ARHGAP40 — 109 ClinVar variants
All ClinVar germline ARHGAP40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
5 Likely benign · 104 Uncertain significance
Full ARHGAP40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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.
- ARHGAP40 p.Ala153Val Uncertain significance Single submitter
- ARHGAP40 p.Ala200Asp Uncertain significance Single submitter
- ARHGAP40 p.Ala227Asp Uncertain significance Single submitter
- ARHGAP40 p.Ala233Val Uncertain significance Single submitter
- ARHGAP40 p.Ala296Val Uncertain significance Single submitter
- ARHGAP40 p.Ala385Gly Uncertain significance Single submitter
- ARHGAP40 p.Ala398Thr Uncertain significance Single submitter
- ARHGAP40 p.Ala423Thr Uncertain significance Single submitter
- ARHGAP40 p.Ala507Val Uncertain significance Single submitter
- ARHGAP40 p.Ala570Glu Uncertain significance Single submitter
- ARHGAP40 p.Ala68Val Uncertain significance Single submitter
- ARHGAP40 p.Arg157Gln Uncertain significance Single submitter
- ARHGAP40 p.Arg163Cys Uncertain significance Single submitter
- ARHGAP40 p.Arg163His Uncertain significance Single submitter
- ARHGAP40 p.Arg319His Uncertain significance Single submitter
- ARHGAP40 p.Arg381Thr Uncertain significance Single submitter
- ARHGAP40 p.Arg404Met Uncertain significance Single submitter
- ARHGAP40 p.Arg404Thr Uncertain significance Single submitter
- ARHGAP40 p.Arg407Gln Uncertain significance Single submitter
- ARHGAP40 p.Arg434His Uncertain significance Single submitter
- ARHGAP40 p.Arg466Gln Uncertain significance Single submitter
- ARHGAP40 p.Arg491Gln Uncertain significance Single submitter
- ARHGAP40 p.Arg491Trp Uncertain significance Single submitter
- ARHGAP40 p.Arg649Cys Uncertain significance Single submitter
- ARHGAP40 p.Arg649His Uncertain significance Single submitter
- ARHGAP40 p.Arg661Cys Uncertain significance Single submitter
- ARHGAP40 p.Arg661His Uncertain significance Single submitter
- ARHGAP40 p.Asp159Ala Uncertain significance Single submitter
- ARHGAP40 p.Asp304Asn Uncertain significance Single submitter
- ARHGAP40 p.Asp562Asn Uncertain significance Single submitter
- ARHGAP40 p.Asp562Gly Uncertain significance Single submitter
- ARHGAP40 p.Asp653Glu Uncertain significance Single submitter
- ARHGAP40 p.Gln243His Uncertain significance Single submitter
- ARHGAP40 p.Gln518Leu Uncertain significance Single submitter
- ARHGAP40 p.Glu225Gln Uncertain significance Single submitter
- ARHGAP40 p.Glu225Lys Uncertain significance Single submitter
- ARHGAP40 p.Glu467Gln Uncertain significance Single submitter
- ARHGAP40 p.Glu509Lys Uncertain significance Single submitter
- ARHGAP40 p.Gly193Asp Uncertain significance Single submitter
- ARHGAP40 p.Gly196Asp Uncertain significance Single submitter
- ARHGAP40 p.Gly302Asp Uncertain significance Single submitter
- ARHGAP40 p.Gly311Glu Uncertain significance Single submitter
- ARHGAP40 p.Gly549Val Uncertain significance Single submitter
- ARHGAP40 p.Gly76Arg Uncertain significance Single submitter
- ARHGAP40 p.His558Pro Uncertain significance Single submitter
- ARHGAP40 p.Ile442Thr Uncertain significance Single submitter
