ARHGEF7 — 95 ClinVar variants

All ClinVar germline ARHGEF7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

1 Conflicting · 11 Benign · 7 Likely benign · 76 Uncertain significance

Full ARHGEF7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 78

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ARHGEF7 p.Glu197Asp Conflicting Single submitter

Predictors lean, ClinVar uncertain 46

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

Predictors split 31

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

All ARHGEF7 variants

Conflicting classifications of pathogenicity 1

p.Glu197Asp Single submitter ⚠

Benign 11

p.Asp726= Multiple submitters
p.Leu354= Multiple submitters
p.Leu487= Multiple submitters
p.Pro592= Multiple submitters
p.Ala637= Single submitter
p.Arg635= Single submitter
p.Phe677= Single submitter
p.Pro636= Single submitter
p.Ser223= Single submitter
p.Thr342= Single submitter
p.Thr556= Single submitter

Likely benign 7

c.252+5092T>G Single submitter
p.Ala593Val Single submitter
p.Gly29Ser Single submitter
p.Leu14= Single submitter
p.Leu308= Single submitter
p.Ser155Cys Single submitter ⚠
p.Val325= Single submitter

Uncertain significance 76

p.Ala123Val Single submitter ⚠
p.Ala418Ser Single submitter ⚠
p.Ala425Thr Single submitter ⚠
p.Ala444Asp Single submitter ⚠
p.Ala598Ser Single submitter ⚠
p.Ala598Thr Single submitter ⚠
p.Arg124Gly Single submitter ⚠
p.Arg144Trp Single submitter ⚠
p.Arg154Trp Single submitter ⚠
p.Arg194His Single submitter ⚠
p.Arg218Cys Single submitter ⚠
p.Arg534Gln Single submitter ⚠
p.Arg737His Single submitter ⚠
p.Asn447Lys Single submitter ⚠
p.Asn540Ser Single submitter ⚠
p.Asp160Asn Single submitter ⚠
p.Asp754Glu Single submitter ⚠
p.Asp87Ala Single submitter ⚠
p.Cys315Arg Single submitter ⚠
p.Cys469Ser Single submitter ⚠
p.Gln6His Single submitter ⚠
p.Glu219Asp Single submitter ⚠
p.Glu526Gln Single submitter ⚠
p.Glu63Gln Single submitter ⚠
p.Glu65Lys Single submitter ⚠
p.Gly369Ala Single submitter ⚠
p.His604Pro Single submitter ⚠
p.Ile535Met Single submitter ⚠
p.Leu136Phe Single submitter ⚠
p.Leu166Arg Single submitter ⚠
p.Leu308Phe Single submitter ⚠
p.Leu35Pro Single submitter ⚠
p.Leu481Val Single submitter ⚠
p.Leu49Arg Single submitter ⚠
p.Leu735Val Single submitter ⚠
p.Lys230Glu Single submitter ⚠
p.Lys557Arg Single submitter ⚠
p.Met336Val Single submitter ⚠
p.Met403Leu Single submitter ⚠
p.Met462Leu Single submitter ⚠
p.Met531Val Single submitter ⚠
p.Met766Thr Single submitter ⚠
p.Pro226Ala Single submitter ⚠
p.Pro583Ala Single submitter ⚠
p.Pro594Leu Single submitter ⚠
p.Pro594Ser Single submitter ⚠
p.Pro60Ala Single submitter ⚠
p.Pro611Leu Single submitter ⚠
p.Ser185Leu Single submitter ⚠
p.Ser266Phe Single submitter ⚠
p.Ser358Gly Single submitter ⚠
p.Ser372Ile Single submitter ⚠
p.Ser372Thr Single submitter ⚠
p.Ser491Pro Single submitter ⚠
p.Ser560Cys Single submitter ⚠
p.Ser573Pro Single submitter ⚠
p.Ser62Gly Single submitter ⚠
p.Ser64Ile Single submitter ⚠
p.Ser750Leu Single submitter ⚠
p.Ser753Phe Single submitter ⚠
p.Ser768Cys Single submitter ⚠
p.Thr106Ala Single submitter ⚠
p.Thr243Met Single submitter ⚠
p.Thr275Ala Single submitter ⚠
p.Thr275Met Single submitter ⚠
p.Thr342Met Single submitter ⚠
p.Thr394Ala Single submitter ⚠
p.Thr442Met Single submitter ⚠
p.Thr556Met Single submitter ⚠
p.Thr559Ala Single submitter ⚠
p.Thr85Met Single submitter ⚠
p.Trp759Arg Single submitter ⚠
p.Tyr92Cys Single submitter ⚠
p.Val227Ala Single submitter ⚠
p.Val377Met Single submitter ⚠
p.Val581Leu Single submitter ⚠