ADAMTS14 — 267 ClinVar variants

All ClinVar germline ADAMTS14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 243 flagged for review →

1 Conflicting · 4 Benign · 21 Likely benign · 241 Uncertain significance

Full ADAMTS14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 243

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 114

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

Predictors split 129

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

All ADAMTS14 variants

Conflicting classifications of pathogenicity 1

p.Ala175Val Single submitter ⚠

Benign 4

c.870+3G>A Multiple submitters
p.Asp172= Multiple submitters
p.Glu1049Gly Multiple submitters
p.Gly245= Multiple submitters

Likely benign 21

p.Ala1131Val Single submitter
p.Ala643Thr Single submitter
p.Ala810Val Single submitter
p.Arg1147Gln Single submitter
p.Arg120His Single submitter
p.Arg149Gln Single submitter
p.Arg149Trp Single submitter
p.Gln430= Single submitter
p.Gly1174Arg Single submitter
p.Gly1206Arg Single submitter
p.Gly368= Single submitter
p.Gly66Glu Single submitter
p.Ile261= Single submitter
p.Pro1171Leu Single submitter
p.Pro905Leu Single submitter
p.Thr1196= Single submitter
p.Thr814Ala Single submitter
p.Thr913Met Single submitter ⚠
p.Tyr872= Single submitter
p.Val302Ala Single submitter
p.Val827Ile Single submitter

