ARHGEF40 — 266 ClinVar variants

All ClinVar germline ARHGEF40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 242 flagged for review →

6 Benign · 1 Benign/Likely benign · 16 Likely benign · 243 Uncertain significance

Full ARHGEF40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 242

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 208

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 208

Predictors split 34

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

All ARHGEF40 variants

Benign 6

p.Ala288= Multiple submitters
p.Leu492= Multiple submitters
p.Lys293Glu Multiple submitters
p.Pro402Ser Multiple submitters
p.Thr1116= Multiple submitters
p.Thr1517= Multiple submitters

Benign/Likely benign 1

p.Arg823Gln Multiple submitters

Likely benign 16

p.Arg565Gln Single submitter
p.Arg983His Single submitter
p.Asn138Ser Single submitter
p.Asp667Glu Single submitter
p.Gln688Arg Single submitter
p.Glu453Lys Single submitter
p.Gly972Ser Single submitter
p.His1487Asn Single submitter
p.Ile1264Thr Single submitter
p.Met1194Thr Single submitter
p.Pro263Ser Single submitter
p.Ser1084= Single submitter
p.Thr567Met Single submitter
p.Thr633Ser Single submitter
p.Val134Leu Single submitter
p.Val520Ile Single submitter

Uncertain significance 243

p.Arg1417His Multiple submitters ⚠
p.Arg225Gln Multiple submitters ⚠
p.Ala1124Val Single submitter ⚠
p.Ala1235Thr Single submitter ⚠
p.Ala1258Val Single submitter ⚠
p.Ala1430Asp Single submitter ⚠
p.Ala1452Ser Single submitter ⚠
p.Ala169Thr Single submitter ⚠
p.Ala179Thr Single submitter ⚠
p.Ala179Val Single submitter ⚠
p.Ala221Val Single submitter ⚠
p.Ala277Thr Single submitter ⚠
p.Ala322Val Single submitter ⚠
p.Ala344Gly Single submitter ⚠
p.Ala385Thr Single submitter ⚠
p.Ala451Gly Single submitter ⚠
p.Ala603Val Single submitter ⚠
p.Ala904Pro Single submitter ⚠
p.Ala973Thr Single submitter ⚠
p.Ala973Val Single submitter ⚠
p.Ala978Gly Single submitter ⚠
p.Arg1001Gln Single submitter ⚠
p.Arg1033Thr Single submitter ⚠
p.Arg1038Gln Single submitter ⚠
p.Arg1055Gln Single submitter ⚠
p.Arg1076Gln Single submitter ⚠
p.Arg1076Trp Single submitter ⚠
p.Arg1079His Single submitter ⚠
p.Arg1081Gln Single submitter ⚠
p.Arg1088Gln Single submitter ⚠
p.Arg1120Trp Single submitter ⚠
p.Arg1130Gln Single submitter ⚠
p.Arg1130Trp Single submitter ⚠
p.Arg1143Gln Single submitter ⚠
p.Arg1143Trp Single submitter ⚠
p.Arg1154Cys Single submitter ⚠
p.Arg1154His Single submitter ⚠
p.Arg118Gln Single submitter ⚠
p.Arg1202Gln Single submitter ⚠
p.Arg1213Gln Single submitter ⚠
p.Arg1213Trp Single submitter ⚠
p.Arg1216Gln Single submitter ⚠
p.Arg1244Trp Single submitter ⚠
p.Arg1249His Single submitter ⚠
p.Arg1260His Single submitter ⚠
p.Arg1289Cys Single submitter ⚠
p.Arg1342Trp Single submitter ⚠
p.Arg1344Gln Single submitter ⚠
p.Arg1382Gln Single submitter ⚠
p.Arg1417Cys Single submitter ⚠
p.Arg1419Trp Single submitter ⚠
p.Arg1447Gly Single submitter ⚠
p.Arg1505Gln Single submitter ⚠
p.Arg1505Leu Single submitter ⚠
