitters
- p.Gly68= Multiple submitters
- p.Leu35= Multiple submitters
- p.Pro1058= Multiple submitters
- p.Cys1666= Single submitter
Benign/Likely benign 2
- c.3678-8C>T Multiple submitters
- p.Ser1673= Multiple submitters
Likely benign 30
- p.Arg1125His Multiple submitters
- c.1342-8C>G Single submitter
- c.1575-8G>A Single submitter
- c.2007-4_2007-3del Single submitter
- c.3806-7T>C Single submitter
- c.3935-10_3935-9del Single submitter
- p.Ala1525Thr Single submitter
- p.Arg640Gln Single submitter
- p.Asn1523Ser Single submitter
- p.Asn179= Single submitter
- p.Asp565= Single submitter
- p.Asp786Glu Single submitter
- p.Gly393= Single submitter
- p.Gly943= Single submitter
- p.His955Gln Single submitter
- p.Ile1292Val Single submitter
- p.Ile1642= Single submitter
- p.Leu1132Val Single submitter
- p.Leu598= Single submitter
- p.Phe1431= Single submitter
- p.Phe508Tyr Single submitter
- p.Ser1365Asn Single submitter
- p.Ser940= Single submitter
- p.Thr128Lys Single submitter ⚠
- p.Val1304Met Single submitter ⚠
- p.Val1477Met Single submitter ⚠
- p.Arg32Gln No assertion criteria ADAMTSL1-related disorder
- p.Arg713Cys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
- p.Gln1472Arg No assertion criteria ADAMTSL1-related disorder
- p.Val170Ile No assertion criteria ADAMTSL1-related disorder
Uncertain significance 326
Showing the top 300 by review status; the full set is in the sitemap.
- p.Tyr55Cys Multiple submitters ⚠
- c.1137-4G>A Single submitter
- p.Ala1015Thr Single submitter ⚠
- p.Ala1173Asp Single submitter ⚠
- p.Ala1215Ser Single submitter ⚠
- p.Ala1243Val Single submitter ⚠
- p.Ala1355Val Single submitter ⚠
- p.Ala1389Asp Single submitter ⚠
- p.Ala1534Val Single submitter ⚠
- p.Ala1539Val Single submitter ⚠
- p.Ala1556Pro Single submitter ⚠
- p.Ala1577Ser Single submitter ⚠
- p.Ala1593Thr Single submitter ⚠
- p.Ala1628Thr Single submitter ⚠
- p.Ala1651Asp Single submitter ⚠
- p.Ala1680Ser Single submitter ⚠
- p.Ala1702Thr Single submitter ⚠
- p.Ala1762Val Single submitter ⚠
- p.Ala442Thr Single submitter ⚠
- p.Ala530Asp Single submitter ⚠
- p.Ala53Ser Single submitter ⚠
- p.Ala580Gly Single submitter ⚠
- p.Ala760Thr Single submitter ⚠
- p.Ala7Gly Single submitter ⚠
- p.Ala813Thr Single submitter ⚠
- p.Ala847Gly Single submitter ⚠
- p.Ala850Pro Single submitter ⚠
- p.Ala866Ser Single submitter ⚠
- p.Ala866Thr Single submitter ⚠
- p.Ala949Glu Single submitter ⚠
- p.Ala969Val Single submitter ⚠
- p.Arg1050Ser Single submitter ⚠
- p.Arg1277Gln Single submitter ⚠
- p.Arg1277Gly Single submitter ⚠
- p.Arg1354Lys Single submitter ⚠
- p.Arg1506Gln Single submitter ⚠
- p.Arg1568His Single submitter ⚠
- p.Arg1568Leu Single submitter ⚠
- p.Arg1595Gln Single submitter ⚠
- p.Arg1639Gln Single submitter ⚠
- p.Arg1639Trp Single submitter ⚠
- p.Arg1690Trp Single submitter ⚠
- p.Arg1691His Single submitter ⚠
