ARHGAP4 — 164 ClinVar variants

All ClinVar germline ARHGAP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

1 Conflicting · 10 Benign · 26 Likely benign · 127 Uncertain significance

Full ARHGAP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 61

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

Predictors split 66

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

All ARHGAP4 variants

Conflicting classifications of pathogenicity 1

p.Thr942Ile Single submitter ⚠

Benign 10

c.2415-4G>A Multiple submitters
c.2608-6C>T Multiple submitters
p.Asp420= Multiple submitters
p.His572= Multiple submitters
p.Pro627= Multiple submitters
c.1033-1187A>G Single submitter
c.1033-1305C>T Single submitter
c.1033-1347dup Single submitter
c.67+7G>A Single submitter
p.Arg430= Single submitter

Likely benign 26

c.1032+3G>A Single submitter
c.2415-4G>T Single submitter
c.2415-5C>T Single submitter
c.682-354G>A Single submitter
c.682-390_682-378del Single submitter
p.Ala205Thr Single submitter
p.Ala311Val Single submitter ⚠
p.Ala578= Single submitter
p.Ala804= Single submitter
p.Arg854Cys Single submitter ⚠
p.Gln863Arg Single submitter
p.Gly599Ser Single submitter
p.Gly79= Single submitter
p.His263Arg Single submitter
p.Leu333= Single submitter
p.Leu414= Single submitter
p.Leu441Ile Single submitter
p.Pro739= Single submitter
p.Pro803= Single submitter
p.Ser700Leu Single submitter
p.Ser83Gly Single submitter
p.Thr288= Single submitter
p.Thr288Met Single submitter ⚠
p.Thr941Met Single submitter ⚠
p.Val328Ile Single submitter
p.Val748= Single submitter

Uncertain significance 127

p.Val705Ile Multiple submitters ⚠
c.682-292A>C Single submitter
c.682-302C>G Single submitter
c.682-331G>A Single submitter
c.682-352T>C Single submitter
c.682-386G>T Single submitter
p.Ala319Gly Single submitter ⚠
p.Ala346Ser Single submitter ⚠
p.Ala362Thr Single submitter ⚠
p.Ala547Gly Single submitter ⚠
p.Ala611Val Single submitter ⚠
p.Ala669Thr Single submitter ⚠
p.Ala715Thr Single submitter ⚠
p.Ala71Val Single submitter ⚠
p.Ala721Asp Single submitter ⚠
p.Ala721Val Single submitter ⚠
p.Ala728Val Single submitter ⚠
p.Ala740Thr Single submitter ⚠
p.Ala740Val Single submitter ⚠
p.Ala804Asp Single submitter ⚠
p.Ala804Ser Single submitter ⚠
p.Ala804Thr Single submitter ⚠
p.Ala813Thr Single submitter ⚠
p.Ala830Gly Single submitter ⚠
p.Ala845Thr Single submitter ⚠
p.Ala859Pro Single submitter ⚠
p.Ala872Val Single submitter ⚠
p.Arg111Trp Single submitter ⚠
p.Arg115Trp Single submitter ⚠
p.Arg186Gln Single submitter ⚠
p.Arg186Trp Single submitter ⚠
p.Arg198Gln Single submitter ⚠
p.Arg214Pro Single submitter ⚠
p.Arg293His Single submitter ⚠
p.Arg334Cys Single submitter ⚠
p.Arg355Trp Single submitter ⚠
p.Arg424Trp Single submitter ⚠
p.Arg43Gln Single submitter ⚠
p.Arg550Trp Single submitter ⚠
p.Arg586Trp Single submitter ⚠
p.Arg619Cys Single submitter ⚠
p.Arg693Gly Single submitter ⚠
p.Arg760Cys Single submitter ⚠
p.Arg768Trp Single submitter ⚠
p.Arg774Gln Single submitter ⚠
p.Arg774Trp Single submitter ⚠
p.Arg77His Single submitter ⚠
p.Arg792Trp Single submitter ⚠
p.Arg889Cys Single submitter ⚠
p.Arg889His Single submitter ⚠
p.Arg905Gln Single submitter ⚠
p.Arg917Ser Single submitter ⚠
p.Arg923Gln Single submitter ⚠
p.Asn534Ser Single submitter ⚠
p.Asn730Asp Single submitter ⚠
p.Asn730Ser Single submitter ⚠
p.Asp317Tyr Single submitter ⚠
p.Asp336Glu Single submitter ⚠
p.Asp356Asn Single submitter ⚠
p.Asp563Asn Single submitter ⚠
p.Asp771Gly Single submitter ⚠
p.Asp940Ala Single submitter ⚠
p.Gln20His Single submitter ⚠
p.Gln485His Single submitter ⚠
p.Gln489Arg Single submitter ⚠
p.Gln685Arg Single submitter ⚠
p.Gln685His Single submitter ⚠
p.Glu182Lys Single submitter ⚠
p.Glu323Ala Single submitter ⚠
p.Glu608Lys Single submitter ⚠
p.Glu820Gln Single submitter ⚠
p.Gly126Arg Single submitter ⚠
p.Gly506Glu Single submitter ⚠
p.Gly66Asp Single submitter ⚠
p.Gly790Ser Single submitter ⚠
p.Gly893Glu Single submitter ⚠
p.His101Tyr Single submitter ⚠
p.His4Tyr Single submitter ⚠
p.His776Gln Single submitter ⚠
p.His935Tyr Single submitter ⚠
p.Leu124Pro Single submitter ⚠
p.Leu185Val Single submitter ⚠
p.Leu224Gln Single submitter ⚠
p.Leu266Met Single submitter ⚠
p.Leu504Val Single submitter ⚠
p.Leu592Val Single submitter ⚠
p.Leu607Val Single submitter ⚠
p.Leu642Val Single submitter ⚠
p.Leu773Pro Single submitter ⚠
p.Lys490Glu Single submitter ⚠
p.Lys919Arg Single submitter ⚠
p.Met176Val Single submitter ⚠
p.Met53Val Single submitter ⚠
p.Phe593Leu Single submitter ⚠
p.Phe74Ile Single submitter ⚠
p.Phe74Leu Single submitter ⚠
p.Pro127Ser Single submitter ⚠
p.Pro314Arg Single submitter ⚠
p.Pro496Leu Single submitter ⚠
p.Pro519Leu Single submitter ⚠
p.Pro590Thr Single submitter ⚠
p.Pro591Leu Single submitter ⚠
p.Pro594Leu Single submitter ⚠
p.Pro595Arg Single submitter ⚠
p.Pro668Thr Single submitter ⚠
p.Pro673Leu Single submitter ⚠
p.Pro704Thr Single submitter ⚠
p.Pro837Ala Single submitter ⚠
p.Pro910Leu Single submitter ⚠
p.Ser449Arg Single submitter ⚠
p.Ser725Ile Single submitter ⚠
p.Ser76Ile Single submitter ⚠
p.Ser896Pro Single submitter ⚠
p.Ser934Phe Single submitter ⚠
p.Thr166Met Single submitter ⚠
p.Thr202Ala Single submitter ⚠
p.Thr442Met Single submitter ⚠
p.Thr481Ser Single submitter ⚠
p.Thr663Met Single submitter ⚠
p.Thr686Met Single submitter ⚠
p.Thr806Met Single submitter ⚠
p.Thr841Pro Single submitter ⚠
p.Val179Ala Single submitter ⚠
p.Val309Gly Single submitter ⚠
p.Val748Ile Single submitter ⚠
p.Val857Asp Single submitter ⚠
p.Val871Met Single submitter ⚠