p.Arg161Cys Single submitter ⚠
p.Arg175Gln Single submitter ⚠
p.Arg185Gln Single submitter ⚠
p.Arg225Trp Single submitter ARHGEF40 related disorder ⚠
p.Arg253Met Single submitter ⚠
p.Arg269Trp Single submitter ⚠
p.Arg274Cys Single submitter ⚠
p.Arg282His Single submitter ⚠
p.Arg285Gly Single submitter ⚠
p.Arg298Trp Single submitter ⚠
p.Arg304Cys Single submitter ⚠
p.Arg373Gln Single submitter ⚠
p.Arg373Trp Single submitter ⚠
p.Arg388Gln Single submitter ⚠
p.Arg580Ser Single submitter ⚠
p.Arg622Gln Single submitter ⚠
p.Arg622Gly Single submitter ⚠
p.Arg685His Single submitter ⚠
p.Arg727Gln Single submitter ⚠
p.Arg727Trp Single submitter ⚠
p.Arg783Trp Single submitter ⚠
p.Arg787Gln Single submitter ⚠
p.Arg788Gln Single submitter ⚠
p.Arg825Cys Single submitter ⚠
p.Arg825His Single submitter ⚠
p.Arg839Gln Single submitter ⚠
p.Arg839Pro Single submitter ⚠
p.Arg839Trp Single submitter ⚠
p.Arg870Gly Single submitter ⚠
p.Arg870Trp Single submitter ⚠
p.Arg876Cys Single submitter ⚠
p.Arg876His Single submitter ⚠
p.Arg891Gln Single submitter ⚠
p.Arg899Gln Single submitter ⚠
p.Arg909Trp Single submitter ⚠
p.Arg910Gln Single submitter ⚠
p.Arg923Gln Single submitter ⚠
p.Arg923Trp Single submitter ⚠
p.Arg940Cys Single submitter ⚠
p.Arg940His Single submitter ⚠
p.Arg944Cys Single submitter ⚠
p.Arg944His Single submitter ⚠
p.Arg963Gln Single submitter ⚠
p.Arg966Gln Single submitter ⚠
p.Arg967Gln Single submitter ⚠
p.Arg968Gln Single submitter ⚠
p.Arg968Trp Single submitter ⚠
p.Arg969Gln Single submitter ⚠
p.Asn569Ile Single submitter ⚠
p.Asn647Asp Single submitter ⚠
p.Asp1015Tyr Single submitter ⚠
p.Asp104Asn Single submitter ⚠
p.Asp1067His Single submitter ⚠
p.Asp1472Val Single submitter ⚠
p.Asp229Asn Single submitter ⚠
p.Asp229Tyr Single submitter ⚠
p.Asp613Tyr Single submitter ⚠
p.Asp629His Single submitter ⚠
p.Asp971His Single submitter ⚠
p.Cys1233Ser Single submitter ⚠
p.Cys462Tyr Single submitter ⚠
p.Gln1087Glu Single submitter ⚠
p.Gln1146Glu Single submitter ⚠
p.Gln610His Single submitter ⚠
p.Gln64Glu Single submitter ⚠
p.Gln768His Single submitter ⚠
p.Gln863Glu Single submitter ⚠
p.Glu1018Gln Single submitter ⚠
p.Glu1019Asp Single submitter ⚠
p.Glu1022Lys Single submitter ⚠
p.Glu1092Gln Single submitter ⚠
p.Glu1106Lys Single submitter ⚠
p.Glu1247Lys Single submitter ⚠
p.Glu1348Asp Single submitter ⚠
p.Glu190Lys Single submitter ⚠
p.Glu323Lys Single submitter ⚠
p.Glu4Gly Single submitter ⚠
p.Glu764Asp Single submitter ⚠
p.Glu764Lys Single submitter ⚠
p.Glu78Gln Single submitter ⚠
p.Glu840Ala Single submitter ⚠
p.Gly1029Asp Single submitter ⚠
p.Gly1029Ser Single submitter ⚠
p.Gly1061Ser Single submitter ⚠
p.Gly1065Glu Single submitter ⚠
p.Gly1068Arg Single submitter ⚠
p.Gly127Glu Single submitter ⚠
p.Gly1308Ala Single submitter ⚠
p.Gly1331Arg Single submitter ⚠
p.Gly1431Ser Single submitter ⚠
p.Gly1436Val Single submitter ⚠
p.Gly1502Glu Single submitter ⚠
p.Gly299Ser Single submitter ⚠
p.Gly307Ser Single submitter ⚠
p.Gly346Arg Single submitter ⚠
