ARHGAP42 — 100 ClinVar variants

All ClinVar germline ARHGAP42 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

6 Likely benign · 94 Uncertain significance

Full ARHGAP42 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 51

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

Predictors split 31

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

All ARHGAP42 variants

Likely benign 6

c.*3526G>A Single submitter
c.*3752G>A Single submitter
c.*3826G>A Single submitter
p.Ser736Ala Single submitter
p.Thr283= Single submitter
p.Val760Ile Single submitter

Uncertain significance 94

c.*3518A>G Single submitter
c.*3523T>C Single submitter
c.*3551G>T Single submitter
c.*3554C>T Single submitter
c.*3572A>C Single submitter
c.*3622C>T Single submitter
c.*3632A>T Single submitter
c.*3634A>C Single submitter
c.*3714T>G Single submitter
c.*3793C>A Single submitter
c.*3869A>C Single submitter
c.*3870C>A Single submitter
p.Ala114Ser Single submitter ⚠
p.Ala153Thr Single submitter ⚠
p.Ala356Gly Single submitter ⚠
p.Ala360Val Single submitter ⚠
p.Ala615Asp Single submitter ⚠
p.Ala735Pro Single submitter ⚠
p.Ala744Asp Single submitter ⚠
p.Ala801Thr Single submitter ⚠
p.Arg592Gln Single submitter ⚠
p.Arg781Ser Single submitter ⚠
p.Arg794Trp Single submitter ⚠
p.Arg819Cys Single submitter ⚠
p.Arg819Ser Single submitter ⚠
p.Arg92Ser Single submitter ⚠
p.Asn150Ser Single submitter ⚠
p.Asn173Ile Single submitter ⚠
p.Asn312Ser Single submitter ⚠
p.Asn361Ser Single submitter ⚠
p.Asn396Ser Single submitter ⚠
p.Asn450Ser Single submitter ⚠
p.Asn525Lys Single submitter ⚠
p.Asn845Asp Single submitter ⚠
p.Asp168Tyr Single submitter ⚠
p.Asp333Gly Single submitter ⚠
p.Asp333Tyr Single submitter ⚠
p.Asp370Asn Single submitter ⚠
p.Asp66Asn Single submitter ⚠
p.Gln523Lys Single submitter ⚠
p.Gln524Arg Single submitter ⚠
p.Gln68Arg Single submitter ⚠
p.Glu216Lys Single submitter ⚠
p.Glu247Gly Single submitter ⚠
p.Glu466Asp Single submitter ⚠
p.Glu566Gln Single submitter ⚠
p.Glu616Lys Single submitter ⚠
p.Glu764Gly Single submitter ⚠
p.Glu764Lys Single submitter ⚠
p.Glu834Gly Single submitter ⚠
p.Gly125Asp Single submitter ⚠
p.Gly608Arg Single submitter ⚠
p.Gly673Glu Single submitter ⚠
p.Gly796Ala Single submitter ⚠
p.His349Tyr Single submitter ⚠
p.Ile27Asn Single submitter ⚠
p.Ile27Val Single submitter ⚠
p.Ile441Val Single submitter ⚠
p.Ile445Val Single submitter ⚠
p.Ile47Thr Single submitter ⚠
p.Ile510Met Single submitter ⚠
p.Ile559Val Single submitter ⚠
p.Ile597Val Single submitter ⚠
p.Ile634Val Single submitter ⚠
p.Leu204Phe Single submitter ⚠
p.Leu314Phe Single submitter ⚠
p.Leu540Val Single submitter ⚠
p.Lys132Arg Single submitter ⚠
p.Lys155Arg Single submitter ⚠
p.Lys34Arg Single submitter ⚠
p.Lys384Gln Single submitter ⚠
p.Lys513Asn Single submitter ⚠
p.Lys694Arg Single submitter ⚠
p.Met305Val Single submitter ⚠
p.Met778Thr Single submitter ⚠
p.Pro199Leu Single submitter ⚠
p.Pro263Leu Single submitter ⚠
p.Pro319Leu Single submitter ⚠
p.Pro319Ser Single submitter ⚠
p.Pro668Leu Single submitter ⚠
p.Pro770Leu Single submitter ⚠
p.Pro814Ala Single submitter ⚠
p.Ser317Arg Single submitter ⚠
p.Ser317Gly Single submitter ⚠
p.Ser646Asn Single submitter ⚠
p.Ser706Pro Single submitter ⚠
p.Ser737Phe Single submitter ⚠
p.Ser816Pro Single submitter ⚠
p.Ser817Phe Single submitter ⚠
p.Thr681Ala Single submitter ⚠
p.Tyr175Cys Single submitter ⚠
p.Tyr725Cys Single submitter ⚠
p.Val188Leu Single submitter ⚠
p.Val274Ala Single submitter ⚠