- p.Arg1698His Single submitter ⚠
- p.Arg1713Gln Single submitter ⚠
- p.Arg186Trp Single submitter ⚠
- p.Arg189Gly Single submitter ⚠
- p.Arg27Cys Single submitter ⚠
- p.Arg331His Single submitter ⚠
- p.Arg399Gln Single submitter ⚠
- p.Arg459His Single submitter ⚠
- p.Arg576His Single submitter ⚠
- p.Arg59Gly Single submitter ⚠
- p.Arg652His Single submitter ⚠
- p.Arg653Gln Single submitter ⚠
- p.Arg6Pro Single submitter ⚠
- p.Arg725Cys Single submitter ⚠
- p.Arg725His Single submitter ⚠
- p.Arg725Ser Single submitter ⚠
- p.Arg72Gln Single submitter ⚠
- p.Arg751Cys Single submitter ⚠
- p.Arg751His Single submitter ⚠
- p.Arg758Cys Single submitter ⚠
- p.Arg816Gln Single submitter ⚠
- p.Arg902Leu Single submitter ⚠
- p.Arg903Ser Single submitter ⚠
- p.Arg970Gln Single submitter ⚠
- p.Arg970Trp Single submitter ⚠
- p.Arg975Lys Single submitter ⚠
- p.Arg984Thr Single submitter ⚠
- p.Arg984Trp Single submitter ⚠
- p.Asn1084Thr Single submitter ⚠
- p.Asn117Lys Single submitter ⚠
- p.Asn1217Asp Single submitter ⚠
- p.Asn1217Ser Single submitter ⚠
- p.Asn1251Ser Single submitter ⚠
- p.Asn1254Ser Single submitter ⚠
- p.Asn1323His Single submitter ⚠
- p.Asn1427Ser Single submitter ⚠
- p.Asn1427Thr Single submitter ⚠
- p.Asn1586Ser Single submitter ⚠
- p.Asn344Lys Single submitter ⚠
- p.Asn646Asp Single submitter ⚠
- p.Asn828Ile Single submitter ⚠
- p.Asp1023Asn Single submitter ⚠
- p.Asp1046Asn Single submitter ⚠
- p.Asp1080Asn Single submitter ⚠
- p.Asp1233Tyr Single submitter ⚠
- p.Asp1372Gly Single submitter ⚠
- p.Asp1409Asn Single submitter ⚠
- p.Asp1494Gly Single submitter ⚠
- p.Asp163Asn Single submitter ⚠
- p.Asp261Asn Single submitter ⚠
- p.Asp261Gly Single submitter ⚠
- p.Asp31Asn Single submitter ⚠
- p.Asp363Glu Single submitter ⚠
- p.Asp37Ala Single submitter ⚠
- p.Asp37Tyr Single submitter ⚠
- p.Asp593His Single submitter ⚠
- p.Asp596Glu Single submitter ⚠
- p.Asp604Asn Single submitter ⚠
- p.Asp796His Single submitter ⚠
- p.Cys1353Tyr Single submitter ⚠
- p.Cys1661Trp Single submitter ⚠
- p.Cys772Arg Single submitter ⚠
- p.Gln1062Glu Single submitter ⚠
- p.Gln1106Arg Single submitter ⚠
- p.Gln1300His Single submitter ⚠
- p.Gln1375Glu Single submitter ⚠
- p.Gln1452His Single submitter ⚠
- p.Gln1536Glu Single submitter ⚠
- p.Gln1591His Single submitter ⚠
- p.Gln1750Arg Single submitter ⚠
- p.Gln191Pro Single submitter ⚠
- p.Gln233Arg Single submitter ⚠
- p.Gln512Glu Single submitter ⚠
- p.Gln872His Single submitter ⚠
- p.Glu1030Asp Single submitter ⚠
- p.Glu1030Gln Single submitter ⚠
- p.Glu1055Lys Single submitter ⚠
- p.Glu1061Lys Single submitter ⚠
- p.Glu1114Asp Single submitter ⚠
- p.Glu1361Ala Single submitter ⚠
- p.Glu1381Lys Single submitter ⚠
- p.Glu303Asp Single submitter ⚠
- p.Glu502Lys Single submitter ADAMTSL1-related disorder ⚠
- p.Glu621Lys Single submitter ⚠
- p.Glu641Asp Single submitter ⚠
