EDC4 — 162 ClinVar variants

All ClinVar germline EDC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →

2 Benign · 9 Likely benign · 151 Uncertain significance

Full EDC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 153

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.

Predictors split 73

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

All EDC4 variants

Benign 2

p.Gly309= Multiple submitters
c.1541+10T>G Single submitter

Likely benign 9

p.Ala562Thr Single submitter
p.Arg1366His Single submitter
p.Asp490Glu Single submitter
p.Asp580Asn Single submitter ⚠
p.Gly1194Ser Single submitter
p.Ser1338= Single submitter
p.Ser275Gly Single submitter ⚠
p.Thr911= Single submitter
p.Val885= Single submitter

Uncertain significance 151

p.Ala1030Val Single submitter ⚠
p.Ala1036Thr Single submitter ⚠
p.Ala1076Thr Single submitter ⚠
p.Ala1117Asp Single submitter ⚠
p.Ala1284Val Single submitter ⚠
p.Ala26Gly Single submitter ⚠
p.Ala497Thr Single submitter ⚠
p.Ala635Val Single submitter ⚠
p.Ala687Thr Single submitter ⚠
p.Ala703Ser Single submitter ⚠
p.Ala857Thr Single submitter ⚠
p.Ala857Val Single submitter ⚠
p.Ala876Thr Single submitter ⚠
p.Ala889Val Single submitter ⚠
p.Arg1004Trp Single submitter ⚠
p.Arg1015Trp Single submitter ⚠
p.Arg1038Gln Single submitter ⚠
p.Arg1159Gln Single submitter ⚠
p.Arg1162Trp Single submitter ⚠
p.Arg1175Trp Single submitter ⚠
p.Arg1197His Single submitter ⚠
p.Arg1221Cys Single submitter ⚠
p.Arg1221His Single submitter ⚠
p.Arg1247His Single submitter ⚠
p.Arg205Cys Single submitter ⚠
p.Arg222Trp Single submitter ⚠
p.Arg233Cys Single submitter ⚠
p.Arg263Gln Single submitter ⚠
p.Arg273Cys Single submitter ⚠
p.Arg35Gln Single submitter ⚠
p.Arg35Trp Single submitter ⚠
p.Arg368Lys Single submitter ⚠
p.Arg469Gly Single submitter ⚠
p.Arg469His Single submitter ⚠
p.Arg471Trp Single submitter ⚠
p.Arg522Cys Single submitter ⚠
p.Arg522His Single submitter ⚠
p.Arg550Gln Single submitter ⚠
p.Arg678His Single submitter ⚠
p.Arg754His Single submitter ⚠
p.Arg860Gln Single submitter ⚠
p.Arg903Gln Single submitter ⚠
p.Arg903Trp Single submitter ⚠
p.Arg916Gln Single submitter ⚠
p.Arg965Leu Single submitter ⚠
p.Arg974Cys Single submitter ⚠
p.Arg992Leu Single submitter ⚠
p.Asn41Ser Single submitter ⚠
p.Asn45Ser Single submitter ⚠
p.Asp1301Ala Single submitter ⚠
p.Asp1301Gly Single submitter ⚠
p.Asp1351Glu Single submitter ⚠
p.Asp318Asn Single submitter ⚠
p.Asp318Gly Single submitter ⚠
p.Asp332Asn Single submitter ⚠
p.Asp399Gly Single submitter ⚠
p.Asp490Val Single submitter ⚠
p.Cys1261Ser Single submitter ⚠
p.Cys1261Tyr Single submitter ⚠
p.Cys194Ser Single submitter ⚠
p.Gln376Arg Single submitter ⚠
p.Glu1163Asp Single submitter ⚠
p.Glu197Lys Single submitter ⚠