- ARHGAP40 p.Ile444Val Uncertain significance Single submitter
- ARHGAP40 p.Leu130Phe Uncertain significance Single submitter
- ARHGAP40 p.Leu142His Uncertain significance Single submitter
- ARHGAP40 p.Leu143Pro Uncertain significance Single submitter
- ARHGAP40 p.Leu301Phe Uncertain significance Single submitter
- ARHGAP40 p.Leu329Ile Uncertain significance Single submitter
- ARHGAP40 p.Leu345Phe Uncertain significance Single submitter
- ARHGAP40 p.Leu445Phe Uncertain significance Single submitter
- ARHGAP40 p.Leu495Pro Uncertain significance Single submitter
- ARHGAP40 p.Lys312Arg Uncertain significance Single submitter
- ARHGAP40 p.Lys501Asn Uncertain significance Single submitter
- ARHGAP40 p.Lys573Asn Uncertain significance Single submitter
- ARHGAP40 p.Lys613Glu Uncertain significance Single submitter
- ARHGAP40 p.Pro172Ser Uncertain significance Single submitter
- ARHGAP40 p.Pro261Leu Uncertain significance Single submitter
- ARHGAP40 p.Pro324Ser Uncertain significance Single submitter
- ARHGAP40 p.Pro429Thr Uncertain significance Single submitter
- ARHGAP40 p.Pro582Leu Uncertain significance Single submitter
- ARHGAP40 p.Pro590Thr Uncertain significance Single submitter
- ARHGAP40 p.Ser195Ala Uncertain significance Single submitter
- ARHGAP40 p.Ser203Gly Uncertain significance Single submitter
- ARHGAP40 p.Ser327Gly Uncertain significance Single submitter
- ARHGAP40 p.Ser79Asn Uncertain significance Single submitter
- ARHGAP40 p.Ser80Phe Uncertain significance Single submitter
- ARHGAP40 p.Thr273Met Uncertain significance Single submitter
- ARHGAP40 p.Thr318Ile Uncertain significance Single submitter
- ARHGAP40 p.Thr523Met Uncertain significance Single submitter
- ARHGAP40 p.Thr595Ser Uncertain significance Single submitter
- ARHGAP40 p.Thr605Ala Uncertain significance Single submitter
- ARHGAP40 p.Trp581Gly Uncertain significance Single submitter
- ARHGAP40 p.Tyr639Cys Uncertain significance Single submitter
- ARHGAP40 p.Val272Leu Uncertain significance Single submitter
- ARHGAP40 p.Val272Met Uncertain significance Single submitter
- ARHGAP40 p.Val393Leu Uncertain significance Single submitter
- ARHGAP40 p.Val510Met Uncertain significance Single submitter
- ARHGAP40 p.Val669Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ARHGAP40 p.Ala508Ser Uncertain significance Single submitter
- ARHGAP40 p.Arg434Cys Uncertain significance Single submitter
- ARHGAP40 p.Asn644Thr Uncertain significance Single submitter
- ARHGAP40 p.Asp277Glu Uncertain significance Single submitter
- ARHGAP40 p.Gly666Asp Uncertain significance Single submitter
- ARHGAP40 p.Leu110Phe Uncertain significance Single submitter
- ARHGAP40 p.Pro410Arg Uncertain significance Single submitter
- ARHGAP40 p.Val463Leu Uncertain significance Single submitter
All ARHGAP40 variants
Likely benign 5
- p.Arg249Gln Single submitter
- p.Arg249Pro Single submitter
- p.Gly193= Single submitter
- p.Val265Ile Single submitter
- p.Val286Ile Single submitter
Uncertain significance 104
- p.Ala153Val Single submitter ⚠
- p.Ala200Asp Single submitter ⚠
- p.Ala227Asp Single submitter ⚠
- p.Ala233Val Single submitter ⚠
