ARHGAP6 — 133 ClinVar variants

All ClinVar germline ARHGAP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →

2 Conflicting · 10 Benign · 17 Likely benign · 104 Uncertain significance

Full ARHGAP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 104

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 agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 81

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

Predictors split 21

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

All ARHGAP6 variants

Conflicting classifications of pathogenicity 2

p.Gly160Val Single submitter ⚠
p.Leu99Phe Single submitter ⚠

Benign 10

p.Ala533= Multiple submitters
p.Leu413= Multiple submitters
p.Leu526= Multiple submitters
p.Leu841= Multiple submitters
p.Tyr190= Multiple submitters
c.589-12_589-10del Single submitter
p.Leu926= Single submitter
p.Pro907Ala Single submitter
p.Ser693= Single submitter
p.Val904Leu Single submitter

Likely benign 17

c.589-9G>T Multiple submitters
c.1908-5G>T Single submitter
c.2176+95G>A Single submitter
c.589-11184C>T Single submitter
p.Ala57= Single submitter
p.Ala589Thr Single submitter neurodevelopmental disorder
p.Ala835= Single submitter
p.Ala846Thr Single submitter
p.Ala968Thr Single submitter
p.Arg128= Single submitter
p.Arg212= Single submitter
p.Asp733Asn Single submitter
p.Asp748= Single submitter
p.Glu111del Single submitter
p.Glu694= Single submitter
p.Pro731Thr Single submitter
p.Ser928= Single submitter

Uncertain significance 104

c.1907+1G>A Single submitter
p.Ala136Val Single submitter ⚠
p.Ala168Pro Single submitter ⚠
p.Ala289Val Single submitter ⚠
p.Ala308Val Single submitter ⚠
p.Ala600Thr Single submitter ⚠
p.Ala846Pro Single submitter ⚠
p.Ala863Gly Single submitter ⚠
p.Ala895Ser Single submitter ⚠
p.Ala968Val Single submitter ⚠
p.Arg210Trp Single submitter ⚠
p.Arg226Trp Single submitter ⚠
p.Arg442Lys Single submitter ⚠
p.Arg521Cys Single submitter ⚠
p.Arg629Ile Single submitter ⚠
p.Arg64Pro Single submitter ⚠
p.Arg78Cys Single submitter ⚠
p.Arg798Trp Single submitter ⚠
p.Arg799Met Single submitter ⚠
p.Arg810Gly Single submitter ⚠
p.Arg832Gln Single submitter ⚠
p.Arg832Trp Single submitter ⚠
p.Arg862Trp Single submitter ⚠
p.Arg879Gln Single submitter ⚠
p.Arg879Trp Single submitter ⚠
p.Arg917Gln Single submitter ⚠
p.Arg952Gly Single submitter ⚠
p.Asn164Ser Single submitter ⚠
p.Asn610Lys Single submitter ⚠
p.Asn930Ile Single submitter ⚠
p.Asp303His Single submitter ⚠
p.Asp371Glu Single submitter ⚠
p.Asp478Glu Single submitter ⚠
p.Asp625Gly Single submitter ⚠
p.Gln110Arg Single submitter ⚠
p.Gln419Lys Single submitter ⚠
p.Gln784Arg Single submitter ⚠
p.Gln910Arg Single submitter ⚠
p.Gln913Glu Single submitter ⚠
p.Glu446Lys Single submitter ⚠
p.Glu459Asp Single submitter ⚠
p.Glu484Asp Single submitter ⚠
p.Glu543Ala Single submitter ⚠
p.Glu54Gly Single submitter ⚠
p.Glu73Asp Single submitter ⚠
p.Glu916Lys Single submitter ⚠
p.Glu918Lys Single submitter ⚠
p.Glu936Lys Single submitter ⚠
p.Gly116Asp Single submitter ⚠
p.Gly162Ser Single submitter ⚠
p.Gly206Ser Single submitter ⚠
p.Gly44Arg Single submitter ⚠
p.Gly59Glu Single submitter ⚠
p.Gly736Arg Single submitter ⚠
p.Gly745Arg Single submitter ⚠
p.Gly745Glu Single submitter ⚠
p.Gly858Arg Single submitter ⚠
p.Gly911Arg Single submitter ⚠
p.His424Tyr Single submitter ⚠
p.His812Tyr Single submitter ⚠
p.His847Arg Single submitter ⚠
p.Ile276Ser Single submitter ⚠
p.Ile588Val Single submitter ⚠
p.Leu139Pro Single submitter ⚠
p.Leu262Pro Single submitter ⚠
p.Leu709Phe Single submitter ⚠
p.Leu841Val Single submitter ⚠
p.Leu854Val Single submitter ⚠
p.Lys393Asn Single submitter ⚠
p.Lys399Arg Single submitter ⚠
p.Lys400Asn Single submitter ⚠
p.Lys878Arg Single submitter ⚠
p.Met684Thr Single submitter ⚠
p.Pro182Ala Single submitter ⚠
p.Pro182Arg Single submitter ⚠
p.Pro341Leu Single submitter ⚠
p.Pro386Leu Single submitter ⚠
p.Pro77Arg Single submitter ⚠
p.Pro865Thr Single submitter ⚠
p.Pro86Leu Single submitter ⚠
p.Pro885Leu Single submitter ⚠
p.Pro901Gln Single submitter ⚠
p.Pro901Leu Single submitter ⚠
p.Ser113Ala Single submitter ⚠
p.Ser113Pro Single submitter ⚠
p.Ser115Tyr Single submitter ⚠
p.Ser203Asn Single submitter ⚠
p.Ser257Pro Single submitter ⚠
p.Ser56Asn Single submitter ⚠
p.Ser584Asn Single submitter ⚠
p.Ser584Thr Single submitter ⚠
p.Ser711Leu Single submitter ⚠
p.Ser740Leu Single submitter ⚠
p.Ser763Pro Single submitter neurodevelopmental disorder ⚠
p.Thr585Met Single submitter ⚠
p.Thr61Pro Single submitter ⚠
p.Thr794Ala Single submitter ⚠
p.Thr794Met Single submitter ⚠
p.Tyr294Cys Single submitter ⚠
p.Val192Leu Single submitter ⚠
p.Val856Ala Single submitter ⚠
p.Val974Phe Single submitter ⚠
p.Arg580Gln No assertion criteria ⚠
p.Gly559Ter No assertion criteria