EFCAB14 — 66 ClinVar variants
All ClinVar germline EFCAB14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
2 Likely benign · 64 Uncertain significance
Full EFCAB14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCAB14 p.Ala393Thr Uncertain significance Single submitter
- EFCAB14 p.Ala423Val Uncertain significance Single submitter
- EFCAB14 p.Ala87Val Uncertain significance Single submitter
- EFCAB14 p.Arg110Gln Uncertain significance Single submitter
- EFCAB14 p.Arg388Ser Uncertain significance Single submitter
- EFCAB14 p.Asn127Lys Uncertain significance Single submitter
- EFCAB14 p.Asn256Ser Uncertain significance Single submitter
- EFCAB14 p.Asn56Lys Uncertain significance Single submitter
- EFCAB14 p.Asp217Val Uncertain significance Single submitter
- EFCAB14 p.Asp255His Uncertain significance Single submitter
- EFCAB14 p.Glu144Asp Uncertain significance Single submitter
- EFCAB14 p.Glu297Lys Uncertain significance Single submitter
- EFCAB14 p.Glu391Gly Uncertain significance Single submitter
- EFCAB14 p.Gly190Glu Uncertain significance Single submitter
- EFCAB14 p.Gly52Arg Uncertain significance Single submitter
- EFCAB14 p.Gly90Cys Uncertain significance Single submitter
- EFCAB14 p.Ile152Val Uncertain significance Single submitter
- EFCAB14 p.Ile377Met Uncertain significance Single submitter
- EFCAB14 p.Leu207Ile Uncertain significance Single submitter
- EFCAB14 p.Leu207Phe Uncertain significance Single submitter
- EFCAB14 p.Lys159Thr Uncertain significance Single submitter
- EFCAB14 p.Lys23Arg Uncertain significance Single submitter
- EFCAB14 p.Lys322Glu Uncertain significance Single submitter
- EFCAB14 p.Lys359Arg Uncertain significance Single submitter
- EFCAB14 p.Lys373Arg Uncertain significance Single submitter
- EFCAB14 p.Lys410Glu Uncertain significance Single submitter
- EFCAB14 p.Met145Thr Uncertain significance Single submitter
- EFCAB14 p.Met230Val Uncertain significance Single submitter
- EFCAB14 p.Met295Ile Uncertain significance Single submitter
- EFCAB14 p.Pro248Arg Uncertain significance Single submitter
- EFCAB14 p.Pro37Leu Uncertain significance Single submitter
- EFCAB14 p.Pro427Arg Uncertain significance Single submitter
- EFCAB14 p.Ser119Ala Uncertain significance Single submitter
- EFCAB14 p.Ser228Asn Uncertain significance Single submitter
- EFCAB14 p.Ser378Gly Uncertain significance Single submitter
- EFCAB14 p.Ser429Phe Uncertain significance Single submitter
- EFCAB14 p.Thr34Pro Uncertain significance Single submitter
- EFCAB14 p.Thr381Ala Uncertain significance Single submitter
- EFCAB14 p.Thr446Ile Uncertain significance Single submitter
- EFCAB14 p.Tyr456Phe Uncertain significance Single submitter
- EFCAB14 p.Tyr65Cys Uncertain significance Single submitter
- EFCAB14 p.Val150Leu Uncertain significance Single submitter
- EFCAB14 p.Val205Ile Uncertain significance Single submitter
- EFCAB14 p.Val319Ala Uncertain significance Single submitter
- EFCAB14 p.Val450Leu Uncertain significance Single submitter
- EFCAB14 p.Val54Ala Uncertain significance Single submitter
- EFCAB14 p.Val92Leu Uncertain significance Single submitter
