ADAMTS6 — 111 ClinVar variants

All ClinVar germline ADAMTS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

1 Likely pathogenic · 1 Benign · 6 Likely benign · 103 Uncertain significance

Full ADAMTS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 105

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ADAMTS6 p.Arg947Gln Likely pathogenic Single submitter
primary ovarian failure

Predictors lean, ClinVar uncertain 53

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

Predictors split 51

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

All ADAMTS6 variants

Likely pathogenic 1

p.Arg947Gln Single submitter primary ovarian failure ⚠

Benign 1

p.Met752Val Multiple submitters

Likely benign 6

p.Ile248Thr Single submitter
p.Val811Ile Single submitter
p.His155Arg No assertion criteria ADAMTS6-related disorder
p.Pro218Leu No assertion criteria ADAMTS6-related disorder
p.Ser90Leu No assertion criteria ADAMTS6-related disorder ⚠
p.Thr1024Ile No assertion criteria ADAMTS6-related disorder ⚠

Uncertain significance 103

c.844-4T>G Single submitter
p.Ala437Thr Single submitter ⚠
p.Ala496Val Single submitter ⚠
p.Ala668Val Single submitter ⚠
p.Ala998Val Single submitter ⚠
p.Arg1009Gly Single submitter ⚠
p.Arg1009His Single submitter ⚠
p.Arg1011Cys Single submitter ⚠
p.Arg1011His Single submitter ⚠
p.Arg1061Gln Single submitter ⚠
p.Arg199Gln Single submitter ⚠
p.Arg244Lys Single submitter ⚠
p.Arg26Ser Single submitter ⚠
p.Arg287Cys Single submitter ⚠
p.Arg449Gln Single submitter ⚠
p.Arg471His Single submitter ⚠
p.Arg617Gln Single submitter ⚠
p.Arg633Gln Single submitter ⚠
p.Arg665His Single submitter ⚠
p.Arg702Lys Single submitter ⚠
p.Arg869Ser Single submitter ⚠
p.Arg920Leu Single submitter ⚠
p.Arg982Gln Single submitter ⚠
p.Asn150Asp Single submitter ⚠
p.Asn234Asp Single submitter ⚠
p.Asn440Ser Single submitter ⚠
p.Asn466Asp Single submitter ⚠
p.Asp1085Glu Single submitter ⚠
p.Asp203Val Single submitter ⚠
p.Asp223Gly Single submitter ⚠
p.Asp450Gly Single submitter ⚠
p.Asp450Tyr Single submitter ⚠
p.Asp465Gly Single submitter ⚠
p.Asp678Asn Single submitter ⚠
p.Asp678His Single submitter ⚠
p.Gln1044His Single submitter ⚠
p.Gln242Glu Single submitter ⚠
p.Gln544Glu Single submitter ⚠
p.Glu621Gln Single submitter ⚠
p.Gly1050Arg Single submitter ⚠
p.Gly459Ala Single submitter ⚠
p.Gly540Glu Single submitter ⚠
p.Gly575Arg Single submitter ⚠
p.Gly592Ala Single submitter ⚠
p.Gly672Ala Single submitter ⚠
p.Gly784Glu Single submitter ⚠
p.Gly931Arg Single submitter ⚠
p.His188Pro Single submitter ⚠
p.His425Arg Single submitter ⚠
p.His66Arg Single submitter ⚠
p.His744Asn Single submitter ⚠
p.His846Gln Single submitter ⚠
p.Ile1077Val Single submitter ⚠
p.Ile342Met Single submitter ⚠
p.Ile524Met Single submitter ⚠
p.Ile738Leu Single submitter ⚠
p.Ile768Val Single submitter ⚠
p.Ile76Ser Single submitter ⚠
p.Ile905Val Single submitter ⚠
p.Leu12Phe Single submitter ⚠
p.Leu566Pro Single submitter ⚠
p.Leu582Arg Single submitter ⚠
p.Leu582Ile Single submitter ⚠
p.Leu697Phe Single submitter ⚠
p.Leu727Arg Single submitter ⚠
p.Leu820Ser Single submitter ⚠
p.Leu909Phe Single submitter ⚠
p.Lys124Thr Single submitter ⚠
p.Lys145Glu Single submitter ⚠
p.Lys178Asn Single submitter ⚠
p.Lys987Asn Single submitter ⚠
p.Lys993Glu Single submitter ⚠
p.Met1065Leu Single submitter ⚠
p.Met1065Val Single submitter ⚠
p.Pro187Leu Single submitter ⚠
p.Pro383Ser Single submitter ⚠
p.Pro480Ala Single submitter ⚠
p.Pro728Arg Single submitter ⚠
p.Pro78Gln Single submitter ⚠
p.Ser210Leu Single submitter ⚠
p.Ser388Asn Single submitter ⚠
p.Ser454Gly Single submitter ⚠
p.Ser516Arg Single submitter ⚠
p.Ser516Gly Single submitter ⚠
p.Ser579Pro Single submitter ⚠
p.Ser587Asn Single submitter ⚠
p.Ser616Phe Single submitter ⚠
p.Ser72Asn Single submitter ⚠
p.Ser761Cys Single submitter ⚠
p.Thr1049Ile Single submitter ⚠
p.Thr921Ala Single submitter ⚠
p.Thr921Arg Single submitter ⚠
p.Tyr136Cys Single submitter ⚠
p.Tyr202Cys Single submitter ⚠
p.Tyr596His Single submitter ⚠
p.Tyr766Asn Single submitter ⚠
p.Tyr824Cys Single submitter ⚠
p.Val146Ala Single submitter ⚠
p.Val209Ala Single submitter ⚠
p.Val478Met Single submitter ⚠
p.Val647Gly Single submitter ⚠
p.Val82Ile Single submitter ⚠
p.Val876Ala Single submitter ⚠