ARHGEF4 — 127 ClinVar variants
All ClinVar germline ARHGEF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
8 Benign · 17 Likely benign · 102 Uncertain significance
Full ARHGEF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGEF4 p.Ala1211Ser Uncertain significance Single submitter
- ARHGEF4 p.Ala1224Ser Uncertain significance Single submitter
- ARHGEF4 p.Ala1237Ser Uncertain significance Single submitter
- ARHGEF4 p.Ala1423Thr Uncertain significance Single submitter
- ARHGEF4 p.Ala1431Ser Uncertain significance Single submitter
- ARHGEF4 p.Ala1431Thr Uncertain significance Single submitter
- ARHGEF4 p.Ala1448Val Uncertain significance Single submitter
- ARHGEF4 p.Ala1461Val Uncertain significance Single submitter
- ARHGEF4 p.Ala1463Val Uncertain significance Single submitter
- ARHGEF4 p.Ala1640Thr Uncertain significance Single submitter
- ARHGEF4 p.Arg1247Cys Uncertain significance Single submitter
- ARHGEF4 p.Arg1656Trp Uncertain significance Single submitter
- ARHGEF4 p.Arg1694Gln Uncertain significance Single submitter
- ARHGEF4 p.Arg1723His Uncertain significance Single submitter
- ARHGEF4 p.Arg1724Cys Uncertain significance Single submitter
- ARHGEF4 p.Arg1763His Uncertain significance Single submitter
- ARHGEF4 p.Arg1830Trp Uncertain significance Single submitter
- ARHGEF4 p.Arg1858Gly Uncertain significance Single submitter
- ARHGEF4 p.Arg1875Cys Uncertain significance Single submitter
- ARHGEF4 p.Asn1300Ser Uncertain significance Single submitter
- ARHGEF4 p.Asp1396Asn Uncertain significance Single submitter
- ARHGEF4 p.Asp1424Asn Uncertain significance Single submitter
- ARHGEF4 p.Asp1445Asn Uncertain significance Single submitter
- ARHGEF4 p.Asp1447His Uncertain significance Single submitter
- ARHGEF4 p.Gln1464His Uncertain significance Single submitter
- ARHGEF4 p.Gln1535Leu Uncertain significance Single submitter
- ARHGEF4 p.Gln1559His Uncertain significance Single submitter
- ARHGEF4 p.Gln1781His Uncertain significance Single submitter
- ARHGEF4 p.Glu1190Lys Uncertain significance Single submitter
- ARHGEF4 p.Glu1258Lys Uncertain significance Single submitter
- ARHGEF4 p.Glu1343Asp Uncertain significance Single submitter
- ARHGEF4 p.Glu1416Asp Uncertain significance Single submitter
- ARHGEF4 p.Glu1457Ala Uncertain significance Single submitter
- ARHGEF4 p.Glu1540Asp Uncertain significance Single submitter
- ARHGEF4 p.Glu1563Gly Uncertain significance Single submitter
- ARHGEF4 p.Glu1792Lys Uncertain significance Single submitter
- ARHGEF4 p.Glu1799Gly Uncertain significance Single submitter
- ARHGEF4 p.Gly1243Asp Uncertain significance Single submitter
- ARHGEF4 p.Gly1315Arg Uncertain significance Single submitter
- ARHGEF4 p.Gly1327Ala Uncertain significance Single submitter
- ARHGEF4 p.Gly1366Ala Uncertain significance Single submitter
- ARHGEF4 p.Gly1455Arg Uncertain significance Single submitter
- ARHGEF4 p.Gly1455Glu Uncertain significance Single submitter
- ARHGEF4 p.Gly1459Cys Uncertain significance Single submitter
- ARHGEF4 p.His1207Arg Uncertain significance Single submitter
- ARHGEF4 p.His1270Asn Uncertain significance Single submitter
- ARHGEF4 p.His1628Gln Uncertain significance Single submitter
- ARHGEF4 p.Ile1277Thr Uncertain significance Single submitter
- ARHGEF4 p.Ile1515Asn Uncertain significance Single submitter
- ARHGEF4 p.Ile1868Val Uncertain significance Single submitter
- ARHGEF4 p.Leu1479Ile Uncertain significance Single submitter
- ARHGEF4 p.Leu1680Ser Uncertain significance Single submitter
- ARHGEF4 p.Leu1784Ile Uncertain significance Single submitter
- ARHGEF4 p.Lys1282Gln Uncertain significance Single submitter
- ARHGEF4 p.Lys1785Thr Uncertain significance Single submitter
