ARHGAP5 — 163 ClinVar variants
All ClinVar germline ARHGAP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 6 Benign · 1 Likely benign · 154 Uncertain significance
Full ARHGAP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 147
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 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGAP5 p.Ala1064Val Uncertain significance Single submitter
- ARHGAP5 p.Ala1092Val Uncertain significance Single submitter
- ARHGAP5 p.Ala1339Thr Uncertain significance Single submitter
- ARHGAP5 p.Ala214Val Uncertain significance Single submitter
- ARHGAP5 p.Ala241Val Uncertain significance Single submitter
- ARHGAP5 p.Ala372Val Uncertain significance Single submitter
- ARHGAP5 p.Ala573Gly Uncertain significance Single submitter
- ARHGAP5 p.Ala652Thr Uncertain significance Single submitter
- ARHGAP5 p.Ala807Thr Uncertain significance Single submitter
- ARHGAP5 p.Arg1007His Uncertain significance Single submitter
- ARHGAP5 p.Arg1032His Uncertain significance Single submitter
- ARHGAP5 p.Arg1076Gln Uncertain significance Single submitter
- ARHGAP5 p.Arg1118Cys Uncertain significance Single submitter
- ARHGAP5 p.Arg1118Gly Uncertain significance Single submitter
- ARHGAP5 p.Arg1148Gln Uncertain significance Single submitter
- ARHGAP5 p.Arg1170Gly Uncertain significance Single submitter
- ARHGAP5 p.Arg230Gln Uncertain significance Single submitter
- ARHGAP5 p.Arg477Lys Uncertain significance Single submitter
- ARHGAP5 p.Arg583Cys Uncertain significance Single submitter
- ARHGAP5 p.Arg635Gln Uncertain significance Single submitter
- ARHGAP5 p.Arg859Trp Uncertain significance Single submitter
- ARHGAP5 p.Arg970Gly Uncertain significance Single submitter
- ARHGAP5 p.Asn1026Tyr Uncertain significance Single submitter
- ARHGAP5 p.Asn1050Asp Uncertain significance Single submitter
- ARHGAP5 p.Asn1248Ser Uncertain significance Single submitter
- ARHGAP5 p.Asn155Ser Uncertain significance Single submitter
- ARHGAP5 p.Asn170Ser Uncertain significance Single submitter
- ARHGAP5 p.Asn416Asp Uncertain significance Single submitter
- ARHGAP5 p.Asn702Asp Uncertain significance Single submitter
- ARHGAP5 p.Asn813Ser Uncertain significance Single submitter
- ARHGAP5 p.Asp1084Ala Uncertain significance Single submitter
- ARHGAP5 p.Asp1084Val Uncertain significance Single submitter
- ARHGAP5 p.Asp1114Asn Uncertain significance Single submitter
- ARHGAP5 p.Asp1132Gly Uncertain significance Single submitter
- ARHGAP5 p.Asp793Glu Uncertain significance Single submitter
- ARHGAP5 p.Asp801Gly Uncertain significance Single submitter
- ARHGAP5 p.Asp845Glu Uncertain significance Single submitter
- ARHGAP5 p.Asp963His Uncertain significance Single submitter
- ARHGAP5 p.Cys377Arg Uncertain significance Single submitter
- ARHGAP5 p.Gln561His Uncertain significance Single submitter
- ARHGAP5 p.Gln830Glu Uncertain significance Single submitter
- ARHGAP5 p.Glu1372Gly Uncertain significance Single submitter
- ARHGAP5 p.Glu48Asp Uncertain significance Single submitter
