ARHGEF5 — 142 ClinVar variants

All ClinVar germline ARHGEF5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

1 Conflicting · 16 Likely benign · 125 Uncertain significance

Full ARHGEF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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.

ARHGEF5 p.Val502Leu Conflicting Single submitter

Predictors lean, ClinVar uncertain 104

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

Predictors split 15

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

All ARHGEF5 variants

Conflicting classifications of pathogenicity 1

p.Val502Leu Single submitter ⚠

Likely benign 16

p.Arg8delinsCysGlyGlyTer Single submitter
p.Asp302= Single submitter
p.Gln331Arg Single submitter
p.Gly368Val Single submitter
p.Gly385Asp Single submitter
p.Ile364= Single submitter
p.Pro1383= Single submitter
p.Pro1416= Single submitter
p.Pro782= Single submitter
p.Pro900= Single submitter
p.Pro943= Single submitter
p.Ser1286Arg Single submitter
p.Thr1484= Single submitter
p.Thr160Ile Single submitter
p.Thr910Ala Single submitter
p.Val1300Ile Single submitter

Uncertain significance 125

p.Ala1347Thr Single submitter ⚠
p.Ala1404Gly Single submitter ⚠
p.Ala376Ser Single submitter ⚠
p.Ala393Thr Single submitter ⚠
p.Ala779Thr Single submitter ⚠
p.Ala785Asp Single submitter ⚠
p.Ala964Val Single submitter ⚠
p.Arg1191Cys Single submitter ⚠
p.Arg1221Leu Single submitter ⚠
p.Arg1226Gln Single submitter ⚠
p.Arg1303Cys Single submitter ⚠
p.Arg1364Leu Single submitter ⚠
p.Arg1364Trp Single submitter ⚠
p.Arg1415Cys Single submitter ⚠
p.Arg1415Gly Single submitter ⚠
p.Arg1430Gln Single submitter
p.Arg1470Gln Single submitter ⚠
p.Arg1483Cys Single submitter ⚠
p.Arg1524Gln Single submitter ⚠
p.Arg241Trp Single submitter ⚠
p.Arg457Ser Single submitter ⚠
p.Arg51Thr Single submitter ⚠
p.Arg544Met Single submitter ⚠
p.Arg859Ser Single submitter ⚠
p.Arg895His Single submitter ⚠
p.Arg8Cys Single submitter ⚠
p.Arg904Gly Single submitter ⚠
p.Arg904Lys Single submitter ⚠
p.Asn1030Lys Single submitter ⚠
p.Asn1463Asp Single submitter ⚠
p.Asn1526Asp Single submitter ⚠
p.Asn194Asp Single submitter ⚠
p.Asn266Lys Single submitter ⚠
p.Asp281Gly Single submitter ⚠
p.Asp383Asn Single submitter ⚠
p.Asp383Gly Single submitter ⚠
p.Cys127Trp Single submitter ⚠
p.Gln115Glu Single submitter ⚠
p.Gln1471Pro Single submitter ⚠
p.Gln1541Lys Single submitter ⚠
p.Gln1595Arg Single submitter ⚠
p.Gln225His Single submitter ⚠
p.Gln235Glu Single submitter ⚠
p.Gln276Arg Single submitter ⚠
p.Glu1290Asp Single submitter ⚠
p.Glu1479Asp Single submitter ⚠
p.Glu1489Asp Single submitter ⚠
p.Glu1532Ala Single submitter ⚠
p.Glu200Lys Single submitter ⚠
p.Glu214Lys Single submitter ⚠
p.Glu243Lys Single submitter ⚠
p.Glu39Lys Single submitter ⚠
p.Glu442Gln Single submitter ⚠
p.Glu73Gly Single submitter ⚠
p.Glu81Gly Single submitter ⚠
p.Glu918Lys Single submitter ⚠
p.Gly178Val Single submitter ⚠
p.Gly202Glu Single submitter ⚠
p.Gly292Glu Single submitter ⚠
p.Gly303Ser Single submitter ⚠
p.Gly391Arg Single submitter ⚠
p.Gly424Val Single submitter ⚠
p.Gly82Val Single submitter ⚠
p.Gly868Arg Single submitter ⚠
p.His223Tyr Single submitter ⚠
p.His869Arg Single submitter ⚠
p.His959Leu Single submitter ⚠
p.Ile1494Ser Single submitter ⚠
p.Ile364Thr Single submitter ⚠
p.Ile364Val Single submitter ⚠
p.Ile456Met Single submitter ⚠
p.Ile456Val Single submitter ⚠
p.Ile463Val Single submitter ⚠
p.Ile827Val Single submitter ⚠
p.Ile844Met Single submitter ⚠
p.Leu1182Pro Single submitter ⚠
p.Leu143Pro Single submitter ⚠
p.Leu1464Pro Single submitter ⚠
p.Leu1553His Single submitter ⚠
p.Leu410Val Single submitter ⚠
p.Leu449Pro Single submitter ⚠
p.Leu56Pro Single submitter ⚠
p.Lys1589Arg Single submitter ⚠
p.Lys344Arg Single submitter ⚠
p.Lys477Arg Single submitter ⚠
p.Lys951Glu Single submitter ⚠
p.Met136Thr Single submitter ⚠
p.Met1538Lys Single submitter ⚠
p.Met283Lys Single submitter ⚠
p.Met283Thr Single submitter ⚠
p.Met429Ile Single submitter ⚠
p.Met928Val Single submitter ⚠
p.Phe1309Ser Single submitter ⚠
p.Phe1402Ser Single submitter
p.Phe1465Leu Single submitter ⚠
p.Pro108Ser Single submitter ⚠
p.Pro1383Leu Single submitter ⚠
p.Pro1523Ala Single submitter ⚠
p.Pro224Ser Single submitter ⚠
p.Pro475Ala Single submitter ⚠
p.Pro705Thr Single submitter ⚠
p.Pro79Leu Single submitter ⚠
p.Pro814Leu Single submitter
p.Pro817Arg Single submitter
p.Pro817Ser Single submitter
p.Pro841Ala Single submitter ⚠
p.Ser1512Cys Single submitter ⚠
p.Ser184Ala Single submitter ⚠
p.Ser340Cys Single submitter ⚠
p.Ser793Phe Single submitter ⚠
p.Ser892Ala Single submitter ⚠
p.Thr1331Arg Single submitter ⚠
p.Thr1342Met Single submitter ⚠
p.Thr157Ser Single submitter ⚠
p.Thr160Ser Single submitter ⚠
p.Thr172Asn Single submitter ⚠
p.Thr494Ala Single submitter ⚠
p.Trp1005Gly Single submitter ⚠
p.Tyr1370His Single submitter ⚠
p.Tyr809His Single submitter
p.Val1228Ile Single submitter ⚠
p.Val265Phe Single submitter ⚠
p.Val282Met Single submitter ⚠
p.Val355Gly Single submitter ⚠
p.Val86Met Single submitter ⚠