ARHGAP30 — 164 ClinVar variants

All ClinVar germline ARHGAP30 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

8 Likely benign · 156 Uncertain significance

Full ARHGAP30 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 143

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

Predictors split 12

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

All ARHGAP30 variants

Likely benign 8

p.Arg135Gln Single submitter
p.Arg668Thr Single submitter
p.Arg710Gly Single submitter
p.Ile750Thr Single submitter
p.Leu177= Single submitter
p.Leu620= Single submitter
p.Lys812Glu Single submitter
p.Val600Ala Single submitter

Uncertain significance 156

c.1420+1G>C Single submitter
p.Ala1041Val Single submitter ⚠
p.Ala13Thr Single submitter ⚠
p.Ala237Thr Single submitter ⚠
p.Ala479Pro Single submitter ⚠
p.Ala482Thr Single submitter ⚠
p.Ala539Thr Single submitter ⚠
p.Ala594Thr Single submitter ⚠
p.Ala644Val Single submitter ⚠
p.Ala663Thr Single submitter ⚠
p.Ala726Thr Single submitter ⚠
p.Ala831Val Single submitter ⚠
p.Ala925Asp Single submitter ⚠
p.Ala979Val Single submitter ⚠
p.Arg1007His Single submitter ⚠
p.Arg1009Lys Single submitter ⚠
p.Arg1032Ser Single submitter ⚠
p.Arg1045Gln Single submitter ⚠
p.Arg1063Trp Single submitter ⚠
p.Arg1065Cys Single submitter ⚠
p.Arg1084Cys Single submitter ⚠
p.Arg109Gln Single submitter ⚠
p.Arg135Trp Single submitter ⚠
p.Arg236Gln Single submitter ⚠
p.Arg267Trp Single submitter ⚠
p.Arg304Cys Single submitter ⚠
p.Arg308Gln Single submitter ⚠
p.Arg351Gln Single submitter ⚠
p.Arg393Trp Single submitter ⚠
p.Arg406Cys Single submitter ⚠
p.Arg445His Single submitter ⚠
p.Arg455Trp Single submitter ⚠
p.Arg74Gln Single submitter ⚠
p.Arg79His Single submitter ⚠
p.Arg838Trp Single submitter ⚠
p.Arg923His Single submitter ⚠
p.Arg935His Single submitter ⚠
p.Arg970Gln Single submitter ⚠
p.Arg970Trp Single submitter ⚠
p.Arg978Ser Single submitter ⚠
p.Arg983Pro Single submitter ⚠
p.Arg990Thr Single submitter ⚠
p.Asn318Lys Single submitter ⚠
p.Asn604Thr Single submitter ⚠
p.Asp493Asn Single submitter ⚠
p.Asp500Tyr Single submitter ⚠
p.Asp573Asn Single submitter ⚠
p.Asp670Glu Single submitter ⚠
p.Asp755Glu Single submitter ⚠
p.Asp797Tyr Single submitter ⚠
p.Asp799Asn Single submitter ⚠
p.Asp813Asn Single submitter ⚠
p.Asp873Glu Single submitter ⚠
p.Cys407Arg Single submitter ⚠
p.Cys874Tyr Single submitter ⚠
p.Cys909Arg Single submitter ⚠
p.Cys911Tyr Single submitter ⚠
p.Cys913Ser Single submitter ⚠
p.Gln1092Arg Single submitter ⚠
p.Gln533Glu Single submitter ⚠
p.Gln757Leu Single submitter ⚠
p.Gln903His Single submitter ⚠
p.Glu1023Lys Single submitter ⚠
p.Glu1099Lys Single submitter ⚠
p.Glu146Gly Single submitter ⚠
p.Glu32Gln Single submitter ⚠
p.Glu32Lys Single submitter ⚠