Uncertain significance 241

p.Gly532Ser Multiple submitters ⚠
p.Ala1130Asp Single submitter ⚠
p.Ala167Ser Single submitter ⚠
p.Ala17Pro Single submitter ⚠
p.Ala21Thr Single submitter ⚠
p.Ala22Ser Single submitter ⚠
p.Ala339Val Single submitter ⚠
p.Ala370Val Single submitter ⚠
p.Ala397Thr Single submitter ⚠
p.Ala426Glu Single submitter ⚠
p.Ala729Thr Single submitter ⚠
p.Ala739Ser Single submitter ⚠
p.Ala739Thr Single submitter ⚠
p.Ala852Thr Single submitter ⚠
p.Ala949Val Single submitter ⚠
p.Arg100Ser Single submitter ⚠
p.Arg1078Cys Single submitter ⚠
p.Arg1087Gln Single submitter ⚠
p.Arg1087Trp Single submitter ⚠
p.Arg120Cys Single submitter ⚠
p.Arg122Gln Single submitter ⚠
p.Arg126Thr Single submitter ⚠
p.Arg141Trp Single submitter ⚠
p.Arg145Gln Single submitter ⚠
p.Arg145Trp Single submitter ⚠
p.Arg179His Single submitter ⚠
p.Arg209Gln Single submitter ⚠
p.Arg209Trp Single submitter ⚠
p.Arg249Gln Single submitter ⚠
p.Arg251Gln Single submitter ⚠
p.Arg252Gln Single submitter ⚠
p.Arg252Trp Single submitter ⚠
p.Arg25Trp Single submitter ⚠
p.Arg310Cys Single submitter ⚠
p.Arg310His Single submitter ⚠
p.Arg317Gln Single submitter ⚠
p.Arg337Cys Single submitter ⚠
p.Arg344Cys Single submitter ⚠
p.Arg361Trp Single submitter ⚠
p.Arg435Pro Single submitter ⚠
p.Arg440His Single submitter ⚠
p.Arg440Ser Single submitter ⚠
p.Arg448Cys Single submitter ⚠
p.Arg448His Single submitter ⚠
p.Arg483Cys Single submitter ⚠
p.Arg483His Single submitter ⚠
p.Arg49Trp Single submitter ⚠
p.Arg51Cys Single submitter ⚠
p.Arg566Gln Single submitter ⚠
p.Arg577Trp Single submitter ⚠
p.Arg614Gln Single submitter ⚠
p.Arg621Cys Single submitter ⚠
p.Arg670Cys Single submitter ⚠
p.Arg670His Single submitter ⚠
p.Arg753Cys Single submitter ⚠
p.Arg776Gln Single submitter ⚠
p.Arg776Trp Single submitter ⚠
p.Arg819Cys Single submitter ⚠
p.Arg819His Single submitter ⚠
p.Arg84Gly Single submitter ⚠
p.Arg84Trp Single submitter ⚠
p.Arg875Gln Single submitter ⚠
p.Arg876His Single submitter ⚠
p.Arg898Cys Single submitter ⚠
p.Arg898His Single submitter ⚠
p.Arg899Trp Single submitter ⚠
p.Arg900Cys Single submitter ⚠
p.Arg900His Single submitter ⚠
p.Arg921Gln Single submitter ⚠
p.Arg931Gln Single submitter ⚠
p.Arg956Gln Single submitter ⚠
p.Arg956Leu Single submitter ⚠
p.Arg956Trp Single submitter ⚠
p.Arg991Trp Single submitter ⚠
p.Asn1024His Single submitter ⚠
p.Asn109His Single submitter ⚠
p.Asn282Ile Single submitter ⚠
p.Asn512Ile Single submitter ⚠
p.Asn580His Single submitter ⚠
p.Asn758Ser Single submitter ⚠
p.Asn902Ser Single submitter ⚠
p.Asn941Lys Single submitter ⚠
p.Asn941Ser Single submitter ⚠
p.Asp242Asn Single submitter ⚠
p.Asp246Asn Single submitter ⚠
p.Asp246Tyr Single submitter ⚠
p.Asp292Glu Single submitter ⚠
p.Asp297Asn Single submitter ⚠
p.Asp354Glu Single submitter ⚠
p.Asp454Asn Single submitter ⚠
p.Asp640Asn Single submitter ⚠
p.Asp641Asn Single submitter ⚠
p.Asp667Gly Single submitter ⚠
p.Asp675Glu Single submitter ⚠
p.Asp879Glu Single submitter ⚠
p.Asp955Gly Single submitter ⚠
p.Asp955Tyr Single submitter ⚠
p.Cys19Ser Single submitter ⚠
p.Cys44Tyr Single submitter ⚠
p.Cys455Tyr Single submitter ⚠
p.Cys493Phe Single submitter ⚠
p.Cys540Tyr Single submitter ⚠
p.Cys568Trp Single submitter ⚠
p.Cys690Tyr Single submitter ⚠
p.Cys923Gly Single submitter ⚠
p.Cys980Trp Single submitter ⚠
p.Cys980Tyr Single submitter ⚠
p.Cys995Arg Single submitter ⚠
p.Gln195Pro Single submitter ⚠
p.Gln214His Single submitter ⚠
p.Gln467Pro Single submitter ⚠
p.Gln481Pro Single submitter ⚠
p.Gln599Lys Single submitter ⚠
p.Gln663Arg Single submitter ⚠
p.Gln934Arg Single submitter ⚠
p.Gln992His Single submitter ⚠
p.Glu1006Lys Single submitter ⚠
p.Glu1049Asp Single submitter ⚠
p.Glu1074Lys Single submitter ⚠
p.Glu262Lys Single submitter ⚠
p.Glu298Lys Single submitter ⚠
