EMCN — 38 ClinVar variants
All ClinVar germline EMCN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
2 Benign · 3 Likely benign · 33 Uncertain significance
Full EMCN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMCN p.Val243Ile Uncertain significance Multiple submitters
- EMCN p.Asn44Ile Uncertain significance Single submitter
- EMCN p.Asn67Tyr Uncertain significance Single submitter
- EMCN p.Asp99Asn Uncertain significance Single submitter
- EMCN p.Gln120Arg Uncertain significance Single submitter
- EMCN p.Gly58Ala Uncertain significance Single submitter
- EMCN p.His253Tyr Uncertain significance Single submitter
- EMCN p.Ile137Met Uncertain significance Single submitter
- EMCN p.Ile8Leu Uncertain significance Single submitter
- EMCN p.Leu209Val Uncertain significance Single submitter
- EMCN p.Leu4Phe Uncertain significance Single submitter
- EMCN p.Lys125Glu Uncertain significance Single submitter
- EMCN p.Pro224Ser Uncertain significance Single submitter
- EMCN p.Pro38Leu Uncertain significance Single submitter
- EMCN p.Ser140Gly Uncertain significance Single submitter
- EMCN p.Ser39Pro Uncertain significance Single submitter
- EMCN p.Thr126Asn Uncertain significance Single submitter
- EMCN p.Thr153Ala Uncertain significance Single submitter
- EMCN p.Thr153Ser Uncertain significance Single submitter
- EMCN p.Thr21Ala Uncertain significance Single submitter
- EMCN p.Thr82Ala Uncertain significance Single submitter
- EMCN p.Thr92Ala Uncertain significance Single submitter
- EMCN p.Val105Leu Uncertain significance Single submitter
- EMCN p.Val110Asp Uncertain significance Single submitter
- EMCN p.Val141Ala Uncertain significance Single submitter
- EMCN p.Val52Phe Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- EMCN p.Cys216Ser Uncertain significance Single submitter
- EMCN p.Glu236Lys Uncertain significance Single submitter
- EMCN p.Lys239Arg Uncertain significance Single submitter
- EMCN p.Pro221Leu Uncertain significance Single submitter
- EMCN p.Thr203Ile Uncertain significance Single submitter
- EMCN p.Val196Phe Uncertain significance Single submitter
All EMCN variants
Benign 2
- p.Val105Ile Multiple submitters
- p.Thr242= Single submitter
Likely benign 3
- p.Ala78Val Single submitter
- p.Ile40Val Single submitter
- p.Leu70Pro Single submitter
Uncertain significance 33
- p.Val243Ile Multiple submitters ⚠
- p.Asn44Ile Single submitter ⚠
- p.Asn67Tyr Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Cys216Ser Single submitter ⚠
- p.Gln120Arg Single submitter ⚠
- p.Glu236Lys Single submitter ⚠
- p.Gly58Ala Single submitter ⚠
- p.His253Tyr Single submitter ⚠
- p.Ile137Met Single submitter ⚠
- p.Ile8Leu Single submitter ⚠
- p.Leu209Val Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Lys125Glu Single submitter ⚠
- p.Lys239Arg Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Pro224Ser Single submitter ⚠
- p.Pro231Thr Single submitter
- p.Pro38Leu Single submitter ⚠
- p.Ser140Gly Single submitter ⚠
- p.Ser39Pro Single submitter ⚠
- p.Thr126Asn Single submitter ⚠
- p.Thr153Ala Single submitter ⚠
- p.Thr153Ser Single submitter ⚠
- p.Thr203Ile Single submitter ⚠
- p.Thr21Ala Single submitter ⚠
- p.Thr82Ala Single submitter ⚠
- p.Thr92Ala Single submitter ⚠
- p.Val105Leu Single submitter ⚠
- p.Val110Asp Single submitter ⚠
- p.Val141Ala Single submitter ⚠
- p.Val196Phe Single submitter ⚠
- p.Val52Phe Single submitter ⚠