p.Glu555Ala Single submitter ⚠
p.Glu607Asp Single submitter ⚠
p.Glu607Lys Single submitter ⚠
p.Glu650Ala Single submitter ⚠
p.Glu659Val Single submitter ⚠
p.Glu711Asp Single submitter ⚠
p.Glu736Ala Single submitter ⚠
p.Glu798Gln Single submitter ⚠
p.Glu798Val Single submitter ⚠
p.Glu818Gly Single submitter ⚠
p.Glu837Lys Single submitter ⚠
p.Glu858Gly Single submitter ⚠
p.Glu863Lys Single submitter ⚠
p.Glu884Val Single submitter ⚠
p.Glu901Asp Single submitter ⚠
p.Gly1014Glu Single submitter ⚠
p.Gly1024Ser Single submitter ⚠
p.Gly1025Glu Single submitter ⚠
p.Gly1059Arg Single submitter ⚠
p.Gly228Ala Single submitter ⚠
p.Gly234Glu Single submitter ⚠
p.Gly296Arg Single submitter ⚠
p.Gly343Arg Single submitter ⚠
p.Gly380Ala Single submitter ⚠
p.Gly621Arg Single submitter ⚠
p.Gly635Arg Single submitter ⚠
p.Gly641Ala Single submitter ⚠
p.Gly648Ser Single submitter ⚠
p.Gly649Arg Single submitter ⚠
p.Gly708Arg Single submitter ⚠
p.Gly739Arg Single submitter ⚠
p.Gly919Ser Single submitter ⚠
p.Ile202Val Single submitter ⚠
p.Ile256Met Single submitter ⚠
p.Ile435Thr Single submitter ⚠
p.Leu208Phe Single submitter ⚠
p.Leu468Pro Single submitter ⚠
p.Leu619Pro Single submitter ⚠
p.Lys2Arg Single submitter ⚠
p.Lys476Asn Single submitter ⚠
p.Lys876Thr Single submitter ⚠
p.Lys948Arg Single submitter ⚠
p.Met155Thr Single submitter ⚠
p.Met885Leu Single submitter ⚠
p.Pro1073Thr Single submitter ⚠
p.Pro341Ala Single submitter ⚠
p.Pro354Thr Single submitter ⚠
p.Pro450Ser Single submitter ⚠
p.Pro456Arg Single submitter ⚠
p.Pro456Ser Single submitter ⚠
p.Pro485Thr Single submitter ⚠
p.Pro496Ser Single submitter ⚠
p.Pro521Ser Single submitter ⚠
p.Pro543Arg Single submitter ⚠
p.Pro571Thr Single submitter ⚠
p.Pro904Arg Single submitter ⚠
p.Pro912Ser Single submitter ⚠
p.Ser231Leu Single submitter ⚠
p.Ser298Phe Single submitter ⚠
p.Ser317Tyr Single submitter ⚠
p.Ser338Gly Single submitter ⚠
p.Ser349Gly Single submitter ⚠
p.Ser353Arg Single submitter ⚠
p.Ser359Asn Single submitter ⚠
p.Ser593Phe Single submitter ⚠
p.Ser611Asn Single submitter ⚠
p.Ser820Arg Single submitter ⚠
p.Ser882Phe Single submitter ⚠
p.Ser996Phe Single submitter ⚠
p.Thr1091Lys Single submitter ⚠
p.Thr209Ile Single submitter ⚠
p.Trp655Cys Single submitter ⚠
p.Tyr1087His Single submitter ⚠
p.Tyr807His Single submitter ⚠
p.Val1075Ile Single submitter ⚠
p.Val120Leu Single submitter ⚠
p.Val172Met Single submitter ⚠
p.Val559Gly Single submitter ⚠
p.Val608Ile Single submitter ⚠
p.Val734Met Single submitter ⚠
p.Val763Ile Single submitter ⚠
p.Val763Leu Single submitter ⚠
p.Val778Ile Single submitter ⚠
p.Val786Glu Single submitter ⚠
p.Val872Ala Single submitter ⚠
p.Val872Gly Single submitter ⚠
p.Val872Ile Single submitter ⚠
p.Val931Ile Single submitter ⚠
p.Val934Leu Single submitter ⚠