- p.Glu799Lys Single submitter ⚠
- p.Gly1005Val Single submitter ⚠
- p.Gly1012Ser Single submitter ⚠
- p.Gly1033Ser Single submitter ⚠
- p.Gly103Asp Single submitter ⚠
- p.Gly1151Ala Single submitter ⚠
- p.Gly1206Ser Single submitter ⚠
- p.Gly1246Ser Single submitter ⚠
- p.Gly1349Ala Single submitter ⚠
- p.Gly1391Glu Single submitter ⚠
- p.Gly1461Ser Single submitter ⚠
- p.Gly1562Trp Single submitter ⚠
- p.Gly1564Asp Single submitter ⚠
- p.Gly1564Val Single submitter ⚠
- p.Gly1620Glu Single submitter ⚠
- p.Gly1686Ser Single submitter ⚠
- p.Gly182Trp Single submitter ⚠
- p.Gly234Val Single submitter ⚠
- p.Gly468Glu Single submitter ⚠
- p.Gly50Ala Single submitter ⚠
- p.Gly517Arg Single submitter ⚠
- p.Gly569Arg Single submitter ⚠
- p.Gly597Arg Single submitter ⚠
- p.Gly601Arg Single submitter ⚠
- p.Gly615Arg Single submitter ⚠
- p.Gly673Ser Single submitter ⚠
- p.Gly685Ser Single submitter ⚠
- p.Gly746Arg Single submitter ⚠
- p.Gly747Asp Single submitter ⚠
- p.Gly805Arg Single submitter ⚠
- p.Gly86Asp Single submitter ⚠
- p.Gly915Cys Single submitter ⚠
- p.Gly915Ser Single submitter ⚠
- p.Gly962Arg Single submitter ⚠
- p.Gly963Ser Single submitter ⚠
- p.His101Gln Single submitter ⚠
- p.His102Pro Single submitter ⚠
- p.His1135Leu Single submitter ⚠
- p.His1184Asn Single submitter ⚠
- p.His1359Arg Single submitter ⚠
- p.His1626Tyr Single submitter ⚠
- p.His1631Arg Single submitter ⚠
- p.His1669Tyr Single submitter ⚠
- p.His214Arg Single submitter ⚠
- p.His695Gln Single submitter ⚠
- p.His935Tyr Single submitter ⚠
- p.His997Tyr Single submitter ⚠
- p.Ile1205Thr Single submitter ⚠
- p.Ile1263Thr Single submitter ⚠
- p.Ile1486Met Single submitter ⚠
- p.Ile159Thr Single submitter ⚠
- p.Ile1623Met Single submitter ⚠
- p.Ile208Val Single submitter ⚠
- p.Ile276Met Single submitter ⚠
- p.Ile368Asn Single submitter ⚠
- p.Ile396fs Single submitter
- p.Ile434Thr Single submitter ⚠
- p.Ile464fs Single submitter
- p.Ile546Thr Single submitter ⚠
- p.Leu1067Val Single submitter ⚠
- p.Leu1092Val Single submitter ⚠
- p.Leu1113Gln Single submitter ⚠
- p.Leu1119Val Single submitter ⚠
- p.Leu1229Pro Single submitter ⚠
- p.Leu1340Pro Single submitter ⚠
- p.Leu1380Ser Single submitter ⚠
- p.Leu1380Trp Single submitter ⚠
- p.Leu1470His Single submitter ⚠
- p.Leu1513Trp Single submitter ⚠
- p.Leu1516Val Single submitter ⚠
- p.Leu16Val Single submitter ⚠
- p.Leu225Phe Single submitter ⚠
- p.Leu232His Single submitter ⚠
- p.Leu248Pro Single submitter ⚠
- p.Leu35Val Single submitter ⚠
- p.Leu657Pro Single submitter ⚠
- p.Leu960His Single submitter ⚠
- p.Lys348Gln Single submitter ⚠
- p.Lys509Arg Single submitter ⚠
- p.Lys637Arg Single submitter ⚠
- p.Lys858Glu Single submitter ⚠
- p.Met1479Ile Single submitter ⚠
- p.Met151Leu Single submitter ⚠
- p.Met1588Ile Single submitter ⚠
- p.Met267Thr Single submitter ⚠
- p.Met701Leu Single submitter ⚠