- p.Ala296Val Single submitter ⚠
- p.Ala385Gly Single submitter ⚠
- p.Ala398Thr Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Ala508Ser Single submitter ⚠
- p.Ala570Glu Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg163Cys Single submitter ⚠
- p.Arg163His Single submitter ⚠
- p.Arg319His Single submitter ⚠
- p.Arg31Gly Single submitter
- p.Arg364Ser Single submitter
- p.Arg381Thr Single submitter ⚠
- p.Arg39Ser Single submitter
- p.Arg404Met Single submitter ⚠
- p.Arg404Thr Single submitter ⚠
- p.Arg407Gln Single submitter ⚠
- p.Arg407Trp Single submitter
- p.Arg434Cys Single submitter ⚠
- p.Arg434His Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg491Gln Single submitter ⚠
- p.Arg491Trp Single submitter ⚠
- p.Arg649Cys Single submitter ⚠
- p.Arg649His Single submitter ⚠
- p.Arg661Cys Single submitter ⚠
- p.Arg661His Single submitter ⚠
- p.Asn644Thr Single submitter ⚠
- p.Asp159Ala Single submitter ⚠
- p.Asp277Glu Single submitter ⚠
- p.Asp304Asn Single submitter ⚠
- p.Asp332Asn Single submitter
- p.Asp562Asn Single submitter ⚠
- p.Asp562Gly Single submitter ⚠
- p.Asp653Glu Single submitter ⚠
- p.Gln243His Single submitter ⚠
- p.Gln518Leu Single submitter ⚠
- p.Glu225Gln Single submitter ⚠
- p.Glu225Lys Single submitter ⚠
- p.Glu467Gln Single submitter ⚠
- p.Glu509Lys Single submitter ⚠
- p.Gly193Asp Single submitter ⚠
- p.Gly196Asp Single submitter ⚠
- p.Gly302Asp Single submitter ⚠
- p.Gly311Glu Single submitter ⚠
- p.Gly44Ala Single submitter
- p.Gly549Val Single submitter ⚠
- p.Gly666Asp Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.His558Pro Single submitter ⚠
- p.Ile442Thr Single submitter ⚠
- p.Ile444Val Single submitter ⚠
- p.Leu110Phe Single submitter ⚠
- p.Leu130Phe Single submitter ⚠
- p.Leu142His Single submitter ⚠
- p.Leu143Pro Single submitter ⚠
- p.Leu301Phe Single submitter ⚠
- p.Leu329Ile Single submitter ⚠
- p.Leu345Phe Single submitter ⚠
- p.Leu445Phe Single submitter ⚠
- p.Leu453Ser Single submitter
- p.Leu495Pro Single submitter ⚠
- p.Leu650Pro Single submitter
- p.Lys312Arg Single submitter ⚠
- p.Lys501Asn Single submitter ⚠
- p.Lys573Asn Single submitter ⚠
- p.Lys613Glu Single submitter ⚠
- p.Phe422Ile Single submitter
- p.Pro172Ser Single submitter ⚠
- p.Pro25Ser Single submitter
- p.Pro261Leu Single submitter ⚠
- p.Pro28Leu Single submitter
- p.Pro324Ser Single submitter ⚠
- p.Pro410Arg Single submitter ⚠
- p.Pro429Thr Single submitter ⚠
- p.Pro4Ser Single submitter
- p.Pro582Leu Single submitter ⚠
- p.Pro590Thr Single submitter ⚠
- p.Ser195Ala Single submitter ⚠
- p.Ser203Gly Single submitter ⚠
- p.Ser22Thr Single submitter
- p.Ser327Gly Single submitter ⚠
- p.Ser79Asn Single submitter ⚠
- p.Ser80Phe Single submitter ⚠
- p.Thr273Met Single submitter ⚠
- p.Thr318Ile Single submitter ⚠
- p.Thr523Met Single submitter ⚠
- p.Thr523Pro Single submitter
- p.Thr595Ser Single submitter ⚠
- p.Thr605Ala Single submitter ⚠
- p.Trp581Gly Single submitter ⚠
- p.Tyr639Cys Single submitter ⚠
- p.Val272Leu Single submitter ⚠
- p.Val272Met Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val463Leu Single submitter ⚠
- p.Val510Met Single submitter ⚠
- p.Val669Ile Single submitter ⚠