EFCAB6 — 276 ClinVar variants

All ClinVar germline EFCAB6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 248 flagged for review →

1 Conflicting · 23 Likely benign · 252 Uncertain significance

Full EFCAB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 248

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.

EFCAB6 p.Pro711Leu Conflicting Single submitter

Predictors lean, ClinVar uncertain 211

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 211

Predictors split 36

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

All EFCAB6 variants

Conflicting classifications of pathogenicity 1

p.Pro711Leu Single submitter ⚠

Likely benign 23

c.2098+4G>C Single submitter
p.Ala261Val Single submitter
p.Ala543Glu Single submitter
p.Arg1016Trp Single submitter
p.Arg1316Ser Single submitter
p.Arg160= Single submitter
p.Arg965His Single submitter
p.Asn1344= Single submitter
p.Asp1018Asn Single submitter
p.Asp420Asn Single submitter
p.Gln553Glu Single submitter
p.Glu214Lys Single submitter
p.His14Tyr Single submitter
p.Ile532Val Single submitter
p.Ile569Met Single submitter
p.Lys640Arg Single submitter
p.Met463Val Single submitter
p.Pro1235Leu Single submitter
p.Ser13Leu Single submitter
p.Ser371Asn Single submitter
p.Ser93Asn Single submitter
p.Val1267Ile Single submitter
p.Val721Leu Single submitter

