ERMN — 49 ClinVar variants
All ClinVar germline ERMN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Benign · 5 Likely benign · 43 Uncertain significance
Full ERMN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERMN p.Ala11Asp Uncertain significance Single submitter
- ERMN p.Ala93Pro Uncertain significance Single submitter
- ERMN p.Arg110Gly Uncertain significance Single submitter
- ERMN p.Arg128Gly Uncertain significance Single submitter
- ERMN p.Arg147Gly Uncertain significance Single submitter
- ERMN p.Arg163Leu Uncertain significance Single submitter
- ERMN p.Asp169Val Uncertain significance Single submitter
- ERMN p.Gln114Arg Uncertain significance Single submitter
- ERMN p.Gln24Arg Uncertain significance Single submitter
- ERMN p.Gln24Glu Uncertain significance Single submitter
- ERMN p.Glu143Asp Uncertain significance Single submitter
- ERMN p.Glu177Asp Uncertain significance Single submitter
- ERMN p.Glu212Asp Uncertain significance Single submitter
- ERMN p.Gly151Asp Uncertain significance Single submitter
- ERMN p.Gly15Val Uncertain significance Single submitter
- ERMN p.Gly245Glu Uncertain significance Single submitter
- ERMN p.His175Arg Uncertain significance Single submitter
- ERMN p.Ile118Thr Uncertain significance Single submitter
- ERMN p.Ile204Thr Uncertain significance Single submitter
- ERMN p.Leu160Met Uncertain significance Single submitter
- ERMN p.Met68Val Uncertain significance Single submitter
- ERMN p.Pro119Ser Uncertain significance Single submitter
- ERMN p.Pro41Ser Uncertain significance Single submitter
- ERMN p.Ser123Ile Uncertain significance Single submitter
- ERMN p.Ser248Asn Uncertain significance Single submitter
- ERMN p.Ser256Tyr Uncertain significance Single submitter
- ERMN p.Thr243Asn Uncertain significance Single submitter
- ERMN p.Thr25Lys Uncertain significance Single submitter
- ERMN p.Tyr255Phe Uncertain significance Single submitter
- ERMN p.Tyr43Cys Uncertain significance Single submitter
- ERMN p.Val213Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ERMN p.Asn193Ile Uncertain significance Single submitter
- ERMN p.Asp144Tyr Uncertain significance Single submitter
- ERMN p.Asp188Gly Uncertain significance Single submitter
- ERMN p.Asp191Gly Uncertain significance Single submitter
- ERMN p.Asp197Gly Uncertain significance Single submitter
- ERMN p.Glu143Ala Uncertain significance Single submitter
- ERMN p.Met282Val Uncertain significance Single submitter
- ERMN p.Pro18Ser Uncertain significance Single submitter
- ERMN p.Ser251Cys Uncertain significance Single submitter
- ERMN p.Trp159Arg Uncertain significance Single submitter
- ERMN p.Trp182Cys Uncertain significance Single submitter
All ERMN variants
Benign 1
- p.Ala52Thr Multiple submitters
Likely benign 5
- c.-17G>A Single submitter
- c.-8C>T Single submitter
- p.Asn193Asp Single submitter
- p.Pro83Ser Single submitter
- p.Thr34Ser Single submitter
Uncertain significance 43
- c.-27T>G Single submitter
- p.Ala11Asp Single submitter ⚠
- p.Ala93Pro Single submitter ⚠
- p.Arg110Gly Single submitter ⚠
- p.Arg128Gly Single submitter ⚠
- p.Arg147Gly Single submitter ⚠
- p.Arg163Leu Single submitter ⚠
- p.Asn193Ile Single submitter ⚠
- p.Asp144Tyr Single submitter ⚠
- p.Asp169Val Single submitter ⚠
- p.Asp188Gly Single submitter ⚠
- p.Asp191Gly Single submitter ⚠
- p.Asp197Gly Single submitter ⚠
- p.Gln114Arg Single submitter ⚠
- p.Gln24Arg Single submitter ⚠
- p.Gln24Glu Single submitter ⚠
- p.Glu143Ala Single submitter ⚠
- p.Glu143Asp Single submitter ⚠
- p.Glu177Asp Single submitter ⚠
- p.Glu212Asp Single submitter ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly15Val Single submitter ⚠
- p.Gly245Glu Single submitter ⚠
- p.His175Arg Single submitter ⚠
- p.Ile118Thr Single submitter ⚠
- p.Ile204Thr Single submitter ⚠
- p.Leu160Met Single submitter ⚠
- p.Met282Val Single submitter ⚠
- p.Met68Val Single submitter ⚠
- p.Pro119Ser Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Ser123Ile Single submitter ⚠
- p.Ser248Asn Single submitter ⚠
- p.Ser251Cys Single submitter ⚠
- p.Ser256Tyr Single submitter ⚠
- p.Thr243Asn Single submitter ⚠
- p.Thr25Lys Single submitter ⚠
- p.Trp159Arg Single submitter ⚠
- p.Trp182Cys Single submitter ⚠
- p.Tyr255Phe Single submitter ⚠
- p.Tyr43Cys Single submitter ⚠
- p.Val213Ile Single submitter ⚠