EFCAB13 — 139 ClinVar variants
All ClinVar germline EFCAB13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
19 Benign · 17 Likely benign · 103 Uncertain significance
Full EFCAB13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
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 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCAB13 p.Ala453Val Uncertain significance Single submitter
- EFCAB13 p.Ala668Asp Uncertain significance Single submitter
- EFCAB13 p.Ala680Val Uncertain significance Single submitter
- EFCAB13 p.Ala750Ser Uncertain significance Single submitter
- EFCAB13 p.Arg185Gln Uncertain significance Single submitter
- EFCAB13 p.Arg236Gln Uncertain significance Single submitter
- EFCAB13 p.Arg255Cys Uncertain significance Single submitter
- EFCAB13 p.Arg666Cys Uncertain significance Single submitter
- EFCAB13 p.Asn126Asp Uncertain significance Single submitter
- EFCAB13 p.Asn742Ser Uncertain significance Single submitter
- EFCAB13 p.Asn759Tyr Uncertain significance Single submitter
- EFCAB13 p.Asn798Thr Uncertain significance Single submitter
- EFCAB13 p.Asn943His Uncertain significance Single submitter
- EFCAB13 p.Asn955Ser Uncertain significance Single submitter
- EFCAB13 p.Asp19Glu Uncertain significance Single submitter
- EFCAB13 p.Asp247His Uncertain significance Single submitter
- EFCAB13 p.Asp611Tyr Uncertain significance Single submitter
- EFCAB13 p.Asp682His Uncertain significance Single submitter
- EFCAB13 p.Asp682Val Uncertain significance Single submitter
- EFCAB13 p.Asp722Gly Uncertain significance Single submitter
- EFCAB13 p.Asp772Asn Uncertain significance Single submitter
- EFCAB13 p.Asp796Gly Uncertain significance Single submitter
- EFCAB13 p.Cys230Arg Uncertain significance Single submitter
- EFCAB13 p.Cys913Phe Uncertain significance Single submitter
- EFCAB13 p.Gln654Lys Uncertain significance Single submitter
- EFCAB13 p.Gln675Arg Uncertain significance Single submitter
- EFCAB13 p.Gln887Arg Uncertain significance Single submitter
- EFCAB13 p.Glu47Ala Uncertain significance Single submitter
- EFCAB13 p.Glu49Val Uncertain significance Single submitter
- EFCAB13 p.Glu547Lys Uncertain significance Single submitter
- EFCAB13 p.Glu615Lys Uncertain significance Single submitter
- EFCAB13 p.Glu763Gly Uncertain significance Single submitter
- EFCAB13 p.Gly506Arg Uncertain significance Single submitter
- EFCAB13 p.His167Asp Uncertain significance Single submitter
- EFCAB13 p.His175Arg Uncertain significance Single submitter
- EFCAB13 p.His401Arg Uncertain significance Single submitter
- EFCAB13 p.His401Tyr Uncertain significance Single submitter
- EFCAB13 p.His879Arg Uncertain significance Single submitter
- EFCAB13 p.His954Asp Uncertain significance Single submitter
- EFCAB13 p.Ile232Met Uncertain significance Single submitter
- EFCAB13 p.Ile275Val Uncertain significance Single submitter
- EFCAB13 p.Ile303Val Uncertain significance Single submitter
- EFCAB13 p.Ile464Leu Uncertain significance Single submitter
- EFCAB13 p.Ile536Thr Uncertain significance Single submitter
- EFCAB13 p.Ile835Met Uncertain significance Single submitter
- EFCAB13 p.Leu121Ser Uncertain significance Single submitter
- EFCAB13 p.Leu137Val Uncertain significance Single submitter
- EFCAB13 p.Leu282Met Uncertain significance Single submitter
- EFCAB13 p.Leu325Met Uncertain significance Single submitter
- EFCAB13 p.Leu431Arg Uncertain significance Single submitter
- EFCAB13 p.Leu553Pro Uncertain significance Single submitter
- EFCAB13 p.Leu814Ile Uncertain significance Single submitter
- EFCAB13 p.Leu897Phe Uncertain significance Single submitter
- EFCAB13 p.Lys132Gln Uncertain significance Single submitter
- EFCAB13 p.Lys397Arg Uncertain significance Single submitter
- EFCAB13 p.Lys495Asn Uncertain significance Single submitter
- EFCAB13 p.Lys712Arg Uncertain significance Single submitter
- EFCAB13 p.Lys762Arg Uncertain significance Single submitter
