ADAMTS8 — 163 ClinVar variants

All ClinVar germline ADAMTS8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

6 Likely benign · 157 Uncertain significance

Full ADAMTS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 72

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 ADAMTS8 variants

Likely benign 6

p.Ala482Ser Single submitter
p.Glu483= Single submitter
p.Gly142Asp Single submitter
p.His550Tyr Single submitter
p.Pro458Leu Single submitter ⚠
p.Ser190Gly Single submitter

Uncertain significance 157

p.Ala114Val Single submitter ⚠
p.Ala115Glu Single submitter ⚠
p.Ala335Thr Single submitter ⚠
p.Ala33Thr Single submitter ⚠
p.Ala37Thr Single submitter ⚠
p.Ala428Asp Single submitter ⚠
p.Ala431Val Single submitter ⚠
p.Ala473Thr Single submitter ⚠
p.Ala482Thr Single submitter ⚠
p.Ala4Val Single submitter ⚠
p.Ala69Ser Single submitter ⚠
p.Ala69Val Single submitter ⚠
p.Ala873Val Single submitter ⚠
p.Ala90Glu Single submitter ⚠
p.Arg120Ser Single submitter ⚠
p.Arg152Leu Single submitter ⚠
p.Arg163Gln Single submitter ⚠
p.Arg176Ser Single submitter ⚠
p.Arg25Cys Single submitter ⚠
p.Arg291Pro Single submitter ⚠
p.Arg298Gln Single submitter ⚠
p.Arg299His Single submitter ⚠
p.Arg306His Single submitter ⚠
p.Arg381Gln Single submitter ⚠
p.Arg453Gly Single submitter ⚠
p.Arg540Gln Single submitter ⚠
p.Arg540Trp Single submitter ⚠
p.Arg551Cys Single submitter ⚠
p.Arg620Gln Single submitter ⚠
p.Arg620Trp Single submitter ⚠
p.Arg622Pro Single submitter ⚠
p.Arg658His Single submitter ⚠
p.Arg674Trp Single submitter ⚠
p.Arg690Lys Single submitter ⚠
p.Arg721Gln Single submitter ⚠
p.Arg721Gly Single submitter ⚠
p.Arg775His Single submitter ⚠
p.Arg780Gln Single submitter ⚠
p.Arg780Trp Single submitter ⚠
p.Arg855Gln Single submitter ⚠
p.Arg89Trp Single submitter ⚠
p.Arg98Gly Single submitter ⚠
p.Asn241Ser Single submitter ⚠
p.Asn599Tyr Single submitter ⚠
p.Asn731Tyr Single submitter ⚠
p.Asp185Asn Single submitter ⚠
p.Asp238Asn Single submitter ⚠
p.Asp312His Single submitter ⚠
p.Asp352Ala Single submitter ⚠
p.Asp374Glu Single submitter ⚠
p.Asp374His Single submitter ⚠
p.Asp375Asn Single submitter ⚠
p.Asp449Asn Single submitter ⚠
p.Asp480Asn Single submitter ⚠
p.Asp583Asn Single submitter ⚠
p.Asp604Tyr Single submitter ⚠
p.Cys323Arg Single submitter ⚠
p.Cys452Arg Single submitter ⚠
p.Cys553Gly Single submitter ⚠
p.Cys575Tyr Single submitter ⚠
p.Gln146His Single submitter ⚠
p.Gln151Lys Single submitter ⚠
p.Gln191Pro Single submitter ⚠
p.Glu194Gly Single submitter ⚠
p.Glu200Lys Single submitter ⚠
p.Glu557Lys Single submitter ⚠
p.Glu578Gly Single submitter ⚠
p.Glu639Gln Single submitter ⚠
p.Glu639Lys Single submitter ⚠
p.Glu78Lys Single submitter ⚠