p.Glu324Lys Single submitter ⚠
p.Glu500Lys Single submitter ⚠
p.Glu597Lys Single submitter ⚠
p.Glu604Lys Single submitter ⚠
p.Glu605Lys Single submitter ⚠
p.Glu638Lys Single submitter ⚠
p.Glu693Lys Single submitter ⚠
p.Gly1065Arg Single submitter ⚠
p.Gly1084Ser Single submitter ⚠
p.Gly1123Ala Single submitter ⚠
p.Gly114Arg Single submitter ⚠
p.Gly1213Ser Single submitter ⚠
p.Gly131Val Single submitter ⚠
p.Gly173Arg Single submitter ⚠
p.Gly221Arg Single submitter ⚠
p.Gly245Ser Single submitter ⚠
p.Gly257Asp Single submitter ⚠
p.Gly276Asp Single submitter ⚠
p.Gly405Ser Single submitter ⚠
p.Gly412Ala Single submitter ⚠
p.Gly550Ser Single submitter ⚠
p.Gly689Cys Single submitter ⚠
p.Gly707Arg Single submitter ⚠
p.Gly718Glu Single submitter ⚠
p.Gly762Arg Single submitter ⚠
p.Gly762Ser Single submitter ⚠
p.Gly873Ser Single submitter ⚠
p.Gly917Asp Single submitter ⚠
p.Gly917Ser Single submitter ⚠
p.Gly93Glu Single submitter ⚠
p.Gly954Arg Single submitter ⚠
p.His1052Arg Single submitter ⚠
p.His303Arg Single submitter ⚠
p.His340Gln Single submitter ⚠
p.His377Gln Single submitter ⚠
p.Ile1179Asn Single submitter ⚠
p.Ile754Thr Single submitter ⚠
p.Leu1002Phe Single submitter ⚠
p.Leu1121Phe Single submitter ⚠
p.Leu287Phe Single submitter ⚠
p.Leu31Phe Single submitter ⚠
p.Leu404Phe Single submitter ⚠
p.Leu53Pro Single submitter ⚠
p.Leu802Pro Single submitter ⚠
p.Leu887Val Single submitter ⚠
p.Leu937Pro Single submitter ⚠
p.Leu939Ile Single submitter ⚠
p.Lys115Met Single submitter ⚠
p.Lys891Asn Single submitter ⚠
p.Met1073Thr Single submitter ⚠
p.Met161Ile Single submitter ⚠
p.Met161Val Single submitter ⚠
p.Met313Val Single submitter ⚠
p.Phe394Ile Single submitter ⚠
p.Phe496Leu Single submitter ⚠
p.Pro1113Arg Single submitter ⚠
p.Pro1113Leu Single submitter ⚠
p.Pro1113Ser Single submitter ⚠
p.Pro1165Ser Single submitter ⚠
p.Pro1195Ser Single submitter ⚠
p.Pro123Arg Single submitter ⚠
p.Pro162Ser Single submitter ⚠
p.Pro371Ser Single submitter ⚠
p.Pro510His Single submitter ⚠
p.Pro510Thr Single submitter ⚠
p.Pro513Leu Single submitter ⚠
p.Pro522Leu Single submitter ⚠
p.Pro522Thr Single submitter ⚠
p.Pro607Ser Single submitter ⚠
p.Pro639Thr Single submitter ⚠
p.Pro803Ser Single submitter ⚠
p.Pro812Ala Single submitter ⚠
p.Pro812Arg Single submitter ⚠
p.Pro813Ala Single submitter ⚠
p.Pro813Arg Single submitter ⚠
p.Pro813Gln Single submitter ⚠
p.Pro813Ser Single submitter ⚠
p.Pro813Thr Single submitter ⚠
p.Pro818Ser Single submitter ⚠
p.Pro98Ser Single submitter ⚠
p.Ser1098Leu Single submitter ⚠
p.Ser1110Leu Single submitter ⚠
p.Ser1115Cys Single submitter ⚠
p.Ser1220Tyr Single submitter ⚠
p.Ser439Phe Single submitter ⚠
p.Ser477Leu Single submitter ⚠
p.Ser633Asn Single submitter ⚠
p.Ser652Leu Single submitter ⚠
p.Ser799Arg Single submitter ⚠
p.Thr1039Met Single submitter ⚠
p.Thr1060Met Single submitter ⚠
p.Thr1064Met Single submitter ⚠
p.Thr1183Ala Single submitter ⚠
p.Thr1183Asn Single submitter ⚠
p.Thr247Ile Single submitter ⚠
p.Thr286Asn Single submitter ⚠
p.Thr41Ile Single submitter ⚠
p.Thr492Asn Single submitter ⚠
p.Thr719Met Single submitter ⚠
p.Thr774Ile Single submitter ⚠
p.Thr95Ile Single submitter ⚠
p.Trp465Arg Single submitter ⚠
p.Trp534Cys Single submitter ⚠
p.Tyr625Phe Single submitter ⚠
p.Tyr673Asn Single submitter ⚠
p.Val101Met Single submitter ⚠
p.Val395Met Single submitter ⚠
p.Val56Met Single submitter ⚠
p.Val57Met Single submitter ⚠
p.Val600Asp Single submitter ⚠
p.Val626Met Single submitter ⚠
p.Val664Met Single submitter ⚠
p.Val679Ile Single submitter ⚠
p.Val70Met Single submitter ⚠
p.Val716Met Single submitter ⚠
p.Val733Leu Single submitter ⚠
p.Val789Met Single submitter ⚠
p.Val883Met Single submitter ⚠
p.Val928Leu Single submitter ⚠
p.Arg440Cys No assertion criteria Fraser syndrome 3 ⚠