- ARHGEF4 p.Met1208Leu Uncertain significance Single submitter
- ARHGEF4 p.Met1330Val Uncertain significance Single submitter
- ARHGEF4 p.Met1735Leu Uncertain significance Single submitter
- ARHGEF4 p.Phe1710Ser Uncertain significance Single submitter
- ARHGEF4 p.Pro1241Leu Uncertain significance Single submitter
- ARHGEF4 p.Pro1331Thr Uncertain significance Single submitter
- ARHGEF4 p.Pro1617Ser Uncertain significance Single submitter
- ARHGEF4 p.Pro1831Leu Uncertain significance Single submitter
- ARHGEF4 p.Pro1840Ser Uncertain significance Single submitter
- ARHGEF4 p.Ser1248Leu Uncertain significance Single submitter
- ARHGEF4 p.Ser1305Arg Uncertain significance Single submitter
- ARHGEF4 p.Ser1689Leu Uncertain significance Single submitter
- ARHGEF4 p.Ser1844Cys Uncertain significance Single submitter
- ARHGEF4 p.Ser1862Phe Uncertain significance Single submitter
- ARHGEF4 p.Thr1314Ala Uncertain significance Single submitter
- ARHGEF4 p.Thr1325Lys Uncertain significance Single submitter
- ARHGEF4 p.Thr1328Ser Uncertain significance Single submitter
- ARHGEF4 p.Thr1835Met Uncertain significance Single submitter
- ARHGEF4 p.Trp1189Leu Uncertain significance Single submitter
- ARHGEF4 p.Tyr1361Asp Uncertain significance Single submitter
- ARHGEF4 p.Tyr1716Asn Uncertain significance Single submitter
- ARHGEF4 p.Val1392Ile Uncertain significance Single submitter
- ARHGEF4 p.Val1474Leu Uncertain significance Single submitter
- ARHGEF4 p.Val1585Met Uncertain significance Single submitter
- ARHGEF4 p.Val1726Leu Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ARHGEF4 p.Ala1640Ser Uncertain significance Single submitter
- ARHGEF4 p.Ala1700Pro Uncertain significance Single submitter
- ARHGEF4 p.Arg1524Cys Uncertain significance Single submitter
- ARHGEF4 p.Arg1760Trp Uncertain significance Single submitter
- ARHGEF4 p.Arg1875Pro Uncertain significance Single submitter
- ARHGEF4 p.Asp1725Asn Uncertain significance Single submitter
- ARHGEF4 p.Glu1347Lys Uncertain significance Single submitter
- ARHGEF4 p.Glu1426Lys Uncertain significance Single submitter
- ARHGEF4 p.Glu1540Lys Uncertain significance Single submitter
- ARHGEF4 p.Gly1737Arg Uncertain significance Single submitter
- ARHGEF4 p.Gly1737Ser Uncertain significance Single submitter
- ARHGEF4 p.Gly1737Val Uncertain significance Single submitter
- ARHGEF4 p.Leu1650Phe Uncertain significance Single submitter
- ARHGEF4 p.Leu1692Met Uncertain significance Single submitter
- ARHGEF4 p.Met1706Ile Uncertain significance Single submitter
- ARHGEF4 p.Pro1698Leu Uncertain significance Single submitter
- ARHGEF4 p.Tyr1351Cys Uncertain significance Single submitter
-
ARHGEF4 p.Pro1873Ser
Benign
No assertion criteria
ARHGEF4-related disorder
All ARHGEF4 variants
Benign 8
- p.Glu1416= Multiple submitters
- p.Trp1321Cys Multiple submitters
- c.5025+8C>T Single submitter
- p.Ala1205= No assertion criteria ARHGEF4-related disorder
- p.Arg1830Gln No assertion criteria ARHGEF4-related disorder
- p.Pro1777= No assertion criteria ARHGEF4-related disorder
- p.Pro1873Ser No assertion criteria ARHGEF4-related disorder ⚠
- p.Val1271Ile No assertion criteria ARHGEF4-related disorder
Likely benign 17
- c.3986-16085C>T Single submitter
- p.Ala1765Thr Single submitter
- p.Ala630Thr Single submitter
- p.Arg1234His Single submitter
- p.Arg1763Cys Single submitter
- p.Gly1455= Single submitter
- p.Gly812Glu Single submitter
- p.Met1208Thr Single submitter
- p.Val1250Ile Single submitter
- c.3985+9C>T No assertion criteria ARHGEF4-related disorder
- c.5479+15G>C No assertion criteria ARHGEF4-related disorder
- c.5479+6C>T No assertion criteria ARHGEF4-related disorder
- p.Ala1329Thr No assertion criteria ARHGEF4-related disorder