p.Glu858Lys Single submitter ⚠
p.Gly104Ser Single submitter ⚠
p.Gly124Ser Single submitter ⚠
p.Gly130Ser Single submitter ⚠
p.Gly197Asp Single submitter ⚠
p.Gly197Val Single submitter ⚠
p.Gly236Arg Single submitter ⚠
p.Gly26Asp Single submitter ⚠
p.Gly327Arg Single submitter ⚠
p.Gly34Arg Single submitter ⚠
p.Gly34Trp Single submitter ⚠
p.Gly35Glu Single submitter ⚠
p.Gly419Asp Single submitter ⚠
p.Gly420Arg Single submitter ⚠
p.Gly498Ser Single submitter ⚠
p.Gly502Arg Single submitter ⚠
p.Gly504Glu Single submitter ⚠
p.Gly536Glu Single submitter ⚠
p.Gly665Ser Single submitter ⚠
p.Gly683Arg Single submitter ⚠
p.Gly686Ser Single submitter ⚠
p.Gly768Ser Single submitter ⚠
p.Gly795Ser Single submitter ⚠
p.Gly849Arg Single submitter ⚠
p.Gly851Ser Single submitter ⚠
p.Gly85Ala Single submitter ⚠
p.Gly93Ser Single submitter ⚠
p.Gly96Arg Single submitter ⚠
p.His505Tyr Single submitter ⚠
p.His550Gln Single submitter ⚠
p.Ile259Met Single submitter ⚠
p.Ile455Thr Single submitter ⚠
p.Ile753Met Single submitter ⚠
p.Leu399Pro Single submitter ⚠
p.Leu485Arg Single submitter ⚠
p.Leu57Gln Single submitter ⚠
p.Leu607Val Single submitter ⚠
p.Leu75Gln Single submitter ⚠
p.Lys594Asn Single submitter ⚠
p.Lys613Glu Single submitter ⚠
p.Lys62Asn Single submitter ⚠
p.Lys62Glu Single submitter ⚠
p.Met247Thr Single submitter ⚠
p.Met266Thr Single submitter ⚠
p.Met411Thr Single submitter ⚠
p.Phe101Cys Single submitter ⚠
p.Phe101Leu Single submitter ⚠
p.Phe64Leu Single submitter ⚠
p.Pro12Leu Single submitter ⚠
p.Pro147Leu Single submitter ⚠
p.Pro155Ser Single submitter ⚠
p.Pro440Ser Single submitter ⚠
p.Pro500Leu Single submitter ⚠
p.Pro581Ser Single submitter ⚠
p.Pro5Ser Single submitter ⚠
p.Pro724Ala Single submitter ⚠
p.Pro800Ala Single submitter ⚠
p.Pro800Arg Single submitter ⚠
p.Pro800Gln Single submitter ⚠
p.Ser186Arg Single submitter ⚠
p.Ser258Gly Single submitter ⚠
p.Ser258Thr Single submitter ⚠
p.Ser467Cys Single submitter ⚠
p.Ser49Asn Single submitter ⚠
p.Ser539Pro Single submitter ⚠
p.Ser672Leu Single submitter ⚠
p.Ser818Gly Single submitter ⚠
p.Ser87Phe Single submitter ⚠
p.Thr171Met Single submitter ⚠
p.Thr208Arg Single submitter ⚠
p.Thr223Arg Single submitter ⚠
p.Thr313Met Single submitter ⚠
p.Thr466Ile Single submitter ⚠
p.Thr488Met Single submitter ⚠
p.Thr499Met Single submitter ⚠
p.Thr699Asn Single submitter ⚠
p.Thr787Ile Single submitter ⚠
p.Trp841Cys Single submitter ⚠
p.Tyr572His Single submitter ⚠
p.Tyr766Cys Single submitter ⚠
p.Tyr804His Single submitter ⚠
p.Val349Met Single submitter ⚠
p.Val368Ile Single submitter ⚠
p.Val669Met Single submitter ⚠
p.Val718Met Single submitter ⚠
p.Val857Leu Single submitter ⚠
p.Tyr703Ter No assertion criteria Mobius syndrome