EFCAB9 — 28 ClinVar variants
All ClinVar germline EFCAB9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
28 Uncertain significance
Full EFCAB9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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.
- EFCAB9 p.Arg105His Uncertain significance Single submitter
- EFCAB9 p.Arg108Gln Uncertain significance Single submitter
- EFCAB9 p.Arg155Cys Uncertain significance Single submitter
- EFCAB9 p.Asp115Tyr Uncertain significance Single submitter
- EFCAB9 p.Gln101Arg Uncertain significance Single submitter
- EFCAB9 p.Glu140Ala Uncertain significance Single submitter
- EFCAB9 p.Gly77Asp Uncertain significance Single submitter
- EFCAB9 p.Leu172Ile Uncertain significance Single submitter
- EFCAB9 p.Leu48Val Uncertain significance Single submitter
- EFCAB9 p.Leu71Pro Uncertain significance Single submitter
- EFCAB9 p.Met129Ile Uncertain significance Single submitter
- EFCAB9 p.Met86Ile Uncertain significance Single submitter
- EFCAB9 p.Met90Val Uncertain significance Single submitter
- EFCAB9 p.Thr169Asn Uncertain significance Single submitter
- EFCAB9 p.Thr178Arg Uncertain significance Single submitter
- EFCAB9 p.Tyr32His Uncertain significance Single submitter
- EFCAB9 p.Val88Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- EFCAB9 p.Ala75Pro Uncertain significance Single submitter
- EFCAB9 p.Arg105Gly Uncertain significance Single submitter
- EFCAB9 p.Arg146Cys Uncertain significance Single submitter
- EFCAB9 p.Asn135Ser Uncertain significance Single submitter
- EFCAB9 p.Asp143Tyr Uncertain significance Single submitter
- EFCAB9 p.Gly6Ala Uncertain significance Single submitter
- EFCAB9 p.His39Gln Uncertain significance Single submitter
- EFCAB9 p.His94Asp Uncertain significance Single submitter
- EFCAB9 p.Leu133Ile Uncertain significance Single submitter
- EFCAB9 p.Met103Thr Uncertain significance Single submitter
- EFCAB9 p.Met70Ile Uncertain significance Single submitter
All EFCAB9 variants
Uncertain significance 28
- p.Ala75Pro Single submitter ⚠
- p.Arg105Gly Single submitter ⚠
- p.Arg105His Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg146Cys Single submitter ⚠
- p.Arg155Cys Single submitter ⚠
- p.Asn135Ser Single submitter ⚠
- p.Asp115Tyr Single submitter ⚠
- p.Asp143Tyr Single submitter ⚠
- p.Gln101Arg Single submitter ⚠
- p.Glu140Ala Single submitter ⚠
- p.Gly6Ala Single submitter ⚠
- p.Gly77Asp Single submitter ⚠
- p.His39Gln Single submitter ⚠
- p.His94Asp Single submitter ⚠
- p.Leu133Ile Single submitter ⚠
- p.Leu172Ile Single submitter ⚠
- p.Leu48Val Single submitter ⚠
- p.Leu71Pro Single submitter ⚠
- p.Met103Thr Single submitter ⚠
- p.Met129Ile Single submitter ⚠
- p.Met70Ile Single submitter ⚠
- p.Met86Ile Single submitter ⚠
- p.Met90Val Single submitter ⚠
- p.Thr169Asn Single submitter ⚠
- p.Thr178Arg Single submitter ⚠
- p.Tyr32His Single submitter ⚠
- p.Val88Leu Single submitter ⚠