- p.Arg1836Cys No assertion criteria ARHGEF4-related disorder
- p.His1270= No assertion criteria ARHGEF4-related disorder
- p.Phe1537= No assertion criteria ARHGEF4-related disorder
- p.Val1474= No assertion criteria ARHGEF4-related disorder
Uncertain significance 102
- p.Ala1211Ser Single submitter ⚠
- p.Ala1224Ser Single submitter ⚠
- p.Ala1237Ser Single submitter ⚠
- p.Ala1423Thr Single submitter ⚠
- p.Ala1431Ser Single submitter ⚠
- p.Ala1431Thr Single submitter ⚠
- p.Ala1448Val Single submitter ⚠
- p.Ala1461Val Single submitter ⚠
- p.Ala1463Val Single submitter ⚠
- p.Ala1640Ser Single submitter ⚠
- p.Ala1640Thr Single submitter ⚠
- p.Ala1700Pro Single submitter ⚠
- p.Arg1247Cys Single submitter ⚠
- p.Arg1524Cys Single submitter ⚠
- p.Arg1654Gln Single submitter
- p.Arg1656Trp Single submitter ⚠
- p.Arg1694Gln Single submitter ⚠
- p.Arg1723His Single submitter ⚠
- p.Arg1724Cys Single submitter ⚠
- p.Arg1760Trp Single submitter ⚠
- p.Arg1763His Single submitter ⚠
- p.Arg1830Trp Single submitter ⚠
- p.Arg1858Gly Single submitter ⚠
- p.Arg1875Cys Single submitter ⚠
- p.Arg1875Pro Single submitter ⚠
- p.Asn1300Ser Single submitter ⚠
- p.Asp1396Asn Single submitter ⚠
- p.Asp1424Asn Single submitter ⚠
- p.Asp1445Asn Single submitter ⚠
- p.Asp1447His Single submitter ⚠
- p.Asp1725Asn Single submitter ⚠
- p.Gln1464His Single submitter ⚠
- p.Gln1469His Single submitter
- p.Gln1535Leu Single submitter ⚠
- p.Gln1559His Single submitter ⚠
- p.Gln1781His Single submitter ⚠
- p.Glu1190Lys Single submitter ⚠
- p.Glu1258Lys Single submitter ⚠
- p.Glu1343Asp Single submitter ⚠
- p.Glu1347Lys Single submitter ⚠
- p.Glu1416Asp Single submitter ⚠
- p.Glu1426Lys Single submitter ⚠
- p.Glu1457Ala Single submitter ⚠
- p.Glu1540Asp Single submitter ⚠
- p.Glu1540Lys Single submitter ⚠
- p.Glu1563Gly Single submitter ⚠
- p.Glu1792Lys Single submitter ⚠
- p.Glu1799Gly Single submitter ⚠
- p.Gly1243Asp Single submitter ⚠
- p.Gly1315Arg Single submitter ⚠
- p.Gly1327Ala Single submitter ⚠
- p.Gly1366Ala Single submitter ⚠
- p.Gly1455Arg Single submitter ⚠
- p.Gly1455Glu Single submitter ⚠
- p.Gly1459Cys Single submitter ⚠
- p.Gly1737Arg Single submitter ⚠
- p.Gly1737Ser Single submitter ⚠
- p.Gly1737Val Single submitter ⚠
- p.His1207Arg Single submitter ⚠
- p.His1270Asn Single submitter ⚠
- p.His1628Gln Single submitter ⚠
- p.Ile1277Thr Single submitter ⚠
- p.Ile1515Asn Single submitter ⚠
- p.Ile1651Val Single submitter
- p.Ile1868Val Single submitter ⚠
- p.Leu1376Val Single submitter
- p.Leu1479Ile Single submitter ⚠
- p.Leu1650Phe Single submitter ⚠
- p.Leu1680Ser Single submitter ⚠
- p.Leu1692Met Single submitter ⚠
- p.Leu1784Ile Single submitter ⚠
- p.Lys1282Gln Single submitter ⚠
- p.Lys1785Thr Single submitter ⚠
- p.Met1208Leu Single submitter ⚠
- p.Met1330Val Single submitter ⚠
- p.Met1706Ile Single submitter ⚠
- p.Met1735Leu Single submitter ⚠
- p.Phe1710Ser Single submitter ⚠
- p.Pro1241Leu Single submitter ⚠
- p.Pro1331Thr Single submitter ⚠
- p.Pro1617Ser Single submitter ⚠
- p.Pro1698Leu Single submitter ⚠
- p.Pro1831Leu Single submitter ⚠
- p.Pro1840Ser Single submitter ⚠
- p.Ser1248Leu Single submitter ⚠
- p.Ser1305Arg Single submitter ⚠
- p.Ser1689Leu Single submitter ⚠
- p.Ser1844Cys Single submitter ⚠
- p.Ser1862Phe Single submitter ⚠
- p.Thr1314Ala Single submitter ⚠
- p.Thr1325Lys Single submitter ⚠
- p.Thr1328Ser Single submitter ⚠
- p.Thr1835Met Single submitter ⚠
- p.Trp1189Leu Single submitter ⚠
- p.Tyr1351Cys Single submitter ⚠
- p.Tyr1361Asp Single submitter ⚠
- p.Tyr1716Asn Single submitter ⚠
- p.Val1392Ile Single submitter ⚠
- p.Val1434Ile Single submitter
- p.Val1474Leu Single submitter ⚠
- p.Val1585Met Single submitter ⚠
- p.Val1726Leu Single submitter ⚠