ERICH3 — 234 ClinVar variants

All ClinVar germline ERICH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 217 flagged for review →

1 Benign · 17 Likely benign · 216 Uncertain significance

Full ERICH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 217

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 167

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 167

Predictors split 50

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

All ERICH3 variants

Benign 1

p.Arg810= Single submitter

Likely benign 17

c.1489+8A>G Single submitter
p.Arg1286Ser Single submitter
p.Arg1480Gln Single submitter
p.Arg1507Gln Single submitter
p.Asp608Glu Single submitter
p.Gly421Arg Single submitter
p.Gly672Glu Single submitter
p.His1248Gln Single submitter
p.Ile974Val Single submitter
p.Leu899Ser Single submitter
p.Lys441Arg Single submitter
p.Lys828Glu Single submitter
p.Met1034Val Single submitter
p.Met959Val Single submitter
p.Pro407Leu Single submitter ⚠
p.Thr1496Ala Single submitter
p.Thr750Arg Single submitter

Uncertain significance 216

p.Ala1022Gly Single submitter ⚠
p.Ala1083Glu Single submitter ⚠
p.Ala1100Val Single submitter ⚠
p.Ala1117Ser Single submitter ⚠
p.Ala1185Val Single submitter ⚠
p.Ala1215Ser Single submitter ⚠
p.Ala1218Thr Single submitter ⚠
p.Ala1240Thr Single submitter ⚠
p.Ala1252Ser Single submitter ⚠
p.Ala1275Val Single submitter ⚠
p.Ala1339Thr Single submitter ⚠
p.Ala1339Val Single submitter ⚠
p.Ala1354Pro Single submitter ⚠
p.Ala1354Ser Single submitter ⚠
p.Ala1409Thr Single submitter ⚠
p.Ala1418Ser Single submitter ⚠
p.Ala1418Thr Single submitter ⚠
p.Ala1436Gly Single submitter ⚠
p.Ala1436Ser Single submitter ⚠
p.Ala1521Glu Single submitter ⚠
p.Ala710Ser Single submitter ⚠
p.Ala740Val Single submitter ⚠
p.Ala811Val Single submitter ⚠
p.Ala902Ser Single submitter ⚠
p.Ala938Pro Single submitter ⚠
p.Ala973Val Single submitter ⚠
p.Arg1065Lys Single submitter ⚠
p.Arg1082Ser Single submitter ⚠
p.Arg1110Ile Single submitter ⚠
p.Arg1110Ser Single submitter ⚠
p.Arg111Ser Single submitter ⚠
p.Arg1465Ser Single submitter ⚠
p.Arg1475Pro Single submitter ⚠
p.Arg1480Pro Single submitter ⚠
p.Arg1507Leu Single submitter ⚠
p.Arg165Gln Single submitter ⚠
p.Arg184Met Single submitter ⚠
p.Arg255Lys Single submitter ⚠
p.Arg256Lys Single submitter ⚠
p.Arg259Ser Single submitter ⚠
p.Arg308Gln Single submitter ⚠
p.Arg308Trp Single submitter ⚠
p.Arg32Gly Single submitter ⚠
p.Arg371Trp Single submitter ⚠
p.Arg413Gly Single submitter ⚠
p.Arg555Cys Single submitter ⚠
p.Arg59Gln Single submitter ⚠
p.Arg66Gln Single submitter ⚠
p.Arg837Thr Single submitter ⚠
p.Arg850Ser Single submitter ⚠
p.Arg966Thr Single submitter ⚠
p.Asn1120Asp Single submitter ⚠
p.Asn228Lys Single submitter ⚠
p.Asn26Tyr Single submitter ⚠
p.Asn667Thr Single submitter ⚠
p.Asn912Thr Single submitter ⚠
p.Asp1028Glu Single submitter ⚠
p.Asp1125Asn Single submitter ⚠
p.Asp489Asn Single submitter ⚠
p.Asp539Glu Single submitter ⚠
p.Asp556Tyr Single submitter ⚠
p.Asp560Tyr Single submitter ⚠
p.Asp60Tyr Single submitter ⚠
p.Asp778Tyr Single submitter ⚠
p.Asp785Tyr Single submitter ⚠
p.Cys324Arg Single submitter ⚠
p.Cys365Arg Single submitter ⚠
p.Gln316Pro Single submitter ⚠
p.Gln337Arg Single submitter ⚠
p.Gln337Pro Single submitter ⚠
p.Gln647Glu Single submitter ⚠
p.Gln678Arg Single submitter ⚠
p.Gln764Lys Single submitter ⚠
p.Glu1002Asp Single submitter ⚠
p.Glu1027Gln Single submitter ⚠
p.Glu1059Lys Single submitter ⚠
p.Glu1064Asp Single submitter ⚠
p.Glu1094Asp Single submitter ⚠
p.Glu1106Asp Single submitter ⚠
p.Glu1158Asp Single submitter ⚠
p.Glu1168Lys Single submitter ⚠
p.Glu1176Gly Single submitter ⚠
p.Glu1189Gly Single submitter ⚠
p.Glu1200Asp Single submitter ⚠
p.Glu1206Gln Single submitter ⚠
p.Glu1298Lys Single submitter ⚠
p.Glu1384Lys Single submitter ⚠
p.Glu1447Lys Single submitter ⚠
p.Glu1519Gln Single submitter ⚠
p.Glu195Gly Single submitter ⚠
p.Glu487Ala Single submitter ⚠