- ARHGAP5 p.Glu940Gln Uncertain significance Single submitter
- ARHGAP5 p.His1030Arg Uncertain significance Single submitter
- ARHGAP5 p.His358Arg Uncertain significance Single submitter
- ARHGAP5 p.His358Asp Uncertain significance Single submitter
- ARHGAP5 p.His581Arg Uncertain significance Single submitter
- ARHGAP5 p.His581Tyr Uncertain significance Single submitter
- ARHGAP5 p.His759Gln Uncertain significance Single submitter
- ARHGAP5 p.Ile1095Thr Uncertain significance Single submitter
- ARHGAP5 p.Ile1501Val Uncertain significance Single submitter
- ARHGAP5 p.Ile163Thr Uncertain significance Single submitter
- ARHGAP5 p.Ile331Thr Uncertain significance Single submitter
- ARHGAP5 p.Ile395Met Uncertain significance Single submitter
- ARHGAP5 p.Ile678Leu Uncertain significance Single submitter
- ARHGAP5 p.Ile678Met Uncertain significance Single submitter
- ARHGAP5 p.Ile678Val Uncertain significance Single submitter
- ARHGAP5 p.Ile685Met Uncertain significance Single submitter
- ARHGAP5 p.Ile746Leu Uncertain significance Single submitter
- ARHGAP5 p.Ile833Val Uncertain significance Single submitter
- ARHGAP5 p.Ile840Val Uncertain significance Single submitter
- ARHGAP5 p.Ile852Val Uncertain significance Single submitter
- ARHGAP5 p.Ile897Val Uncertain significance Single submitter
- ARHGAP5 p.Leu1276Val Uncertain significance Single submitter
- ARHGAP5 p.Leu160Val Uncertain significance Single submitter
- ARHGAP5 p.Leu754Phe Uncertain significance Single submitter
- ARHGAP5 p.Lys1072Arg Uncertain significance Single submitter
- ARHGAP5 p.Lys1072Glu Uncertain significance Single submitter
- ARHGAP5 p.Lys1154Arg Uncertain significance Single submitter
- ARHGAP5 p.Lys640Asn Uncertain significance Single submitter
- ARHGAP5 p.Lys844Arg Uncertain significance Single submitter
- ARHGAP5 p.Met1085Thr Uncertain significance Single submitter
- ARHGAP5 p.Met368Val Uncertain significance Single submitter
- ARHGAP5 p.Met454Ile Uncertain significance Single submitter
- ARHGAP5 p.Met944Val Uncertain significance Single submitter
- ARHGAP5 p.Phe674Cys Uncertain significance Single submitter
- ARHGAP5 p.Phe934Leu Uncertain significance Single submitter
- ARHGAP5 p.Pro1250Ala Uncertain significance Single submitter
- ARHGAP5 p.Pro1466Arg Uncertain significance Single submitter
- ARHGAP5 p.Pro712Ala Uncertain significance Single submitter
- ARHGAP5 p.Pro728Leu Uncertain significance Single submitter
- ARHGAP5 p.Pro967Ser Uncertain significance Single submitter
- ARHGAP5 p.Pro988Ala Uncertain significance Single submitter
- ARHGAP5 p.Ser1008Cys Uncertain significance Single submitter
- ARHGAP5 p.Ser1349Cys Uncertain significance Single submitter
- ARHGAP5 p.Ser188Pro Uncertain significance Single submitter
- ARHGAP5 p.Ser574Gly Uncertain significance Single submitter
- ARHGAP5 p.Ser641Leu Uncertain significance Single submitter
- ARHGAP5 p.Ser683Phe Uncertain significance Single submitter
- ARHGAP5 p.Ser706Tyr Uncertain significance Single submitter
