EMC8 — 23 ClinVar variants
All ClinVar germline EMC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
23 Uncertain significance
Full EMC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMC8 p.Ala25Val Uncertain significance Single submitter
- EMC8 p.Ala32Val Uncertain significance Single submitter
- EMC8 p.Glu181Lys Uncertain significance Single submitter
- EMC8 p.Ile125Val Uncertain significance Single submitter
- EMC8 p.Leu29Pro Uncertain significance Single submitter
- EMC8 p.Lys83Thr Uncertain significance Single submitter
- EMC8 p.Phe61Leu Uncertain significance Single submitter
- EMC8 p.Pro165Leu Uncertain significance Single submitter
- EMC8 p.Pro37Ser Uncertain significance Single submitter
- EMC8 p.Pro47Ser Uncertain significance Single submitter
- EMC8 p.Thr52Ile Uncertain significance Single submitter
- EMC8 p.Trp151Ser Uncertain significance Single submitter
- EMC8 p.Val137Leu Uncertain significance Single submitter
- EMC8 p.Val88Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EMC8 p.Asp84Val Uncertain significance Single submitter
- EMC8 p.Gly3Trp Uncertain significance Single submitter
- EMC8 p.His85Arg Uncertain significance Single submitter
- EMC8 p.Leu53Phe Uncertain significance Single submitter
- EMC8 p.Lys100Asn Uncertain significance Single submitter
- EMC8 p.Pro200Thr Uncertain significance Single submitter
- EMC8 p.Ser173Leu Uncertain significance Single submitter
- EMC8 p.Thr122Pro Uncertain significance Single submitter
- EMC8 p.Val143Met Uncertain significance Single submitter
All EMC8 variants
Uncertain significance 23
- p.Ala25Val Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Asp84Val Single submitter ⚠
- p.Glu181Lys Single submitter ⚠
- p.Gly3Trp Single submitter ⚠
- p.His85Arg Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu53Phe Single submitter ⚠
- p.Lys100Asn Single submitter ⚠
- p.Lys83Thr Single submitter ⚠
- p.Phe61Leu Single submitter ⚠
- p.Pro165Leu Single submitter ⚠
- p.Pro200Thr Single submitter ⚠
- p.Pro37Ser Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Ser173Leu Single submitter ⚠
- p.Thr122Pro Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Trp151Ser Single submitter ⚠
- p.Val137Leu Single submitter ⚠
- p.Val143Met Single submitter ⚠
- p.Val88Met Single submitter ⚠