- EFCAB13 p.Lys775Thr Uncertain significance Single submitter
- EFCAB13 p.Met507Ile Uncertain significance Single submitter
- EFCAB13 p.Met589Val Uncertain significance Single submitter
- EFCAB13 p.Met688Val Uncertain significance Single submitter
- EFCAB13 p.Met724Thr Uncertain significance Single submitter
- EFCAB13 p.Met731Thr Uncertain significance Single submitter
- EFCAB13 p.Phe369Cys Uncertain significance Single submitter
- EFCAB13 p.Phe582Val Uncertain significance Single submitter
- EFCAB13 p.Phe797Val Uncertain significance Single submitter
- EFCAB13 p.Phe973Ile Uncertain significance Single submitter
- EFCAB13 p.Pro136Ser Uncertain significance Single submitter
- EFCAB13 p.Pro524Ser Uncertain significance Single submitter
- EFCAB13 p.Pro52Leu Uncertain significance Single submitter
- EFCAB13 p.Pro59Gln Uncertain significance Single submitter
- EFCAB13 p.Pro877Ser Uncertain significance Single submitter
- EFCAB13 p.Pro877Thr Uncertain significance Single submitter
- EFCAB13 p.Pro900Ser Uncertain significance Single submitter
- EFCAB13 p.Ser172Asn Uncertain significance Single submitter
- EFCAB13 p.Ser269Asn Uncertain significance Single submitter
- EFCAB13 p.Ser324Asn Uncertain significance Single submitter
- EFCAB13 p.Ser423Ile Uncertain significance Single submitter
- EFCAB13 p.Ser426Cys Uncertain significance Single submitter
- EFCAB13 p.Ser440Pro Uncertain significance Single submitter
- EFCAB13 p.Ser447Leu Uncertain significance Single submitter
- EFCAB13 p.Ser448Phe Uncertain significance Single submitter
- EFCAB13 p.Ser931Leu Uncertain significance Single submitter
- EFCAB13 p.Thr239Ala Uncertain significance Single submitter
- EFCAB13 p.Thr449Met Uncertain significance Single submitter
- EFCAB13 p.Thr456Ile Uncertain significance Single submitter
- EFCAB13 p.Thr593Met Uncertain significance Single submitter
- EFCAB13 p.Thr616Met Uncertain significance Single submitter
- EFCAB13 p.Thr625Ala Uncertain significance Single submitter
- EFCAB13 p.Thr833Ile Uncertain significance Single submitter
- EFCAB13 p.Thr839Ile Uncertain significance Single submitter
- EFCAB13 p.Tyr154Cys Uncertain significance Single submitter
- EFCAB13 p.Tyr346Phe Uncertain significance Single submitter
- EFCAB13 p.Tyr384His Uncertain significance Single submitter
- EFCAB13 p.Tyr923Phe Uncertain significance Single submitter
- EFCAB13 p.Val261Ala Uncertain significance Single submitter
- EFCAB13 p.Val436Ile Uncertain significance Single submitter
- EFCAB13 p.Val86Leu Uncertain significance Single submitter
- EFCAB13 p.Val93Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All EFCAB13 variants
Benign 19
- c.1945+4_1945+7del No assertion criteria EFCAB13-related disorder
- c.806-1G>A No assertion criteria EFCAB13-related disorder
- p.Arg211Ter No assertion criteria EFCAB13-related disorder
- p.Arg236Ter No assertion criteria EFCAB13-related disorder
- p.Asn805= No assertion criteria EFCAB13-related disorder
- p.Asn968= No assertion criteria EFCAB13-related disorder
- p.Asp541Val No assertion criteria EFCAB13-related disorder ⚠
- p.Asp611Asn No assertion criteria EFCAB13-related disorder
- p.Gln381= No assertion criteria EFCAB13-related disorder
- p.Gly650fs No assertion criteria EFCAB13-related disorder
- p.Ile279Val No assertion criteria EFCAB13-related disorder
- p.Lys113= No assertion criteria EFCAB13-related disorder
- p.Phe797= No assertion criteria EFCAB13-related disorder
- p.Ser894= No assertion criteria EFCAB13-related disorder
- p.Thr33Ile No assertion criteria EFCAB13-related disorder
- p.Thr551Ala No assertion criteria EFCAB13-related disorder
- p.Thr593= No assertion criteria EFCAB13-related disorder
- p.Tyr546Ter No assertion criteria EFCAB13-related disorder
- p.Val312Ile No assertion criteria EFCAB13-related disorder
Likely benign 17
- p.Arg521Gln Single submitter
- p.Arg663Lys Single submitter
- p.Arg666His Single submitter
- p.Asp780Asn Single submitter