Uncertain significance 252

p.Ala1038Val Single submitter ⚠
p.Ala1168Gly Single submitter ⚠
p.Ala1203Val Single submitter ⚠
p.Ala1296Glu Single submitter ⚠
p.Ala1424Gly Single submitter ⚠
p.Ala1457Val Single submitter ⚠
p.Ala567Pro Single submitter ⚠
p.Ala728Thr Single submitter ⚠
p.Ala875Thr Single submitter ⚠
p.Ala893Thr Single submitter ⚠
p.Arg1016Gln Single submitter ⚠
p.Arg108Gln Single submitter ⚠
p.Arg1164Thr Single submitter ⚠
p.Arg1169His Single submitter ⚠
p.Arg1208Cys Single submitter ⚠
p.Arg1219Ser Single submitter ⚠
p.Arg1318Gln Single submitter ⚠
p.Arg134Thr Single submitter ⚠
p.Arg1427Cys Single submitter ⚠
p.Arg1497Gln Single submitter ⚠
p.Arg157His Single submitter ⚠
p.Arg157Leu Single submitter ⚠
p.Arg18Gln Single submitter ⚠
p.Arg18Ter Single submitter
p.Arg209Ser Single submitter ⚠
p.Arg24Lys Single submitter ⚠
p.Arg268Cys Single submitter ⚠
p.Arg268His Single submitter ⚠
p.Arg289Met Single submitter ⚠
p.Arg514Cys Single submitter ⚠
p.Arg514His Single submitter ⚠
p.Arg523Cys Single submitter ⚠
p.Arg62Trp Single submitter ⚠
p.Arg642Gln Single submitter ⚠
p.Arg738Lys Single submitter ⚠
p.Arg744Gln Single submitter ⚠
p.Arg744Trp Single submitter ⚠
p.Arg792Thr Single submitter ⚠
p.Arg868Gln Single submitter ⚠
p.Arg869Leu Single submitter ⚠
p.Arg870Gln Single submitter ⚠
p.Arg922Trp Single submitter ⚠
p.Arg97Ile Single submitter ⚠
p.Asn1019Ser Single submitter ⚠
p.Asn1032Lys Single submitter ⚠
p.Asn1227Ser Single submitter ⚠
p.Asn1469Ser Single submitter ⚠
p.Asn240Asp Single submitter ⚠
p.Asn320Thr Single submitter ⚠
p.Asn354Asp Single submitter ⚠
p.Asn528Lys Single submitter ⚠
p.Asn651Tyr Single submitter ⚠
p.Asn655His Single submitter ⚠
p.Asn776Asp Single submitter ⚠
p.Asn861Asp Single submitter ⚠
p.Asn861Ser Single submitter ⚠
p.Asp101Asn Single submitter ⚠
p.Asp1025Asn Single submitter ⚠
p.Asp1163Glu Single submitter ⚠
p.Asp1218Asn Single submitter ⚠
p.Asp1347Asn Single submitter ⚠
p.Asp139Gly Single submitter ⚠
p.Asp242Asn Single submitter ⚠
p.Asp277Gly Single submitter ⚠
p.Asp285Asn Single submitter ⚠
p.Asp310Asn Single submitter ⚠
p.Asp310Glu Single submitter ⚠
p.Asp452Glu Single submitter ⚠
p.Asp585Asn Single submitter ⚠
p.Asp672Asn Single submitter ⚠
p.Asp693Gly Single submitter ⚠
p.Asp70Asn Single submitter ⚠
p.Asp896Asn Single submitter Reduced sperm motility ⚠
p.Asp960Asn Single submitter ⚠
p.Asp968Gly Single submitter ⚠
p.Cys1332Arg Single submitter ⚠
p.Cys1388Arg Single submitter ⚠
p.Cys806Phe Single submitter ⚠
p.Gln1183Glu Single submitter ⚠
p.Gln1340Arg Single submitter ⚠
p.Gln1365Arg Single submitter ⚠
p.Gln340His Single submitter ⚠
p.Gln712Arg Single submitter ⚠
p.Gln942Arg Single submitter ⚠
p.Glu1002Lys Single submitter ⚠
p.Glu1004Lys Single submitter ⚠
p.Glu109Val Single submitter ⚠
p.Glu1139Asp Single submitter ⚠
p.Glu1140Gln Single submitter ⚠
p.Glu1184Asp Single submitter ⚠
p.Glu1200Gly Single submitter ⚠
p.Glu1215Lys Single submitter ⚠
p.Glu1480Asp Single submitter ⚠
p.Glu152Gly Single submitter ⚠
p.Glu161Lys Single submitter ⚠
p.Glu202Gly Single submitter ⚠
p.Glu288Gly Single submitter ⚠
p.Glu495Lys Single submitter ⚠
p.Glu707Asp Single submitter ⚠
p.Glu74Lys Single submitter ⚠
p.Glu781Gln Single submitter ⚠
p.Glu889Gln Single submitter ⚠
p.Glu898Lys Single submitter ⚠
p.Glu944Gly Single submitter ⚠
p.Gly1013Arg Single submitter ⚠
p.Gly1095Arg Single submitter ⚠
p.Gly1261Trp Single submitter ⚠
p.Gly1303Ala Single submitter ⚠
p.Gly136Ser Single submitter ⚠
p.Gly1415Ser Single submitter ⚠
p.Gly148Val Single submitter ⚠
p.Gly149Ser Single submitter ⚠
p.Gly190Arg Single submitter
p.Gly570Glu Single submitter ⚠
p.Gly688Ala Single submitter ⚠
p.Gly705Arg Single submitter ⚠
p.Gly901Ala Single submitter ⚠
p.Gly913Ser Single submitter ⚠
p.His1007Pro Single submitter ⚠
p.His1177Arg Single submitter ⚠
p.His1179Pro Single submitter ⚠
p.His1401Arg Single submitter ⚠
p.His1477Arg Single submitter
p.His363Arg Single submitter ⚠
p.His363Pro Single submitter ⚠
