ARHGAP11A — 143 ClinVar variants

All ClinVar germline ARHGAP11A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

1 Likely pathogenic · 8 Benign · 11 Likely benign · 123 Uncertain significance

Full ARHGAP11A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 96

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

Predictors split 28

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

All ARHGAP11A variants

Likely pathogenic 1

p.Thr790_Cys791insTer Single submitter Inborn genetic diseases

Benign 8

c.1235+5T>G Multiple submitters
p.Arg400= Multiple submitters
p.Asn978= Multiple submitters
p.Gln903= Multiple submitters
p.Pro366= Multiple submitters
p.Asp333His Single submitter
p.Leu109= Single submitter
p.Thr329Ala Single submitter

Likely benign 11

p.Arg240His Single submitter
p.Cys751Tyr Single submitter
p.Gly663= Single submitter
p.His104Arg Single submitter
p.Ile651Val Single submitter
p.Leu231Phe Single submitter ⚠
p.Leu264= Single submitter
p.Met780Val Single submitter
p.Pro113Leu Single submitter
p.Pro749Leu Single submitter
p.Val893Ile Single submitter

Uncertain significance 123

p.Ala112Ser Single submitter ⚠
p.Ala112Val Single submitter ⚠
p.Ala235Thr Single submitter ⚠
p.Ala251Ser Single submitter ⚠
p.Ala251Val Single submitter ⚠
p.Ala326Asp Single submitter ⚠
p.Ala39Thr Single submitter ⚠
p.Ala887Val Single submitter ⚠
p.Ala915Thr Single submitter ⚠
p.Arg27Leu Single submitter ⚠
p.Arg328Cys Single submitter ⚠
p.Arg328His Single submitter ⚠
p.Arg436Cys Single submitter ⚠
p.Arg463Gln Single submitter ⚠
p.Arg511Gln Single submitter ⚠
p.Arg684Lys Single submitter ⚠
p.Arg805Lys Single submitter ⚠
p.Arg824Ser Single submitter ⚠
p.Arg839Cys Single submitter ⚠
p.Arg94His Single submitter ⚠
p.Arg996Gly Single submitter ⚠
p.Asn526Tyr Single submitter ⚠
p.Asn52His Single submitter ⚠
p.Asn589Lys Single submitter ⚠
p.Asn976Ile Single submitter ⚠
p.Asn987Ile Single submitter ⚠
p.Asp103Gly Single submitter ⚠
p.Asp486Asn Single submitter ⚠
p.Asp533Asn Single submitter ⚠
p.Asp702Tyr Single submitter ⚠
p.Asp710Glu Single submitter ⚠
p.Asp890Ala Single submitter ⚠
p.Asp955Tyr Single submitter ⚠
p.Asp955Val Single submitter ⚠
p.Cys259Tyr Single submitter ⚠
p.Cys908Phe Single submitter ⚠
p.Gln530Glu Single submitter ⚠
p.Gln950Arg Single submitter ⚠
p.Glu376Gly Single submitter ⚠
p.Glu414Lys Single submitter ⚠
p.Glu475Lys Single submitter ⚠
p.Glu594Lys Single submitter ⚠
p.Glu645Gly Single submitter ⚠
p.Glu666Lys Single submitter ⚠
p.Glu700Ala Single submitter ⚠
p.Glu739Lys Single submitter ⚠
p.Glu741Lys Single submitter ⚠
p.Glu789Asp Single submitter ⚠
p.Glu83Asp Single submitter ⚠
p.Glu850Ala Single submitter ⚠
p.Glu922Asp Single submitter ⚠
p.Gly1010Arg Single submitter ⚠
p.Gly20Val Single submitter ⚠
p.Gly257Val Single submitter ⚠
p.Gly266Asp Single submitter ⚠
p.Gly390Arg Single submitter ⚠
p.Gly445Val Single submitter ⚠
p.Gly480Asp Single submitter ⚠
p.Gly480Ser Single submitter ⚠
p.Gly878Ala Single submitter ⚠
p.Gly878Val Single submitter ⚠
p.Gly956Asp Single submitter ⚠
p.His169Arg Single submitter ⚠
p.His336Tyr Single submitter ⚠
p.His370Asp Single submitter ⚠
p.Ile249Met Single submitter ⚠
p.Ile346Phe Single submitter ⚠
p.Ile388Val Single submitter ⚠
p.Ile474Ser Single submitter ⚠
p.Ile499Met Single submitter ⚠
p.Ile554Thr Single submitter ⚠
p.Ile688Val Single submitter ⚠
p.Ile896Asn Single submitter ⚠
p.Leu120His Single submitter ⚠
p.Leu322Phe Single submitter ⚠
p.Leu330Phe Single submitter ⚠
p.Leu470Ser Single submitter ⚠
p.Leu482His Single submitter ⚠
p.Leu733Val Single submitter ⚠
p.Leu788Ser Single submitter ⚠
p.Leu942Val Single submitter ⚠
p.Lys750Asn Single submitter ⚠
p.Met519Arg Single submitter ⚠
p.Met744Lys Single submitter ⚠
p.Met906Val Single submitter ⚠
p.Met979Val Single submitter ⚠
p.Phe483Tyr Single submitter ⚠
p.Pro114Ala Single submitter ⚠
p.Pro250Thr Single submitter ⚠
p.Pro303Thr Single submitter ⚠
p.Pro366Leu Single submitter ⚠
p.Pro423Ser Single submitter ⚠
p.Pro524Ser Single submitter ⚠
p.Pro552Thr Single submitter ⚠
p.Pro560Thr Single submitter ⚠
p.Pro632Gln Single submitter ⚠
p.Pro676His Single submitter ⚠
p.Pro749Ser Single submitter ⚠
p.Pro822Leu Single submitter ⚠
p.Pro993Thr Single submitter ⚠
p.Ser160Cys Single submitter ⚠
p.Ser214Phe Single submitter ⚠
p.Ser422Pro Single submitter ⚠
p.Ser549Ala Single submitter ⚠
p.Ser604Ala Single submitter ⚠
p.Ser762Cys Single submitter ⚠
p.Ser796Phe Single submitter ⚠
p.Ser818Ala Single submitter ⚠
p.Ser818Phe Single submitter ⚠
p.Ser868Ala Single submitter ⚠
p.Ser873Thr Single submitter ⚠
p.Ser927Tyr Single submitter ⚠
p.Ser982Tyr Single submitter ⚠
p.Thr479Ala Single submitter ⚠
p.Thr580Arg Single submitter ⚠
p.Thr650Ile Single submitter ⚠
p.Thr772Ile Single submitter ⚠
p.Tyr19His Single submitter ⚠
p.Val197Ile Single submitter ⚠
p.Val513Ala Single submitter ⚠
p.Val597Ala Single submitter ⚠
p.Val7Leu Single submitter ⚠
p.Val938Met Single submitter ⚠