- ARHGAP5 p.Ser774Ala Uncertain significance Single submitter
- ARHGAP5 p.Ser774Pro Uncertain significance Single submitter
- ARHGAP5 p.Ser871Ala Uncertain significance Single submitter
- ARHGAP5 p.Ser936Asn Uncertain significance Single submitter
- ARHGAP5 p.Ser948Thr Uncertain significance Single submitter
- ARHGAP5 p.Thr1003Ala Uncertain significance Single submitter
- ARHGAP5 p.Thr1097Arg Uncertain significance Single submitter
- ARHGAP5 p.Thr1097Ile Uncertain significance Single submitter
- ARHGAP5 p.Thr1186Arg Uncertain significance Single submitter
- ARHGAP5 p.Thr1206Ala Uncertain significance Single submitter
- ARHGAP5 p.Thr1231Ala Uncertain significance Single submitter
- ARHGAP5 p.Thr1430Ala Uncertain significance Single submitter
- ARHGAP5 p.Thr1457Met Uncertain significance Single submitter
- ARHGAP5 p.Thr318Arg Uncertain significance Single submitter
- ARHGAP5 p.Thr697Ala Uncertain significance Single submitter
- ARHGAP5 p.Tyr1010Cys Uncertain significance Single submitter
- ARHGAP5 p.Tyr1109Phe Uncertain significance Single submitter
- ARHGAP5 p.Tyr1167Cys Uncertain significance Single submitter
- ARHGAP5 p.Tyr1168Cys Uncertain significance Single submitter
- ARHGAP5 p.Tyr286His Uncertain significance Single submitter
- ARHGAP5 p.Tyr50His Uncertain significance Single submitter
- ARHGAP5 p.Tyr737Cys Uncertain significance Single submitter
- ARHGAP5 p.Tyr975Cys Uncertain significance Single submitter
- ARHGAP5 p.Val1438Leu Uncertain significance Single submitter
- ARHGAP5 p.Val1477Gly Uncertain significance Single submitter
- ARHGAP5 p.Val156Ile Uncertain significance Single submitter
- ARHGAP5 p.Val194Ile Uncertain significance Single submitter
- ARHGAP5 p.Val474Ile Uncertain significance Single submitter
- ARHGAP5 p.Val483Ile Uncertain significance Single submitter
- ARHGAP5 p.Val873Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- ARHGAP5 p.Arg1193Cys Uncertain significance Multiple submitters
- ARHGAP5 p.Arg1253Gly Uncertain significance Single submitter
- ARHGAP5 p.Arg250His Uncertain significance Single submitter
- ARHGAP5 p.Arg427Met Uncertain significance Single submitter
- ARHGAP5 p.Arg739Cys Uncertain significance Single submitter
- ARHGAP5 p.Arg926Trp Uncertain significance Single submitter
- ARHGAP5 p.His1399Arg Uncertain significance Single submitter
- ARHGAP5 p.Ile795Phe Uncertain significance Single submitter
- ARHGAP5 p.Leu1264Val Uncertain significance Single submitter
- ARHGAP5 p.Leu20Phe Uncertain significance Single submitter
-
ARHGAP5 p.Leu37Val
Uncertain significance
Single submitter
ARHGAP5-related disorder
- ARHGAP5 p.Lys172Thr Uncertain significance Single submitter
- ARHGAP5 p.Lys275Asn Uncertain significance Single submitter
- ARHGAP5 p.Lys291Glu Uncertain significance Single submitter
- ARHGAP5 p.Lys709Asn Uncertain significance Single submitter
- ARHGAP5 p.Met149Ile Uncertain significance Single submitter
- ARHGAP5 p.Met785Thr Uncertain significance Single submitter