p.Gly357Arg Single submitter ⚠
p.Gly358Glu Single submitter ⚠
p.Gly490Asp Single submitter ⚠
p.Gly703Arg Single submitter ⚠
p.Gly714Arg Single submitter ⚠
p.Gly736Ala Single submitter ⚠
p.Gly939Asp Single submitter ⚠
p.Gly977Arg Single submitter ⚠
p.His1487Asp Single submitter ⚠
p.His196Tyr Single submitter ⚠
p.His291Tyr Single submitter ⚠
p.His677Gln Single submitter ⚠
p.His776Gln Single submitter ⚠
p.His77Arg Single submitter ⚠
p.Ile1281Val Single submitter ⚠
p.Ile1399Thr Single submitter ⚠
p.Leu1208Val Single submitter ⚠
p.Leu124Pro Single submitter ⚠
p.Leu1273Phe Single submitter ⚠
p.Leu1434Val Single submitter ⚠
p.Leu1501Ser Single submitter ⚠
p.Leu217Ile Single submitter ⚠
p.Leu530Trp Single submitter ⚠
p.Leu575Ile Single submitter ⚠
p.Leu600Arg Single submitter ⚠
p.Leu719Val Single submitter ⚠
p.Leu769Val Single submitter ⚠
p.Leu906Val Single submitter ⚠
p.Lys1302Arg Single submitter ⚠
p.Lys1458Glu Single submitter ⚠
p.Lys440Arg Single submitter ⚠
p.Lys446Arg Single submitter ⚠
p.Lys717Arg Single submitter ⚠
p.Met1194Val Single submitter ⚠
p.Met1324Val Single submitter ⚠
p.Phe807Leu Single submitter ⚠
p.Pro1107Ser Single submitter ⚠
p.Pro1198Leu Single submitter ⚠
p.Pro1227Arg Single submitter ⚠
p.Pro126Ser Single submitter ⚠
p.Pro1357Ser Single submitter ⚠
p.Pro1439Leu Single submitter ⚠
p.Pro1464Ser Single submitter ⚠
p.Pro1485Arg Single submitter ⚠
p.Pro1485His Single submitter ⚠
p.Pro1485Leu Single submitter ⚠
p.Pro1485Thr Single submitter ⚠
p.Pro202Thr Single submitter ⚠
p.Pro209Thr Single submitter ⚠
p.Pro272Ala Single submitter ⚠
p.Pro372Leu Single submitter ⚠
p.Pro418Ser Single submitter ⚠
p.Pro441Leu Single submitter ⚠
p.Pro491Ser Single submitter ⚠
p.Pro555Leu Single submitter ⚠
p.Pro668Thr Single submitter ⚠
p.Pro985Leu Single submitter ⚠
p.Pro987Thr Single submitter ⚠
p.Pro998Ala Single submitter ⚠
p.Pro998Ser Single submitter ⚠
p.Ser1082Asn Single submitter ⚠
p.Ser1082Cys Single submitter ⚠
p.Ser1366Phe Single submitter ⚠
p.Ser1490Arg Single submitter ⚠
p.Ser1507Asn Single submitter ⚠
p.Ser915Arg Single submitter ⚠
p.Ser984Asn Single submitter ⚠
p.Ser996Arg Single submitter ⚠
p.Thr1074Ala Single submitter ⚠
p.Thr1212Ile Single submitter ⚠
p.Thr1351Ala Single submitter ⚠
p.Thr1351Ile Single submitter ⚠
p.Thr249Met Single submitter ⚠
p.Thr371Ile Single submitter ⚠
p.Thr465Ile Single submitter ⚠
p.Thr539Met Single submitter ⚠
p.Thr633Pro Single submitter ⚠
p.Thr918Ile Single submitter ⚠
p.Trp673Cys Single submitter ⚠
p.Tyr242Cys Single submitter ⚠
p.Tyr759His Single submitter ⚠
p.Val1101Met Single submitter ⚠
p.Val1383Ala Single submitter ⚠
p.Val1424Leu Single submitter ⚠
p.Val1424Met Single submitter ⚠
p.Val252Leu Single submitter ⚠
p.Val518Ile Single submitter ⚠
p.Val520Phe Single submitter ⚠
p.Val590Ile Single submitter ⚠
p.Val652Leu Single submitter ⚠
p.Val777Met Single submitter ⚠
p.Val853Leu Single submitter ⚠
p.Arg393Gly No assertion criteria prostate cancer ⚠
p.Gly587_Leu591delinsVal No assertion criteria myoepithelial tumor