ERICH5 — 52 ClinVar variants
All ClinVar germline ERICH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
4 Likely benign · 48 Uncertain significance
Full ERICH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERICH5 p.Ala164Thr Uncertain significance Single submitter
- ERICH5 p.Ala200Gly Uncertain significance Single submitter
- ERICH5 p.Ala215Asp Uncertain significance Single submitter
- ERICH5 p.Ala215Gly Uncertain significance Single submitter
- ERICH5 p.Ala215Ser Uncertain significance Single submitter
- ERICH5 p.Ala215Val Uncertain significance Single submitter
- ERICH5 p.Ala37Thr Uncertain significance Single submitter
- ERICH5 p.Arg313Gln Uncertain significance Single submitter
- ERICH5 p.Arg325Gly Uncertain significance Single submitter
- ERICH5 p.Arg335Cys Uncertain significance Single submitter
- ERICH5 p.Asn295Ile Uncertain significance Single submitter
- ERICH5 p.Asn330Ser Uncertain significance Single submitter
- ERICH5 p.Asn53Ser Uncertain significance Single submitter
- ERICH5 p.Asn9Ser Uncertain significance Single submitter
- ERICH5 p.Gln243Arg Uncertain significance Single submitter
- ERICH5 p.Gln254Lys Uncertain significance Single submitter
- ERICH5 p.Gln298Lys Uncertain significance Single submitter
- ERICH5 p.Glu102Gly Uncertain significance Single submitter
- ERICH5 p.Glu102Lys Uncertain significance Single submitter
- ERICH5 p.Glu111Gly Uncertain significance Single submitter
- ERICH5 p.Glu166Lys Uncertain significance Single submitter
- ERICH5 p.Glu226Asp Uncertain significance Single submitter
- ERICH5 p.Glu226Gln Uncertain significance Single submitter
- ERICH5 p.Glu232Gln Uncertain significance Single submitter
- ERICH5 p.Glu278Lys Uncertain significance Single submitter
- ERICH5 p.Glu31Ala Uncertain significance Single submitter
- ERICH5 p.Glu339Lys Uncertain significance Single submitter
- ERICH5 p.Gly137Glu Uncertain significance Single submitter
- ERICH5 p.Gly338Ala Uncertain significance Single submitter
- ERICH5 p.His328Leu Uncertain significance Single submitter
- ERICH5 p.His42Gln Uncertain significance Single submitter
- ERICH5 p.Leu218Gln Uncertain significance Single submitter
- ERICH5 p.Leu245Pro Uncertain significance Single submitter
- ERICH5 p.Leu249Ser Uncertain significance Single submitter
- ERICH5 p.Leu276Phe Uncertain significance Single submitter
- ERICH5 p.Lys10Glu Uncertain significance Single submitter
- ERICH5 p.Lys186Thr Uncertain significance Single submitter
- ERICH5 p.Met185Val Uncertain significance Single submitter
- ERICH5 p.Pro151His Uncertain significance Single submitter
- ERICH5 p.Pro71Leu Uncertain significance Single submitter
- ERICH5 p.Ser14Arg Uncertain significance Single submitter
- ERICH5 p.Ser4Cys Uncertain significance Single submitter
- ERICH5 p.Ser58Arg Uncertain significance Single submitter
- ERICH5 p.Thr191Pro Uncertain significance Single submitter
- ERICH5 p.Thr289Ser Uncertain significance Single submitter
- ERICH5 p.Val209Gly Uncertain significance Single submitter
- ERICH5 p.Val266Ala Uncertain significance Single submitter
- ERICH5 p.Val54Glu Uncertain significance Single submitter
All ERICH5 variants
Likely benign 4
- p.Ala134Val Single submitter
- p.Leu218Pro Single submitter
- p.Pro83Ser Single submitter
- p.Val194Ile Single submitter
Uncertain significance 48
- p.Ala164Thr Single submitter ⚠
- p.Ala200Gly Single submitter ⚠
- p.Ala215Asp Single submitter ⚠
- p.Ala215Gly Single submitter ⚠
- p.Ala215Ser Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Arg313Gln Single submitter ⚠
- p.Arg325Gly Single submitter ⚠
- p.Arg335Cys Single submitter ⚠
- p.Asn295Ile Single submitter ⚠
- p.Asn330Ser Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asn9Ser Single submitter ⚠
- p.Gln243Arg Single submitter ⚠
- p.Gln254Lys Single submitter ⚠
- p.Gln298Lys Single submitter ⚠
- p.Glu102Gly Single submitter ⚠
- p.Glu102Lys Single submitter ⚠
- p.Glu111Gly Single submitter ⚠
- p.Glu166Lys Single submitter ⚠
- p.Glu226Asp Single submitter ⚠
- p.Glu226Gln Single submitter ⚠
- p.Glu232Gln Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu31Ala Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Gly137Glu Single submitter ⚠
- p.Gly338Ala Single submitter ⚠
- p.His328Leu Single submitter ⚠
- p.His42Gln Single submitter ⚠
- p.Leu218Gln Single submitter ⚠
- p.Leu245Pro Single submitter ⚠
- p.Leu249Ser Single submitter ⚠
- p.Leu276Phe Single submitter ⚠
- p.Lys10Glu Single submitter ⚠
- p.Lys186Thr Single submitter ⚠
- p.Met185Val Single submitter ⚠
- p.Pro151His Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Ser14Arg Single submitter ⚠
- p.Ser4Cys Single submitter ⚠
- p.Ser58Arg Single submitter ⚠
- p.Thr191Pro Single submitter ⚠
- p.Thr289Ser Single submitter ⚠
- p.Val209Gly Single submitter ⚠
- p.Val266Ala Single submitter ⚠
- p.Val54Glu Single submitter ⚠