EMC9 — 30 ClinVar variants
All ClinVar germline EMC9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Likely benign · 29 Uncertain significance
Full EMC9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMC9 p.Ala86Val Uncertain significance Single submitter
- EMC9 p.Arg126Pro Uncertain significance Single submitter
- EMC9 p.Arg167Gly Uncertain significance Single submitter
- EMC9 p.Arg183Gln Uncertain significance Single submitter
- EMC9 p.Asp68Tyr Uncertain significance Single submitter
- EMC9 p.Cys40Gly Uncertain significance Single submitter
- EMC9 p.Gln170Glu Uncertain significance Single submitter
- EMC9 p.Glu165Gln Uncertain significance Single submitter
- EMC9 p.His169Tyr Uncertain significance Single submitter
- EMC9 p.His51Pro Uncertain significance Single submitter
- EMC9 p.Leu172Arg Uncertain significance Single submitter
- EMC9 p.Leu76Pro Uncertain significance Single submitter
- EMC9 p.Pro123Ser Uncertain significance Single submitter
- EMC9 p.Trp70Arg Uncertain significance Single submitter
- EMC9 p.Trp70Ser Uncertain significance Single submitter
- EMC9 p.Val26Gly Uncertain significance Single submitter
- EMC9 p.Val62Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- EMC9 p.Arg126Cys Uncertain significance Single submitter
- EMC9 p.Arg139Leu Uncertain significance Single submitter
- EMC9 p.Arg167Trp Uncertain significance Single submitter
- EMC9 p.Gln158His Uncertain significance Single submitter
- EMC9 p.Glu155Asp Uncertain significance Single submitter
- EMC9 p.Glu39Lys Uncertain significance Single submitter
- EMC9 p.Gly38Arg Uncertain significance Single submitter
- EMC9 p.Ile100Thr Uncertain significance Single submitter
- EMC9 p.Ile114Thr Uncertain significance Single submitter
- EMC9 p.Leu179Ile Uncertain significance Single submitter
- EMC9 p.Met149Thr Uncertain significance Single submitter
- EMC9 p.Val132Ile Uncertain significance Single submitter
All EMC9 variants
Likely benign 1
- p.Arg126His Single submitter
Uncertain significance 29
- p.Ala86Val Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg126Pro Single submitter ⚠
- p.Arg139Leu Single submitter ⚠
- p.Arg167Gly Single submitter ⚠
- p.Arg167Trp Single submitter ⚠
- p.Arg183Gln Single submitter ⚠
- p.Asp68Tyr Single submitter ⚠
- p.Cys40Gly Single submitter ⚠
- p.Gln158His Single submitter ⚠
- p.Gln170Glu Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu165Gln Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.His169Tyr Single submitter ⚠
- p.His51Pro Single submitter ⚠
- p.Ile100Thr Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Leu172Arg Single submitter ⚠
- p.Leu179Ile Single submitter ⚠
- p.Leu76Pro Single submitter ⚠
- p.Met149Thr Single submitter ⚠
- p.Pro123Ser Single submitter ⚠
- p.Trp70Arg Single submitter ⚠
- p.Trp70Ser Single submitter ⚠
- p.Val132Ile Single submitter ⚠
- p.Val26Gly Single submitter ⚠
- p.Val62Ile Single submitter ⚠