p.Glu246Gly Single submitter ⚠
p.Glu32Gly Single submitter ⚠
p.Glu481Lys Single submitter ⚠
p.Glu552Lys Single submitter ⚠
p.Glu651Lys Single submitter ⚠
p.Glu948Lys Single submitter ⚠
p.Glu999Gly Single submitter ⚠
p.Gly1194Val Single submitter ⚠
p.Gly174Ser Single submitter ⚠
p.Gly557Asp Single submitter ⚠
p.Gly564Ser Single submitter ⚠
p.Gly913Arg Single submitter ⚠
p.His1205Arg Single submitter ⚠
p.His1346Tyr Single submitter ⚠
p.His260Arg Single submitter ⚠
p.Ile1098Thr Single submitter ⚠
p.Ile291Val Single submitter ⚠
p.Ile326Asn Single submitter ⚠
p.Ile608Met Single submitter ⚠
p.Leu1318Val Single submitter ⚠
p.Leu272His Single submitter ⚠
p.Leu431Phe Single submitter ⚠
p.Leu569Pro Single submitter ⚠
p.Leu661Pro Single submitter ⚠
p.Leu673Ile Single submitter ⚠
p.Leu776Val Single submitter ⚠
p.Leu795Phe Single submitter ⚠
p.Leu888Phe Single submitter ⚠
p.Lys1157Asn Single submitter ⚠
p.Lys77Arg Single submitter ⚠
p.Met1156Thr Single submitter ⚠
p.Met158Val Single submitter ⚠
p.Met382Val Single submitter ⚠
p.Met599Val Single submitter ⚠
p.Met636Thr Single submitter ⚠
p.Met667Leu Single submitter ⚠
p.Met667Val Single submitter ⚠
p.Phe1118Leu Single submitter ⚠
p.Phe1372Ile Single submitter ⚠
p.Phe232Leu Single submitter ⚠
p.Pro1052Leu Single submitter ⚠
p.Pro1053Ser Single submitter ⚠
p.Pro1312Leu Single submitter ⚠
p.Pro34Ser Single submitter ⚠
p.Pro36Ser Single submitter ⚠
p.Pro688Ala Single submitter ⚠
p.Pro716Ala Single submitter ⚠
p.Pro791Ser Single submitter ⚠
p.Pro828Ala Single submitter ⚠
p.Pro900Ala Single submitter ⚠
p.Pro900Arg Single submitter ⚠
p.Pro946Thr Single submitter ⚠
p.Pro947Ser Single submitter ⚠
p.Pro951Ala Single submitter ⚠
p.Pro951Ser Single submitter ⚠
p.Ser1032Leu Single submitter ⚠
p.Ser104Asn Single submitter ⚠
p.Ser1183Asn Single submitter ⚠
p.Ser1195Asn Single submitter ⚠
p.Ser33Ile Single submitter ⚠
p.Ser38Ile Single submitter ⚠
p.Ser611Pro Single submitter ⚠
p.Ser615Gly Single submitter ⚠
p.Ser617Arg Single submitter ⚠
p.Ser622Asn Single submitter ⚠
p.Ser625Gly Single submitter ⚠
p.Ser672Asn Single submitter ⚠
p.Ser6Ile Single submitter ⚠
p.Ser737Cys Single submitter ⚠
p.Ser759Phe Single submitter ⚠
p.Ser918Leu Single submitter ⚠
p.Thr1075Ile Single submitter ⚠
p.Thr1286Ala Single submitter ⚠
p.Thr1333Ser Single submitter ⚠
p.Thr539Ile Single submitter ⚠
p.Thr704Ser Single submitter ⚠
p.Thr829Ile Single submitter ⚠
p.Thr834Ala Single submitter ⚠
p.Thr897Ile Single submitter ⚠
p.Val1223Ile Single submitter ⚠
p.Val1229Met Single submitter ⚠
p.Val1300Met Single submitter ⚠
p.Val1344Met Single submitter ⚠
p.Val1396Met Single submitter ⚠
p.Val203Leu Single submitter ⚠
p.Val281Met Single submitter ⚠
p.Val283Ile Single submitter ⚠
p.Val990Ile Single submitter ⚠