- EFCAB14 p.Val96Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- EFCAB14 p.Ala196Thr Uncertain significance Single submitter
- EFCAB14 p.Arg33Leu Uncertain significance Single submitter
- EFCAB14 p.Asn153Ile Uncertain significance Single submitter
- EFCAB14 p.Asn169Lys Uncertain significance Single submitter
- EFCAB14 p.Glu6Asp Uncertain significance Single submitter
- EFCAB14 p.Gly482Arg Uncertain significance Single submitter
- EFCAB14 p.His219Tyr Uncertain significance Single submitter
- EFCAB14 p.Leu105Phe Uncertain significance Single submitter
- EFCAB14 p.Leu270Val Uncertain significance Single submitter
- EFCAB14 p.Leu290Phe Uncertain significance Single submitter
- EFCAB14 p.Phe411Cys Uncertain significance Single submitter
- EFCAB14 p.Phe476Cys Uncertain significance Single submitter
- EFCAB14 p.Phe78Ile Uncertain significance Single submitter
- EFCAB14 p.Ser485Leu Uncertain significance Single submitter
- EFCAB14 p.Thr222Met Uncertain significance Single submitter
- EFCAB14 p.Tyr284Cys Uncertain significance Single submitter
All EFCAB14 variants
Likely benign 2
- p.Ile428Val Single submitter
- p.Thr186Ala Single submitter
Uncertain significance 64
- p.Ala196Thr Single submitter ⚠
- p.Ala393Thr Single submitter ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Arg110Gln Single submitter ⚠
- p.Arg33Leu Single submitter ⚠
- p.Arg388Ser Single submitter ⚠
- p.Asn127Lys Single submitter ⚠
- p.Asn153Ile Single submitter ⚠
- p.Asn169Lys Single submitter ⚠
- p.Asn256Ser Single submitter ⚠
- p.Asn56Lys Single submitter ⚠
- p.Asp217Val Single submitter ⚠
- p.Asp255His Single submitter ⚠
- p.Glu144Asp Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu391Gly Single submitter ⚠
- p.Glu6Asp Single submitter ⚠
- p.Gly190Glu Single submitter ⚠
- p.Gly482Arg Single submitter ⚠
- p.Gly52Arg Single submitter ⚠
- p.Gly90Cys Single submitter ⚠
- p.His219Tyr Single submitter ⚠
- p.Ile152Val Single submitter ⚠
- p.Ile377Met Single submitter ⚠
- p.Leu105Phe Single submitter ⚠
- p.Leu207Ile Single submitter ⚠
- p.Leu207Phe Single submitter ⚠
- p.Leu270Val Single submitter ⚠
- p.Leu290Phe Single submitter ⚠
- p.Lys159Thr Single submitter ⚠
- p.Lys23Arg Single submitter ⚠
- p.Lys322Glu Single submitter ⚠
- p.Lys359Arg Single submitter ⚠
- p.Lys373Arg Single submitter ⚠
- p.Lys410Glu Single submitter ⚠
- p.Met145Thr Single submitter ⚠
- p.Met230Val Single submitter ⚠
- p.Met295Ile Single submitter ⚠
- p.Phe411Cys Single submitter ⚠
- p.Phe476Cys Single submitter ⚠
- p.Phe78Ile Single submitter ⚠
- p.Pro248Arg Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro427Arg Single submitter ⚠
- p.Ser119Ala Single submitter ⚠
- p.Ser228Asn Single submitter ⚠
- p.Ser378Gly Single submitter ⚠
- p.Ser429Phe Single submitter ⚠
- p.Ser485Leu Single submitter ⚠
- p.Thr222Met Single submitter ⚠
- p.Thr34Pro Single submitter ⚠
- p.Thr381Ala Single submitter ⚠
- p.Thr446Ile Single submitter ⚠
- p.Tyr284Cys Single submitter ⚠
- p.Tyr456Phe Single submitter ⚠
- p.Tyr65Cys Single submitter ⚠
- p.Val150Leu Single submitter ⚠
- p.Val205Ile Single submitter ⚠
- p.Val319Ala Single submitter ⚠
- p.Val450Leu Single submitter ⚠
- p.Val54Ala Single submitter ⚠
- p.Val92Leu Single submitter ⚠
- p.Val96Ile Single submitter ⚠