ADAMTS16 — 199 ClinVar variants

All ClinVar germline ADAMTS16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →

1 Likely pathogenic · 1 Benign · 16 Likely benign · 181 Uncertain significance

Full ADAMTS16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 181

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 96

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

Predictors split 85

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

All ADAMTS16 variants

Likely pathogenic 1

p.Ser607_His608insTer No assertion criteria 46 XY differences of sex development

Benign 1

p.Val734Ile Multiple submitters

Likely benign 16

c.3559+8C>T Single submitter
c.964-8T>A Single submitter
p.Ala194Ser Single submitter
p.Ala27= Single submitter
p.Ala36Ser Single submitter
p.Arg239His Single submitter
p.Asn780= Single submitter
p.Cys1109= Single submitter
p.Gly192Ser Single submitter
p.His1203= Single submitter
p.His357= Single submitter
p.Met906Thr Single submitter
p.Pro971= Single submitter
p.Thr834= Single submitter
p.Val203Ile Single submitter
p.Val851Ile Single submitter

Uncertain significance 181

p.Ala1059Thr Single submitter ⚠
p.Ala1110Asp Single submitter ⚠
p.Ala1121Ser Single submitter ⚠
p.Ala1140Val Single submitter ⚠
p.Ala34Val Single submitter ⚠
p.Ala35Val Single submitter ⚠
p.Ala383Thr Single submitter ⚠
p.Ala514Val Single submitter ⚠
p.Ala5Val Single submitter ⚠
p.Ala653Val Single submitter ⚠
p.Ala926Ser Single submitter ⚠
p.Ala938Val Single submitter ⚠
p.Ala980Gly Single submitter ⚠
p.Arg1046Cys Single submitter ⚠
p.Arg1088Gln Single submitter ⚠
p.Arg1149Trp Single submitter ⚠
p.Arg1158Gln Single submitter ⚠
p.Arg1158Pro Single submitter ⚠
p.Arg181Gly Single submitter ⚠
p.Arg181Ser Single submitter ⚠
p.Arg239Cys Single submitter ⚠
p.Arg279Cys Single submitter ⚠
p.Arg279His Single submitter ⚠
p.Arg279Leu Single submitter ⚠
p.Arg465His Single submitter ⚠
p.Arg476Cys Single submitter ⚠
p.Arg51Pro Single submitter ⚠
p.Arg630His Single submitter ⚠
p.Arg642Gln Single submitter ⚠
p.Arg648His Single submitter ⚠
p.Arg709His Single submitter ⚠
p.Arg719Ser Single submitter ⚠
p.Arg794Thr Single submitter ⚠
p.Arg808Gln Single submitter ⚠
p.Arg859Cys Single submitter ⚠
p.Arg85Gln Single submitter ⚠
p.Arg878Gly Single submitter ⚠
p.Arg898Gly Single submitter ⚠
p.Arg941Gln Single submitter ⚠
p.Arg950His Single submitter ⚠
p.Arg957Trp Single submitter ⚠
p.Asn336His Single submitter ⚠
p.Asn724His Single submitter ⚠
p.Asn835Lys Single submitter ⚠
p.Asp1027Asn Single submitter ⚠
p.Asp111Tyr Single submitter ⚠
p.Asp237Asn Single submitter ⚠
p.Asp299Asn Single submitter ⚠
p.Asp729His Single submitter ⚠
p.Cys1067Tyr Single submitter ⚠
p.Cys598Ser Single submitter ⚠
p.Cys738Tyr Single submitter ⚠
p.Cys881Tyr Single submitter ⚠
p.Cys885Tyr Single submitter ⚠
p.Cys986Arg Single submitter ⚠
p.Gln1054Leu Single submitter ⚠
p.Gln196Arg Single submitter ⚠
p.Gln487Pro Single submitter ⚠
p.Glu1033Lys Single submitter ⚠
p.Glu1040Lys Single submitter ⚠
p.Glu1104Lys Single submitter ⚠
p.Glu174Lys Single submitter ⚠
p.Glu56Gln Single submitter ⚠
p.Glu580Gln Single submitter ⚠
p.Glu67Lys Single submitter ⚠
p.Glu778Lys Single submitter ⚠
p.Glu894Asp Single submitter ⚠
p.Glu95Gly Single submitter ⚠
p.Glu95Lys Single submitter ⚠
p.Gly1070Arg Single submitter ⚠
p.Gly1143Arg Single submitter ⚠
p.Gly1212Arg Single submitter ⚠