- ARHGAP5 p.Met863Ile Uncertain significance Single submitter
- ARHGAP5 p.Phe599Leu Uncertain significance Single submitter
- ARHGAP5 p.Pro1344Ala Uncertain significance Single submitter
- ARHGAP5 p.Ser1184Cys Uncertain significance Single submitter
- ARHGAP5 p.Ser16Gly Uncertain significance Single submitter
- ARHGAP5 p.Val1327Ala Uncertain significance Single submitter
- ARHGAP5 p.Val730Ala Uncertain significance Single submitter
- ARHGAP5 p.Val882Leu Uncertain significance Single submitter
-
ARHGAP5 p.Val474Ala
Pathogenic
No assertion criteria
Pulmonary artery atresia
All ARHGAP5 variants
Pathogenic 1
- p.Val474Ala No assertion criteria Pulmonary artery atresia ⚠
Likely pathogenic 1
- p.Phe790fs Single submitter Martsolf syndrome 1
Benign 6
Likely benign 1
- p.Pro1361Leu Single submitter
Uncertain significance 154
- p.Arg1193Cys Multiple submitters ⚠
- p.Ala1064Val Single submitter ⚠
- p.Ala1092Val Single submitter ⚠
- p.Ala1339Thr Single submitter ⚠
- p.Ala214Val Single submitter ⚠
- p.Ala229fs Single submitter ARHGAP5-related disorder
- p.Ala241Val Single submitter ⚠
- p.Ala372Val Single submitter ⚠
- p.Ala573Gly Single submitter ⚠
- p.Ala652Thr Single submitter ⚠
- p.Ala807Thr Single submitter ⚠
- p.Arg1007His Single submitter ⚠
- p.Arg1032His Single submitter ⚠
- p.Arg1076Gln Single submitter ⚠
- p.Arg1118Cys Single submitter ⚠
- p.Arg1118Gly Single submitter ⚠
- p.Arg1122Ter Single submitter
- p.Arg1148Gln Single submitter ⚠
- p.Arg1170Gly Single submitter ⚠
- p.Arg1253Gly Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg250His Single submitter ⚠
- p.Arg427Met Single submitter ⚠
- p.Arg477Lys Single submitter ⚠
- p.Arg583Cys Single submitter ⚠
- p.Arg635Gln Single submitter ⚠
- p.Arg739Cys Single submitter ⚠
- p.Arg859Trp Single submitter ⚠
- p.Arg926Trp Single submitter ⚠
- p.Arg970Gly Single submitter ⚠
- p.Asn1026Tyr Single submitter ⚠
- p.Asn1050Asp Single submitter ⚠
- p.Asn1248Ser Single submitter ⚠
- p.Asn155Ser Single submitter ⚠
- p.Asn170Ser Single submitter ⚠
- p.Asn416Asp Single submitter ⚠
- p.Asn702Asp Single submitter ⚠
- p.Asn813Ser Single submitter ⚠
- p.Asp1084Ala Single submitter ⚠
- p.Asp1084Val Single submitter ⚠
- p.Asp1114Asn Single submitter ⚠
- p.Asp1132Gly Single submitter ⚠
- p.Asp793Glu Single submitter ⚠
- p.Asp801Gly Single submitter ⚠
- p.Asp845Glu Single submitter ⚠
- p.Asp963His Single submitter ⚠
- p.Cys377Arg Single submitter ⚠
- p.Gln561His Single submitter ⚠
- p.Gln719Arg Single submitter
- p.Gln830Glu Single submitter ⚠
- p.Glu1372Gly Single submitter ⚠
- p.Glu424Lys Single submitter
- p.Glu48Asp Single submitter ⚠
- p.Glu940Gln Single submitter ⚠
- p.Gly1190fs Single submitter
- p.His1030Arg Single submitter ⚠
- p.His1399Arg Single submitter ⚠
- p.His358Arg Single submitter ⚠
- p.His358Asp Single submitter ⚠
- p.His581Arg Single submitter ⚠
- p.His581Tyr Single submitter ⚠
- p.His759Gln Single submitter ⚠
- p.Ile1095Thr Single submitter ⚠
- p.Ile1501Val Single submitter ⚠
- p.Ile163Thr Single submitter ⚠