- p.Phe1002Leu Single submitter ⚠
- p.Phe259Leu Single submitter ⚠
- p.Phe259Ser Single submitter ⚠
- p.Phe555Leu Single submitter ⚠
- p.Phe886Leu Single submitter ⚠
- p.Phe929Leu Single submitter ⚠
- p.Pro1035Ala Single submitter ⚠
- p.Pro1134Ser Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Pro1160Gln Single submitter ⚠
- p.Pro1208Leu Single submitter ⚠
- p.Pro1210Leu Single submitter ⚠
- p.Pro1240Thr Single submitter ⚠
- p.Pro1330Leu Single submitter ⚠
- p.Pro1373Thr Single submitter ⚠
- p.Pro1374Leu Single submitter ⚠
- p.Pro1392Gln Single submitter ⚠
- p.Pro1401Ala Single submitter ⚠
- p.Pro1625Leu Single submitter ⚠
- p.Pro1653Leu Single submitter ⚠
- p.Pro384Arg Single submitter ⚠
- p.Pro431Thr Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro447Ser Single submitter ⚠
- p.Pro489His Single submitter ⚠
- p.Pro563Leu Single submitter ⚠
- p.Pro667Ser Single submitter ⚠
- p.Pro730Ala Single submitter ⚠
- p.Pro789Ala Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Pro861Arg Single submitter ⚠
- p.Pro971Leu Single submitter ⚠
- p.Pro971Ser Single submitter ⚠
- p.Pro988Arg Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser1003Phe Single submitter ⚠
- p.Ser1019Asn Single submitter ⚠
- p.Ser1086Ala Single submitter ⚠
- p.Ser1143Thr Single submitter ⚠
- p.Ser1177Leu Single submitter ⚠
- p.Ser1179Trp Single submitter ⚠
- p.Ser1325Cys Single submitter ⚠
- p.Ser1346Leu Single submitter ⚠
- p.Ser1460Thr Single submitter ⚠
- p.Ser1483Cys Single submitter ⚠
- p.Ser1519Arg Single submitter ⚠
- p.Ser1555Phe Single submitter ⚠
- p.Ser1663Pro Single submitter ⚠
- p.Ser1689Cys Single submitter ⚠
- p.Ser1749Asn Single submitter ⚠
- p.Ser1749Gly Single submitter ⚠
- p.Ser282Trp Single submitter ⚠
- p.Ser660Phe Single submitter ⚠
- p.Ser718Thr Single submitter ⚠
- p.Ser763Arg Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Ser840Phe Single submitter ⚠
- p.Ser860Arg Single submitter ⚠
- p.Ser920Gly Single submitter ⚠
- p.Ser921Thr Single submitter ⚠
- p.Ser94Leu Single submitter orofacial cleft 1 ⚠
- p.Thr1275Met Single submitter ⚠
- p.Thr1283Met Single submitter ⚠
- p.Thr1319Ile Single submitter ⚠
- p.Thr1341Ile Single submitter ⚠
- p.Thr1399Met Single submitter ⚠
- p.Thr1444Met Single submitter ⚠
- p.Thr1638Ile Single submitter ⚠
- p.Thr1643Ser Single submitter ⚠
- p.Thr1733Ile Single submitter ⚠
- p.Thr246Ser Single submitter ⚠
- p.Thr423Ile Single submitter ⚠
- p.Thr471Lys Single submitter ⚠
- p.Thr478Ile Single submitter ⚠
- p.Thr48Ile Single submitter ⚠
- p.Thr802Ala Single submitter ⚠
- p.Thr802Pro Single submitter ⚠
- p.Thr808Ile Single submitter ⚠
- p.Thr857Ala Single submitter ⚠
- p.Thr893Pro Single submitter ⚠
- p.Thr925Ala Single submitter ⚠
- p.Trp1610Cys Single submitter ⚠
- p.Trp792Arg Single submitter ⚠
- p.Trp792Leu Single submitter ⚠
- p.Tyr145Ser Single submitter ⚠
- p.Tyr337Asp Single submitter ⚠