p.Glu511Gly Single submitter ⚠
p.Glu561Asp Single submitter ⚠
p.Glu567Lys Single submitter ⚠
p.Glu571Lys Single submitter ⚠
p.Glu637Lys Single submitter ⚠
p.Glu695Gly Single submitter ⚠
p.Glu723Gln Single submitter ⚠
p.Glu823Lys Single submitter ⚠
p.Glu894Lys Single submitter ⚠
p.Glu929Gly Single submitter ⚠
p.Glu934Val Single submitter ⚠
p.Glu944Lys Single submitter ⚠
p.Glu971Gln Single submitter ⚠
p.Glu983Gly Single submitter ⚠
p.Gly1011Ser Single submitter ⚠
p.Gly1103Arg Single submitter ⚠
p.Gly1145Arg Single submitter ⚠
p.Gly1214Glu Single submitter ⚠
p.Gly1238Ser Single submitter ⚠
p.Gly1346Asp Single submitter ⚠
p.Gly1477Arg Single submitter ⚠
p.Gly295Glu Single submitter ⚠
p.Gly381Ser Single submitter ⚠
p.Gly402Arg Single submitter ⚠
p.Gly689Val Single submitter ⚠
p.Gly855Arg Single submitter ⚠
p.Gly855Val Single submitter ⚠
p.Gly943Arg Single submitter ⚠
p.His1208Tyr Single submitter ⚠
p.His123Pro Single submitter ⚠
p.His20Pro Single submitter ⚠
p.His370Asn Single submitter ⚠
p.Ile1170Val Single submitter ⚠
p.Ile213Thr Single submitter ⚠
p.Ile234Phe Single submitter ⚠
p.Ile278Ser Single submitter ⚠
p.Ile278Thr Single submitter ⚠
p.Ile636Thr Single submitter ⚠
p.Ile680Met Single submitter ⚠
p.Ile788Met Single submitter ⚠
p.Ile835Leu Single submitter ⚠
p.Ile859Met Single submitter ⚠
p.Leu1098Arg Single submitter ⚠
p.Leu120Val Single submitter ⚠
p.Leu1476Ser Single submitter ⚠
p.Leu1478Ser Single submitter ⚠
p.Leu1491Pro Single submitter ⚠
p.Leu169Phe Single submitter ⚠
p.Leu270Val Single submitter ⚠
p.Leu465Phe Single submitter ⚠
p.Leu570Val Single submitter ⚠
p.Leu684Ser Single submitter ⚠
p.Leu704Phe Single submitter ⚠
p.Leu738Phe Single submitter ⚠
p.Leu78Pro Single submitter ⚠
p.Leu883Phe Single submitter ⚠
p.Leu904Pro Single submitter ⚠
p.Lys1093Arg Single submitter ⚠
p.Lys1191Arg Single submitter ⚠
p.Lys1369Arg Single submitter ⚠
p.Lys1396Arg Single submitter ⚠
p.Lys188Thr Single submitter ⚠
p.Lys243Ile Single submitter ⚠
p.Lys243Thr Single submitter ⚠
p.Lys273Glu Single submitter ⚠
p.Lys312Thr Single submitter ⚠
p.Lys333Glu Single submitter ⚠
p.Lys406Thr Single submitter ⚠
p.Lys512Asn Single submitter ⚠
p.Lys53Asn Single submitter ⚠
p.Lys657Arg Single submitter ⚠
p.Lys757Glu Single submitter ⚠
p.Lys76Glu Single submitter ⚠
p.Lys792Arg Single submitter ⚠
p.Met231Val Single submitter ⚠
p.Met291Ile Single submitter ⚠
p.Met401Leu Single submitter ⚠
p.Met577Val Single submitter ⚠
p.Met57Arg Single submitter ⚠
p.Met988Arg Single submitter ⚠
p.Pro1119Arg Single submitter ⚠
p.Pro162His Single submitter ⚠
p.Pro168Thr Single submitter ⚠
p.Pro170Ser Single submitter ⚠
p.Pro179Ser Single submitter ⚠
p.Pro393Leu Single submitter ⚠
p.Pro407Ser Single submitter ⚠
p.Pro410Leu Single submitter ⚠
p.Pro481Leu Single submitter ⚠
p.Pro552Ser Single submitter ⚠
p.Pro858Ser Single submitter ⚠
p.Pro958Ser Single submitter ⚠
p.Pro980Ala Single submitter ⚠
p.Pro980Ser Single submitter ⚠
p.Ser1004Arg Single submitter ⚠
p.Ser1017Arg Single submitter ⚠
p.Ser1017Asn Single submitter ⚠
p.Ser1069Thr Single submitter ⚠
p.Ser130Asn Single submitter ⚠
p.Ser144Thr Single submitter ⚠
p.Ser187Thr Single submitter ⚠
p.Ser212Cys Single submitter ⚠
p.Ser547Pro Single submitter ⚠
p.Ser928Leu Single submitter ⚠
p.Thr1115Arg Single submitter ⚠
p.Thr1115Ile Single submitter ⚠
p.Thr1303Pro Single submitter ⚠
p.Thr1352Ile Single submitter ⚠
p.Thr1365Lys Single submitter ⚠
p.Thr241Ala Single submitter ⚠
p.Thr272Lys Single submitter ⚠
p.Thr418Ile Single submitter ⚠
p.Thr611Arg Single submitter ⚠
p.Thr750Ile Single submitter ⚠
p.Thr94Ala Single submitter ⚠
p.Thr990Lys Single submitter ⚠
p.Trp253Arg Single submitter ⚠
p.Val1109Ala Single submitter ⚠
p.Val1153Ala Single submitter ⚠
p.Val1154Ile Single submitter ⚠
p.Val126Ile Single submitter ⚠
p.Val1337Ala Single submitter ⚠
p.Val789Ile Single submitter ⚠
p.Val848Gly Single submitter ⚠
p.Val903Ala Single submitter ⚠