- p.Glu83Gly Single submitter
- p.Gly531Asp Single submitter
- p.Gly575Asp Single submitter
- p.Gly82Val Single submitter
- p.Ile69Val Single submitter
- p.Leu18= Single submitter
- p.Val806Ile Single submitter
- c.1802-9A>G No assertion criteria EFCAB13-related disorder
- p.Asp511fs No assertion criteria EFCAB13-related disorder
- p.Gln344= No assertion criteria EFCAB13-related disorder
- p.His175= No assertion criteria EFCAB13-related disorder
- p.Lys433Ter No assertion criteria EFCAB13-related disorder
- p.Thr616= No assertion criteria EFCAB13-related disorder
Uncertain significance 103
- p.Ala453Val Single submitter ⚠
- p.Ala605Gly Single submitter ⚠
- p.Ala668Asp Single submitter ⚠
- p.Ala680Val Single submitter ⚠
- p.Ala750Ser Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg255Cys Single submitter ⚠
- p.Arg666Cys Single submitter ⚠
- p.Asn126Asp Single submitter ⚠
- p.Asn742Ser Single submitter ⚠
- p.Asn759Tyr Single submitter ⚠
- p.Asn798Thr Single submitter ⚠
- p.Asn943His Single submitter ⚠
- p.Asn955Ser Single submitter ⚠
- p.Asp19Glu Single submitter ⚠
- p.Asp247His Single submitter ⚠
- p.Asp611Tyr Single submitter ⚠
- p.Asp682His Single submitter ⚠
- p.Asp682Val Single submitter ⚠
- p.Asp722Gly Single submitter ⚠
- p.Asp772Asn Single submitter ⚠
- p.Asp796Gly Single submitter ⚠
- p.Asp816Tyr Single submitter ⚠
- p.Cys230Arg Single submitter ⚠
- p.Cys913Phe Single submitter ⚠
- p.Gln654Lys Single submitter ⚠
- p.Gln675Arg Single submitter ⚠
- p.Gln887Arg Single submitter ⚠
- p.Glu47Ala Single submitter ⚠
- p.Glu49Val Single submitter ⚠
- p.Glu547Lys Single submitter ⚠
- p.Glu615Lys Single submitter ⚠
- p.Glu763Gly Single submitter ⚠
- p.Gly506Arg Single submitter ⚠
- p.His167Asp Single submitter ⚠
- p.His175Arg Single submitter ⚠
- p.His401Arg Single submitter ⚠
- p.His401Tyr Single submitter ⚠
- p.His879Arg Single submitter ⚠
- p.His954Asp Single submitter ⚠
- p.Ile232Met Single submitter ⚠
- p.Ile275Val Single submitter ⚠
- p.Ile303Val Single submitter ⚠
- p.Ile464Leu Single submitter ⚠
- p.Ile536Thr Single submitter ⚠
- p.Ile835Met Single submitter ⚠
- p.Leu121Ser Single submitter ⚠
- p.Leu137Val Single submitter ⚠
- p.Leu282Met Single submitter ⚠
- p.Leu325Met Single submitter ⚠
- p.Leu431Arg Single submitter ⚠
- p.Leu553Pro Single submitter ⚠
- p.Leu814Ile Single submitter ⚠
- p.Leu897Phe Single submitter ⚠
- p.Lys132Gln Single submitter ⚠
- p.Lys397Arg Single submitter ⚠
- p.Lys495Asn Single submitter ⚠
- p.Lys712Arg Single submitter ⚠
- p.Lys762Arg Single submitter ⚠
- p.Lys775Thr Single submitter ⚠
- p.Met507Ile Single submitter ⚠
- p.Met589Val Single submitter ⚠
- p.Met688Val Single submitter ⚠
- p.Met724Thr Single submitter ⚠
- p.Met731Thr Single submitter ⚠
- p.Phe369Cys Single submitter ⚠
- p.Phe582Val Single submitter ⚠
- p.Phe797Val Single submitter ⚠
- p.Phe973Ile Single submitter ⚠
- p.Pro136Ser Single submitter ⚠
- p.Pro524Ser Single submitter ⚠
- p.Pro52Leu Single submitter ⚠
- p.Pro59Gln Single submitter ⚠
- p.Pro756Ser Single submitter ⚠
- p.Pro877Ser Single submitter ⚠
- p.Pro877Thr Single submitter ⚠
- p.Pro900Ser Single submitter ⚠
- p.Ser172Asn Single submitter ⚠
- p.Ser269Asn Single submitter ⚠
- p.Ser324Asn Single submitter ⚠
- p.Ser423Ile Single submitter ⚠
- p.Ser426Cys Single submitter ⚠
- p.Ser440Pro Single submitter ⚠
- p.Ser447Leu Single submitter ⚠
- p.Ser448Phe Single submitter ⚠
- p.Ser931Leu Single submitter ⚠
- p.Thr239Ala Single submitter ⚠
- p.Thr449Met Single submitter ⚠
- p.Thr456Ile Single submitter ⚠
- p.Thr593Met Single submitter ⚠
- p.Thr616Met Single submitter ⚠
- p.Thr625Ala Single submitter ⚠
- p.Thr833Ile Single submitter ⚠
- p.Thr839Ile Single submitter ⚠
- p.Tyr154Cys Single submitter ⚠
- p.Tyr346Phe Single submitter ⚠
- p.Tyr384His Single submitter ⚠
- p.Tyr923Phe Single submitter ⚠
- p.Val261Ala Single submitter ⚠
- p.Val436Ile Single submitter ⚠
- p.Val86Leu Single submitter ⚠
- p.Val93Ile Single submitter ⚠