ARHGAP10 — 137 ClinVar variants

All ClinVar germline ARHGAP10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

4 Benign · 7 Likely benign · 126 Uncertain significance

Full ARHGAP10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 98

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

Predictors split 23

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

All ARHGAP10 variants

Benign 4

p.Ala405= Multiple submitters
p.Arg243= Multiple submitters
p.Ser487= Multiple submitters
p.Tyr614= Multiple submitters

Likely benign 7

p.Ile676Val Multiple submitters
c.251-3C>T Single submitter
p.Asn625Ser Single submitter
p.Gly347= Single submitter
p.Ile728Val Single submitter
p.Lys326= Single submitter
p.Ser709Leu Single submitter

Uncertain significance 126

p.Asn222Ser Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
p.Ala163Ser Single submitter ⚠
p.Ala263Thr Single submitter ⚠
p.Ala366Thr Single submitter ⚠
p.Ala532Pro Single submitter ⚠
p.Ala650Pro Single submitter ⚠
p.Arg171Gln Single submitter ⚠
p.Arg171Trp Single submitter ⚠
p.Arg19Trp Single submitter ⚠
p.Arg236Trp Single submitter ⚠
p.Arg238Leu Single submitter ⚠
p.Arg294Gln Single submitter ⚠
p.Arg491His Single submitter ⚠
p.Arg491Pro Single submitter ⚠
p.Arg575Gln Single submitter ⚠
p.Arg575Trp Single submitter ⚠
p.Arg58Gln Single submitter ⚠
p.Arg58Trp Single submitter
p.Arg729Leu Single submitter ⚠
p.Arg731Trp Single submitter ⚠
p.Arg81Gln Single submitter ⚠
p.Asn222Asp Single submitter ⚠
p.Asn378Asp Single submitter ⚠
p.Asn45Ser Single submitter ⚠
p.Asn506Lys Single submitter ⚠
p.Asn519His Single submitter ⚠
p.Asn569Lys Single submitter
p.Asn594Ser Single submitter ⚠
p.Asn594Tyr Single submitter ⚠
p.Asn689Ile Single submitter ⚠
p.Asn92Asp Single submitter ⚠
p.Asp10His Single submitter ⚠
p.Asp443Glu Single submitter ⚠
p.Asp579Gly Single submitter ⚠
p.Asp622Gly Single submitter ⚠
p.Asp66Gly Single submitter ⚠
p.Asp671Gly Single submitter ⚠
p.Asp757Asn Single submitter ⚠
p.Gln100Arg Single submitter ⚠
p.Gln362Arg Single submitter ⚠
p.Gln546Arg Single submitter ⚠
p.Gln57Lys Single submitter ⚠
p.Glu110Lys Single submitter ⚠
p.Glu180Lys Single submitter ⚠
p.Glu269Lys Single submitter
p.Glu30Asp Single submitter ⚠
p.Glu341Lys Single submitter ⚠
p.Glu357Lys Single submitter ⚠
p.Glu358Gln Single submitter ⚠
p.Glu365Gly Single submitter ⚠
p.Glu371Lys Single submitter ⚠
p.Glu489Asp Single submitter ⚠
p.Glu547Lys Single submitter ⚠
p.Glu98Lys Single submitter ⚠
p.Gly316Arg Single submitter ⚠
p.Gly347Ser Single submitter ⚠
p.Gly604Asp Single submitter ⚠
p.Gly708Arg Single submitter ⚠
p.Gly773Arg Single submitter ⚠
p.Gly776Glu Single submitter ⚠
p.His173Arg Single submitter ⚠
p.His212Arg Single submitter ⚠
p.His25Gln Single submitter ⚠
p.Ile188Val Single submitter ⚠
p.Ile332Thr Single submitter ⚠
p.Ile381Val Single submitter ⚠
p.Ile398Met Single submitter ⚠
p.Ile398Val Single submitter ⚠
p.Ile455Val Single submitter ⚠
p.Ile567Val Single submitter ⚠
p.Ile728Asn Single submitter ⚠
p.Leu116Phe Single submitter ⚠
p.Leu367Met Single submitter ⚠
p.Leu39Arg Single submitter ⚠
p.Leu616Pro Single submitter ⚠
p.Leu641Phe Single submitter ⚠
p.Leu688Pro Single submitter ⚠
p.Lys298Glu Single submitter ⚠
p.Lys312Ile Single submitter
p.Lys59Gln Single submitter ⚠
p.Lys774Thr Single submitter ⚠
p.Met104Val Single submitter ⚠
p.Met226Thr Single submitter ⚠
p.Met292Val Single submitter ⚠
p.Met352Thr Single submitter ⚠
p.Met432Leu Single submitter ⚠
p.Met471Ile Single submitter ⚠
p.Met471Val Single submitter ⚠
p.Pro199Leu Single submitter ⚠
p.Pro279Arg Single submitter ⚠
p.Pro304Leu Single submitter ⚠
p.Pro593Thr Single submitter ⚠
p.Pro596Leu Single submitter ⚠
p.Pro597Ser Single submitter ⚠
p.Pro626Thr Single submitter ⚠
p.Pro646Ser Single submitter ⚠
p.Pro704Leu Single submitter ⚠
p.Pro738Leu Single submitter ⚠
p.Ser143Thr Single submitter ⚠
p.Ser158Pro Single submitter ⚠
p.Ser178Cys Single submitter
p.Ser202Leu Single submitter ⚠
p.Ser349Pro Single submitter ⚠
p.Ser423Asn Single submitter ⚠
p.Ser424Leu Single submitter ⚠
p.Ser591Leu Single submitter ⚠
p.Ser668Arg Single submitter ⚠
p.Ser682Trp Single submitter ⚠
p.Ser697Asn Single submitter ⚠
p.Ser715Phe Single submitter ⚠
p.Ser715Thr Single submitter ⚠
p.Ser9Gly Single submitter ⚠
p.Thr138Ala Single submitter ⚠
p.Thr267Ile Single submitter ⚠
p.Thr379Ile Single submitter ⚠
p.Thr576Met Single submitter ⚠
p.Thr635Ile Single submitter ⚠
p.Thr703Ala Single submitter ⚠
p.Tyr175Cys Single submitter ⚠
p.Val108Ile Single submitter ⚠
p.Val167Ile Single submitter ⚠
p.Val287Ile Single submitter ⚠
p.Val348Ile Single submitter ⚠
p.Val499Leu Single submitter ⚠
p.Val736Met Single submitter ⚠
p.Val783Ile Single submitter ⚠