GAS6 — 133 ClinVar variants

All ClinVar germline GAS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

9 Benign · 13 Likely benign · 111 Uncertain significance

Full GAS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 82

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

Predictors split 20

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

All GAS6 variants

Benign 9

p.Ala228Val Multiple submitters
p.Arg616Gln Multiple submitters
p.Glu612Lys Multiple submitters
p.Gly500Arg Multiple submitters
p.Ser580Leu Multiple submitters
p.Val499= Multiple submitters
c.835-8C>T Single submitter
p.Leu441= Single submitter
p.Ser597= Single submitter

Likely benign 13

c.1883-3C>T Single submitter
p.Ala132Val Single submitter
p.Ala602Thr Single submitter
p.Ala634= Single submitter
p.Arg476Lys Single submitter
p.Arg531His Single submitter
p.Asp275Asn Single submitter
p.Gln272= Single submitter
p.Ile333Val Single submitter
p.Leu335Phe Single submitter
p.Tyr99His Single submitter
p.Val464Ala Single submitter
p.Val499Ile Single submitter

Uncertain significance 111

p.Ala110Thr Single submitter ⚠
p.Ala132Thr Single submitter ⚠
p.Ala206Thr Single submitter ⚠
p.Ala206Val Single submitter ⚠
p.Ala210Glu Single submitter ⚠
p.Ala24Thr Single submitter ⚠
p.Ala406Thr Single submitter ⚠
p.Ala486Val Single submitter ⚠
p.Ala601Thr Single submitter ⚠
p.Ala638Thr Single submitter ⚠
p.Ala658Val Single submitter ⚠
p.Ala659Val Single submitter ⚠
p.Arg14His Single submitter ⚠
p.Arg14Ser Single submitter ⚠
p.Arg237Pro Single submitter ⚠
p.Arg265Leu Single submitter
p.Arg308Gln Single submitter ⚠
p.Arg318Gly Single submitter ⚠
p.Arg360Cys Single submitter ⚠
p.Arg366His Single submitter ⚠
p.Arg389Gln Single submitter ⚠
p.Arg389Trp Single submitter ⚠
p.Arg43Leu Single submitter ⚠
p.Arg514His Single submitter ⚠
p.Arg531Cys Single submitter ⚠
p.Arg594Trp Single submitter ⚠
p.Arg72His Single submitter ⚠
p.Arg76Leu Single submitter ⚠
p.Asn164Lys Single submitter
p.Asn375Ser Single submitter ⚠
p.Asn390Asp Single submitter ⚠
p.Asn390His Single submitter ⚠
p.Asn390Ser Single submitter ⚠
p.Asn449Ser Single submitter ⚠
p.Asp154Asn Single submitter ⚠
p.Asp154His Single submitter ⚠
p.Asp203Glu Single submitter ⚠
p.Asp224Glu Single submitter ⚠
p.Asp240Asn Single submitter ⚠
p.Asp263Glu Single submitter
p.Asp529Asn Single submitter ⚠
p.Asp571Asn Single submitter ⚠
p.Asp86Asn Single submitter ⚠
p.Cys153Arg Single submitter ⚠
p.Gln196His Single submitter ⚠
p.Gln244Pro Single submitter ⚠
p.Glu187Lys Single submitter ⚠
p.Glu200Asp Single submitter ⚠
p.Glu385Lys Single submitter ⚠
p.Glu430Lys Single submitter ⚠
p.Glu502Gln Single submitter ⚠
p.Glu558Gln Single submitter ⚠
p.Glu574Lys Single submitter ⚠
p.Glu589Gln Single submitter ⚠
p.Glu598Lys Single submitter
p.Gly129Trp Single submitter ⚠
p.Gly166Asp Single submitter ⚠
p.Gly264Arg Single submitter ⚠
p.Gly266Glu Single submitter ⚠
p.Gly363Ser Single submitter ⚠
p.Gly365Ser Single submitter ⚠
p.Gly371Ser Single submitter ⚠
p.Gly407Arg Single submitter ⚠
p.Gly572Asp Single submitter ⚠
p.Gly584Cys Single submitter ⚠
p.Gly584Ser Single submitter ⚠
p.Gly624Ser Single submitter ⚠
p.His261Tyr Single submitter ⚠
p.His418Tyr Single submitter ⚠
p.His559Asp Single submitter ⚠
p.Leu143Pro Single submitter
p.Leu357Val Single submitter ⚠
p.Leu391Met Single submitter ⚠
p.Leu441Pro Single submitter ⚠
p.Leu564Ile Single submitter ⚠
p.Lys547Thr Single submitter
p.Met137Thr Single submitter
p.Phe140Tyr Single submitter ⚠
p.Phe141Ser Single submitter ⚠
p.Phe186Leu Single submitter ⚠
p.Phe428Leu Single submitter ⚠
p.Pro102Leu Single submitter
p.Pro282Leu Single submitter ⚠
p.Pro316Ala Single submitter ⚠
p.Pro316Ser Single submitter ⚠
p.Pro372Leu Single submitter ⚠
p.Pro618Ala Single submitter ⚠
p.Pro630Leu Single submitter ⚠
p.Pro672Leu Single submitter ⚠
p.Pro83Ser Single submitter ⚠
p.Ser231Tyr Single submitter ⚠
p.Ser472Leu Single submitter ⚠
p.Ser478Ala Single submitter ⚠
p.Thr121Met Single submitter ⚠
p.Thr276Ile Single submitter ⚠
p.Thr461Met Single submitter ⚠
p.Thr466Met Single submitter ⚠
p.Thr474Met Single submitter ⚠
p.Tyr542Cys Single submitter ⚠
p.Val284Met Single submitter ⚠
p.Val405Met Single submitter ⚠
p.Val423Met Single submitter ⚠
p.Val434Met Single submitter ⚠
p.Val462Met Single submitter ⚠
p.Val521Met Single submitter
p.Val557Met Single submitter ⚠
p.Val577Ala Single submitter ⚠
p.Val590Ala Single submitter ⚠
p.Val610Met Single submitter ⚠
p.Val648Gly Single submitter ⚠
p.Val673Leu Single submitter ⚠