ARHGEF12 — 155 ClinVar variants

All ClinVar germline ARHGEF12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

4 Benign · 9 Likely benign · 142 Uncertain significance

Full ARHGEF12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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 94

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

Predictors split 47

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

All ARHGEF12 variants

Benign 4

c.924+7T>A Multiple submitters
p.Gly679= Multiple submitters
p.Pro231Ser Multiple submitters ⚠
p.Val777= Multiple submitters

Likely benign 9

p.Gln1279Pro Single submitter
p.Ile1467Val Single submitter
p.Ile166Thr Single submitter
p.Leu823= Single submitter
p.Lys135Arg Single submitter
p.Met666Val Single submitter
p.Pro1291= Single submitter
p.Tyr1232Asn Single submitter
p.Val1122= Single submitter

Uncertain significance 142

c.2614-7G>A Single submitter syndromic microphthalmia
p.Ala1249Thr Single submitter ⚠
p.Ala1305Thr Single submitter ⚠
p.Ala1387Thr Single submitter ⚠
p.Ala242Val Single submitter ⚠
p.Ala260Val Single submitter ⚠
p.Ala299Thr Single submitter ⚠
p.Ala399Glu Single submitter ⚠
p.Ala40Val Single submitter ⚠
p.Ala533Val Single submitter ⚠
p.Ala885Gly Single submitter ⚠
p.Arg1129Gln Single submitter ⚠
p.Arg1247Gln Single submitter ⚠
p.Arg1247Trp Single submitter ⚠
p.Arg1283Lys Single submitter ⚠
p.Arg1338Trp Single submitter ⚠
p.Arg1410Cys Single submitter ⚠
p.Arg1410His Single submitter ⚠
p.Arg1410Leu Single submitter ⚠
p.Arg219Gln Single submitter ⚠
p.Arg229Gln Single submitter ⚠
p.Arg301Trp Single submitter ⚠
p.Arg381Cys Single submitter ⚠
p.Arg381His Single submitter ⚠
p.Arg38Leu Single submitter ⚠
p.Arg462Cys Single submitter ⚠
p.Arg462His Single submitter ⚠
p.Arg484Trp Single submitter ⚠
p.Arg487Cys Single submitter ⚠
p.Arg487His Single submitter ⚠
p.Arg509Leu Single submitter ⚠
p.Arg705Cys Single submitter ⚠
p.Arg829Trp Single submitter ⚠
p.Arg855Gly Single submitter ⚠
p.Arg922Cys Single submitter ⚠
p.Asn1006Asp Single submitter ⚠
p.Asn1105Ser Single submitter ⚠
p.Asn972Tyr Single submitter ⚠
p.Asp1158Asn Single submitter ⚠
p.Asp1390Glu Single submitter ⚠
p.Asp158Gly Single submitter ⚠
p.Asp298Asn Single submitter ⚠
p.Asp355Val Single submitter ⚠
p.Asp408Glu Single submitter ⚠
p.Asp701Gly Single submitter ⚠
p.Asp862Asn Single submitter ⚠
p.Asp965Gly Single submitter ⚠
p.Cys1496Ser Single submitter ⚠
p.Cys784Tyr Single submitter ⚠
p.Gln1175Leu Single submitter ⚠
p.Gln1193Arg Single submitter ⚠
p.Gln1219Arg Single submitter ⚠
p.Gln1491His Single submitter ⚠
p.Gln485Arg Single submitter ⚠
p.Gln909His Single submitter ⚠
p.Glu1151Lys Single submitter ⚠
p.Glu1164Ala Single submitter ⚠
p.Glu1212Lys Single submitter ⚠
p.Glu1379Gln Single submitter ⚠
p.Glu216Lys Single submitter ⚠
p.Glu361Asp Single submitter ⚠
p.Glu497Asp Single submitter ⚠
p.Glu497Lys Single submitter ⚠
p.Glu587Asp Single submitter ⚠
p.Glu64Lys Single submitter ⚠
p.Glu723Gln Single submitter ⚠
p.Glu836Lys Single submitter ⚠
p.Gly1372Arg Single submitter ⚠
p.Gly183Val Single submitter ⚠
p.Gly697Arg Single submitter ⚠
p.Gly749Glu Single submitter ⚠
p.Gly780Glu Single submitter ⚠
p.Gly821Arg Single submitter ⚠
p.His1220Arg Single submitter ⚠
p.His1220Pro Single submitter ⚠
p.His1280Pro Single submitter ⚠
p.His1358Tyr Single submitter ⚠
p.His168Arg Single submitter ⚠
p.His20Gln Single submitter ⚠
p.His412Arg Single submitter ⚠
p.Ile1142Val Single submitter ⚠
p.Ile1236Asn Single submitter ⚠
p.Ile1490Met Single submitter ⚠
p.Ile166Val Single submitter ⚠
p.Ile172Val Single submitter ⚠
p.Ile23Val Single submitter ⚠
p.Ile843Thr Single submitter ⚠
p.Ile929Met Single submitter ⚠
p.Leu1174Trp Single submitter ⚠
p.Leu1174Val Single submitter ⚠
p.Leu1187Ser Single submitter ⚠
p.Leu1197Val Single submitter ⚠
p.Leu1263Met Single submitter ⚠
p.Leu1267Pro Single submitter ⚠
p.Leu1343Pro Single submitter ⚠
p.Leu1527Phe Single submitter ⚠
p.Leu289Val Single submitter ⚠
p.Leu621Pro Single submitter ⚠
p.Lys1073Arg Single submitter ⚠
p.Lys1226Gln Single submitter ⚠
p.Lys1539Met Single submitter ⚠
p.Lys1543Arg Single submitter ⚠
p.Lys211Gln Single submitter ⚠
p.Lys255Arg Single submitter ⚠
p.Lys416Arg Single submitter ⚠
p.Met1483fs Single submitter glaucoma
p.Met1504Thr Single submitter ⚠
p.Met489Val Single submitter ⚠
p.Pro1141Leu Single submitter ⚠
p.Pro302Leu Single submitter ⚠
p.Pro714Leu Single submitter ⚠
p.Pro892Ala Single submitter ⚠
p.Ser1147Leu Single submitter ⚠
p.Ser1288Cys Single submitter ⚠
p.Ser1334Thr Single submitter ⚠
p.Ser269Pro Single submitter ⚠
p.Ser279Asn Single submitter ⚠
p.Ser300Phe Single submitter ⚠
p.Ser309Gly Single submitter ⚠
p.Ser631Pro Single submitter ⚠
p.Ser635Thr Single submitter ⚠
p.Ser643Cys Single submitter ⚠
p.Thr1224Ala Single submitter ⚠
p.Thr267Ile Single submitter ⚠
p.Thr277Ala Single submitter ⚠
p.Thr329Ala Single submitter ⚠
p.Thr400Ala Single submitter ⚠
p.Thr685Ile Single submitter ⚠
p.Thr764Pro Single submitter ⚠
p.Thr7Ala Single submitter ⚠
p.Tyr1039Cys Single submitter ⚠
p.Tyr1415Cys Single submitter ⚠
p.Tyr1485Phe Single submitter ⚠
p.Tyr464Cys Single submitter ⚠
p.Val1027Ala Single submitter ⚠
p.Val1122Ile Single submitter ⚠
p.Val288Ile Single submitter ⚠
p.Val529Leu Single submitter ⚠
p.Val536Ala Single submitter ⚠
p.Val690Ile Single submitter ⚠
p.Val721Leu Single submitter ⚠
p.Val73Ile Single submitter ⚠