- p.Ile331Thr Single submitter ⚠
- p.Ile395Met Single submitter ⚠
- p.Ile678Leu Single submitter ⚠
- p.Ile678Met Single submitter ⚠
- p.Ile678Val Single submitter ⚠
- p.Ile685Met Single submitter ⚠
- p.Ile746Leu Single submitter ⚠
- p.Ile795Phe Single submitter ⚠
- p.Ile833Val Single submitter ⚠
- p.Ile840Val Single submitter ⚠
- p.Ile852Val Single submitter ⚠
- p.Ile897Val Single submitter ⚠
- p.Leu1264Val Single submitter ⚠
- p.Leu1276Val Single submitter ⚠
- p.Leu160Val Single submitter ⚠
- p.Leu20Phe Single submitter ⚠
- p.Leu37Val Single submitter ARHGAP5-related disorder ⚠
- p.Leu754Phe Single submitter ⚠
- p.Lys1072Arg Single submitter ⚠
- p.Lys1072Glu Single submitter ⚠
- p.Lys1154Arg Single submitter ⚠
- p.Lys172Thr Single submitter ⚠
- p.Lys275Asn Single submitter ⚠
- p.Lys291Glu Single submitter ⚠
- p.Lys640Asn Single submitter ⚠
- p.Lys709Asn Single submitter ⚠
- p.Lys844Arg Single submitter ⚠
- p.Met1085Thr Single submitter ⚠
- p.Met149Ile Single submitter ⚠
- p.Met368Val Single submitter ⚠
- p.Met454Ile Single submitter ⚠
- p.Met785Thr Single submitter ⚠
- p.Met863Ile Single submitter ⚠
- p.Met944Val Single submitter ⚠
- p.Phe599Leu Single submitter ⚠
- p.Phe674Cys Single submitter ⚠
- p.Phe934Leu Single submitter ⚠
- p.Pro1250Ala Single submitter ⚠
- p.Pro1344Ala Single submitter ⚠
- p.Pro1466Arg Single submitter ⚠
- p.Pro253Ser Single submitter
- p.Pro712Ala Single submitter ⚠
- p.Pro728Leu Single submitter ⚠
- p.Pro967Ser Single submitter ⚠
- p.Pro988Ala Single submitter ⚠
- p.Ser1008Cys Single submitter ⚠
- p.Ser1184Cys Single submitter ⚠
- p.Ser1349Cys Single submitter ⚠
- p.Ser16Gly Single submitter ⚠
- p.Ser188Pro Single submitter ⚠
- p.Ser574Gly Single submitter ⚠
- p.Ser641Leu Single submitter ⚠
- p.Ser683Phe Single submitter ⚠
- p.Ser706Tyr Single submitter ⚠
- p.Ser774Ala Single submitter ⚠
- p.Ser774Pro Single submitter ⚠
- p.Ser871Ala Single submitter ⚠
- p.Ser936Asn Single submitter ⚠
- p.Ser948Thr Single submitter ⚠
- p.Thr1003Ala Single submitter ⚠
- p.Thr1097Arg Single submitter ⚠
- p.Thr1097Ile Single submitter ⚠
- p.Thr1186Arg Single submitter ⚠
- p.Thr1206Ala Single submitter ⚠
- p.Thr1231Ala Single submitter ⚠
- p.Thr1430Ala Single submitter ⚠
- p.Thr1457Met Single submitter ⚠
- p.Thr318Arg Single submitter ⚠
- p.Thr697Ala Single submitter ⚠
- p.Thr96fs Single submitter
- p.Tyr1010Cys Single submitter ⚠
- p.Tyr1109Phe Single submitter ⚠
- p.Tyr1167Cys Single submitter ⚠
- p.Tyr1168Cys Single submitter ⚠
- p.Tyr286His Single submitter ⚠
- p.Tyr502fs Single submitter Martsolf syndrome 1
- p.Tyr50His Single submitter ⚠
- p.Tyr737Cys Single submitter ⚠
- p.Tyr975Cys Single submitter ⚠
- p.Val1327Ala Single submitter ⚠
- p.Val1438Leu Single submitter ⚠
- p.Val1477Gly Single submitter ⚠
- p.Val156Ile Single submitter ⚠
- p.Val194Ile Single submitter ⚠
- p.Val474Ile Single submitter ⚠
- p.Val483Ile Single submitter ⚠
- p.Val730Ala Single submitter ⚠
- p.Val873Ile Single submitter ⚠
- p.Val882Leu Single submitter ⚠