p.His544Arg Single submitter ⚠
p.His544Tyr Single submitter ⚠
p.His724Arg Single submitter ⚠
p.His767Gln Single submitter ⚠
p.Ile1343Leu Single submitter ⚠
p.Ile1359Met Single submitter ⚠
p.Ile1490Val Single submitter ⚠
p.Ile164Val Single submitter ⚠
p.Ile174Met Single submitter ⚠
p.Ile324Phe Single submitter ⚠
p.Ile465Thr Single submitter ⚠
p.Ile726Phe Single submitter ⚠
p.Ile761Thr Single submitter ⚠
p.Ile821Ser Single submitter ⚠
p.Ile903Val Single submitter ⚠
p.Ile914Thr Single submitter ⚠
p.Ile984Leu Single submitter ⚠
p.Ile98Thr Single submitter ⚠
p.Leu1000Val Single submitter ⚠
p.Leu1005Val Single submitter ⚠
p.Leu1074Phe Single submitter ⚠
p.Leu11Phe Single submitter ⚠
p.Leu1275Pro Single submitter ⚠
p.Leu132Arg Single submitter
p.Leu1390Phe Single submitter ⚠
p.Leu1470Phe Single submitter ⚠
p.Leu1496Arg Single submitter ⚠
p.Leu326Phe Single submitter ⚠
p.Leu376Arg Single submitter ⚠
p.Leu489Pro Single submitter ⚠
p.Leu663Pro Single submitter ⚠
p.Leu962Phe Single submitter ⚠
p.Lys1083Thr Single submitter ⚠
p.Lys1151Asn Single submitter ⚠
p.Lys1330Glu Single submitter ⚠
p.Lys179Asn Single submitter ⚠
p.Lys265Arg Single submitter ⚠
p.Lys390Arg Single submitter ⚠
p.Lys390Glu Single submitter ⚠
p.Lys396Arg Single submitter ⚠
p.Lys617Glu Single submitter ⚠
p.Lys630Glu Single submitter ⚠
p.Lys67Glu Single submitter ⚠
p.Lys718Glu Single submitter ⚠
p.Lys961Glu Single submitter ⚠
p.Met1191Val Single submitter ⚠
p.Met1411Leu Single submitter ⚠
p.Met342Arg Single submitter ⚠
p.Met4Ile Single submitter ⚠
p.Met512Thr Single submitter ⚠
p.Met512Val Single submitter ⚠
p.Met703Leu Single submitter ⚠
p.Met703Val Single submitter ⚠
p.Phe1078Leu Single submitter ⚠
p.Phe20Cys Single submitter ⚠
p.Phe345Cys Single submitter ⚠
p.Phe935Tyr Single submitter ⚠
p.Pro1154Leu Single submitter ⚠
p.Pro119Ser Single submitter ⚠
p.Pro127Leu Single submitter ⚠
p.Pro1292His Single submitter ⚠
p.Pro1305Leu Single submitter ⚠
p.Pro334Leu Single submitter ⚠
p.Pro334Thr Single submitter ⚠
p.Pro422Arg Single submitter ⚠
p.Pro600Ser Single submitter ⚠
p.Pro650Ser Single submitter ⚠
p.Pro706Leu Single submitter ⚠
p.Pro710Leu Single submitter ⚠
p.Pro714Ala Single submitter ⚠
p.Pro746Leu Single submitter ⚠
p.Pro823Leu Single submitter ⚠
p.Pro923Arg Single submitter ⚠
p.Ser1288Leu Single submitter ⚠
p.Ser1346Phe Single submitter ⚠
p.Ser1360Asn Single submitter ⚠
p.Ser1397Arg Single submitter ⚠
p.Ser275Phe Single submitter ⚠
p.Ser27Thr Single submitter ⚠
p.Ser296Leu Single submitter ⚠
p.Ser361Thr Single submitter ⚠
p.Ser384Phe Single submitter ⚠
p.Ser462Gly Single submitter ⚠
p.Ser478Pro Single submitter ⚠
p.Ser647Gly Single submitter ⚠
p.Ser970Thr Single submitter ⚠
p.Thr1053Lys Single submitter ⚠
p.Thr1076Met Single submitter ⚠
p.Thr1092Ile Single submitter ⚠
p.Thr1106Met Single submitter ⚠
p.Thr1122Asn Single submitter ⚠
p.Thr1213Met Single submitter ⚠
p.Thr1418Ser Single submitter ⚠
p.Thr226Asn Single submitter ⚠
p.Thr377Arg Single submitter ⚠
p.Thr395Ser Single submitter ⚠
p.Thr54Lys Single submitter ⚠
p.Thr606Ser Single submitter ⚠
p.Thr609Met Single submitter ⚠
p.Thr69Ala Single submitter ⚠
p.Thr69Asn Single submitter ⚠
p.Thr715Pro Single submitter ⚠
p.Thr84Pro Single submitter ⚠
p.Thr84Ser Single submitter ⚠
p.Thr904Ala Single submitter ⚠
p.Thr952Ile Single submitter ⚠
p.Trp1145Arg Single submitter ⚠
p.Trp1325Ser Single submitter ⚠
p.Tyr1112Cys Single submitter ⚠
p.Tyr1381Cys Single submitter ⚠
p.Tyr1422Cys Single submitter ⚠
p.Tyr1422fs Single submitter
p.Tyr316Cys Single submitter ⚠
p.Tyr331Cys Single submitter ⚠
p.Val1014Phe Single submitter ⚠
p.Val1066Ile Single submitter ⚠
p.Val114Ala Single submitter ⚠
p.Val114Met Single submitter ⚠
p.Val1209Ile Single submitter ⚠
p.Val1300Met Single submitter ⚠
p.Val228Ile Single submitter ⚠
p.Val317Leu Single submitter ⚠
p.Val317Met Single submitter ⚠
p.Val437Ala Single submitter ⚠
p.Val721Met Single submitter ⚠
p.Val827Ile Single submitter ⚠
p.Pro105Leu No assertion criteria prostate cancer ⚠