p.Gly1212Ser Single submitter ⚠
p.Gly329Ala Single submitter ⚠
p.Gly329Glu Single submitter ⚠
p.Gly332Glu Single submitter ⚠
p.Gly371Glu Single submitter ⚠
p.Gly374Glu Single submitter ⚠
p.Gly447Ala Single submitter ⚠
p.Gly523Arg Single submitter ⚠
p.Gly53Val Single submitter ⚠
p.Gly846Ala Single submitter ⚠
p.Gly886Arg Single submitter ⚠
p.Gly887Glu Single submitter ⚠
p.Gly993Arg Single submitter ⚠
p.His1039Asn Single submitter ⚠
p.His1117Asp Single submitter ⚠
p.His1208Tyr Single submitter ⚠
p.His154Tyr Single submitter ⚠
p.His308Arg Single submitter ⚠
p.His620Arg Single submitter ⚠
p.Ile331Thr Single submitter ⚠
p.Ile489Thr Single submitter ⚠
p.Ile489Val Single submitter ⚠
p.Ile716Met Single submitter ⚠
p.Ile876Thr Single submitter ⚠
p.Leu1044Val Single submitter ⚠
p.Leu1105Met Single submitter ⚠
p.Leu1173Arg Single submitter ⚠
p.Leu11Val Single submitter ⚠
p.Leu1224Trp Single submitter ⚠
p.Leu17Gln Single submitter ⚠
p.Leu281Pro Single submitter ⚠
p.Leu632Pro Single submitter ⚠
p.Leu860Val Single submitter ⚠
p.Lys1217Gln Single submitter ⚠
p.Lys2Thr Single submitter ⚠
p.Lys481Arg Single submitter ⚠
p.Lys810Thr Single submitter ⚠
p.Met256Ile Single submitter ⚠
p.Met256Val Single submitter ⚠
p.Met458Ile Single submitter ⚠
p.Met567Thr Single submitter ⚠
p.Met779Leu Single submitter ⚠
p.Met80Val Single submitter ⚠
p.Phe692Leu Single submitter ⚠
p.Phe902Leu Single submitter ⚠
p.Pro1026Thr Single submitter ⚠
p.Pro1099Gln Single submitter ⚠
p.Pro1099Leu Single submitter ⚠
p.Pro1169Thr Single submitter ⚠
p.Pro184Ser Single submitter ⚠
p.Pro211Leu Single submitter ⚠
p.Pro214Ala Single submitter ⚠
p.Pro406Ala Single submitter ⚠
p.Pro47Ser Single submitter ⚠
p.Pro48Leu Single submitter ⚠
p.Pro508Ser Single submitter ⚠
p.Pro52Arg Single submitter ⚠
p.Pro806Ser Single submitter ⚠
p.Pro849Leu Single submitter ⚠
p.Pro866His Single submitter ⚠
p.Pro867Ala Single submitter ⚠
p.Pro966Leu Single submitter ⚠
p.Pro988Leu Single submitter ⚠
p.Ser1019Ala Single submitter ⚠
p.Ser1019Leu Single submitter ⚠
p.Ser1061Tyr Single submitter ⚠
p.Ser1126Leu Single submitter ⚠
p.Ser1126Trp Single submitter ⚠
p.Ser1172Phe Single submitter ⚠
p.Ser153Thr Single submitter ⚠
p.Ser158Ala Single submitter ⚠
p.Ser198Ile Single submitter ⚠
p.Ser199Leu Single submitter ⚠
p.Ser235Arg Single submitter ⚠
p.Ser273Cys Single submitter ⚠
p.Ser363Arg Single submitter ⚠
p.Ser363Asn Single submitter ⚠
p.Ser459Thr Single submitter ⚠
p.Ser644Gly Single submitter ⚠
p.Ser784Ala Single submitter ⚠
p.Ser821Ala Single submitter ⚠
p.Ser940Asn Single submitter ⚠
p.Ser962Trp Single submitter ⚠
p.Ser983Ala Single submitter ⚠
p.Thr1031Ala Single submitter ⚠
p.Thr1139Met Single submitter ⚠
p.Thr1139Pro Single submitter ⚠
p.Thr1177Ile Single submitter ⚠
p.Thr127Met Single submitter ⚠
p.Thr585Ile Single submitter ⚠
p.Thr614Ser Single submitter ⚠
p.Thr631Asn Single submitter ⚠
p.Thr631Ile Single submitter ⚠
p.Thr834Asn Single submitter ⚠
p.Thr917Met Single submitter ⚠
p.Thr942Met Single submitter ⚠
p.Trp568Arg Single submitter ⚠
p.Tyr1087His Single submitter ⚠
p.Tyr1193Cys Single submitter ⚠
p.Tyr271Cys Single submitter ⚠
p.Tyr682His Single submitter ⚠
p.Tyr855Phe Single submitter ⚠
p.Val1057Ala Single submitter ⚠
p.Val125Met Single submitter ⚠
p.Val498Ala Single submitter ⚠
p.Val765Asp Single submitter ⚠
p.Val883Met Single submitter ⚠
p.Val920Met Single submitter ⚠
p.Val952Met Single submitter ⚠