EFCAB7 — 72 ClinVar variants
All ClinVar germline EFCAB7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
2 Benign · 3 Likely benign · 67 Uncertain significance
Full EFCAB7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCAB7 p.Ala2Glu Uncertain significance Single submitter
- EFCAB7 p.Ala472Val Uncertain significance Single submitter
- EFCAB7 p.Ala9Thr Uncertain significance Single submitter
- EFCAB7 p.Arg203Trp Uncertain significance Single submitter
- EFCAB7 p.Arg461Gly Uncertain significance Single submitter
- EFCAB7 p.Arg475Gly Uncertain significance Single submitter
- EFCAB7 p.Asn265Asp Uncertain significance Single submitter
- EFCAB7 p.Asn310Lys Uncertain significance Single submitter
- EFCAB7 p.Asn339Asp Uncertain significance Single submitter
- EFCAB7 p.Asn589Asp Uncertain significance Single submitter
- EFCAB7 p.Asn70Ser Uncertain significance Single submitter
- EFCAB7 p.Asp204Val Uncertain significance Single submitter
- EFCAB7 p.Asp8Asn Uncertain significance Single submitter
- EFCAB7 p.Cys164Tyr Uncertain significance Single submitter
- EFCAB7 p.Gln271Arg Uncertain significance Single submitter
- EFCAB7 p.Gln59Lys Uncertain significance Single submitter
- EFCAB7 p.Glu198Gly Uncertain significance Single submitter
- EFCAB7 p.Glu198Lys Uncertain significance Single submitter
- EFCAB7 p.Glu347Lys Uncertain significance Single submitter
- EFCAB7 p.Glu413Ala Uncertain significance Single submitter
- EFCAB7 p.His487Gln Uncertain significance Single submitter
- EFCAB7 p.His520Arg Uncertain significance Single submitter
- EFCAB7 p.Ile197Val Uncertain significance Single submitter
- EFCAB7 p.Ile507Thr Uncertain significance Single submitter
- EFCAB7 p.Ile551Lys Uncertain significance Single submitter
- EFCAB7 p.Leu149Trp Uncertain significance Single submitter
- EFCAB7 p.Leu29Val Uncertain significance Single submitter
- EFCAB7 p.Leu309Phe Uncertain significance Single submitter
- EFCAB7 p.Leu309Ser Uncertain significance Single submitter
- EFCAB7 p.Leu537Ile Uncertain significance Single submitter
- EFCAB7 p.Lys162Glu Uncertain significance Single submitter
- EFCAB7 p.Lys402Glu Uncertain significance Single submitter
- EFCAB7 p.Lys455Glu Uncertain significance Single submitter
- EFCAB7 p.Lys511Thr Uncertain significance Single submitter
- EFCAB7 p.Met189Lys Uncertain significance Single submitter
- EFCAB7 p.Met262Ile Uncertain significance Single submitter
- EFCAB7 p.Met273Ile Uncertain significance Single submitter
- EFCAB7 p.Met273Thr Uncertain significance Single submitter
- EFCAB7 p.Met294Val Uncertain significance Single submitter
- EFCAB7 p.Met301Ile Uncertain significance Single submitter
- EFCAB7 p.Pro18Arg Uncertain significance Single submitter
- EFCAB7 p.Pro18Ser Uncertain significance Single submitter
- EFCAB7 p.Pro201Leu Uncertain significance Single submitter
- EFCAB7 p.Pro209Arg Uncertain significance Single submitter
- EFCAB7 p.Ser535Pro Uncertain significance Single submitter
- EFCAB7 p.Ser557Asn Uncertain significance Single submitter
- EFCAB7 p.Ser626Phe Uncertain significance Single submitter
- EFCAB7 p.Thr178Ile Uncertain significance Single submitter
- EFCAB7 p.Thr219Ala Uncertain significance Single submitter
- EFCAB7 p.Thr238Ala Uncertain significance Single submitter
- EFCAB7 p.Thr371Lys Uncertain significance Single submitter
- EFCAB7 p.Tyr292Asn Uncertain significance Single submitter
- EFCAB7 p.Val353Gly Uncertain significance Single submitter
- EFCAB7 p.Val414Ile Uncertain significance Single submitter
- EFCAB7 p.Val519Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All EFCAB7 variants
Benign 2
- p.Asp571Glu Multiple submitters
- p.Ser186Gly Multiple submitters
Likely benign 3
- p.Arg257Gln Single submitter
- p.Pro18Leu Single submitter
- p.Ser323= Single submitter
Uncertain significance 67
- p.Phe279Cys Multiple submitters
- c.1214+2_1214+4del Single submitter
- c.1350_1351del Single submitter postaxial polydactyly
- p.Ala2Glu Single submitter ⚠
- p.Ala472Val Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg203Trp Single submitter ⚠
- p.Arg461Gly Single submitter ⚠
- p.Arg475Gly Single submitter ⚠
- p.Asn265Asp Single submitter ⚠
- p.Asn310Lys Single submitter ⚠
- p.Asn339Asp Single submitter ⚠
- p.Asn589Asp Single submitter ⚠
- p.Asn70Ser Single submitter ⚠
- p.Asp204Val Single submitter ⚠
- p.Asp8Asn Single submitter ⚠
- p.Asp90Gly Single submitter ⚠
- p.Cys164Tyr Single submitter ⚠
- p.Gln271Arg Single submitter ⚠
- p.Gln59Lys Single submitter ⚠
- p.Glu198Gly Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu347Lys Single submitter ⚠
- p.Glu413Ala Single submitter ⚠
- p.Gly277fs Single submitter postaxial polydactyly
- p.Gly490Asp Single submitter ⚠
- p.His487Gln Single submitter ⚠
- p.His520Arg Single submitter ⚠
- p.Ile197Val Single submitter ⚠
- p.Ile306fs Single submitter
- p.Ile507Thr Single submitter ⚠
- p.Ile551Lys Single submitter ⚠
- p.Ile551Thr Single submitter
- p.Ile76Ser Single submitter
- p.Leu127Phe Single submitter ⚠
- p.Leu149Trp Single submitter ⚠
- p.Leu29Val Single submitter ⚠
- p.Leu309Phe Single submitter ⚠
- p.Leu309Ser Single submitter ⚠
- p.Leu537Ile Single submitter ⚠
- p.Lys162Glu Single submitter ⚠
- p.Lys402Glu Single submitter ⚠
- p.Lys455Glu Single submitter ⚠
- p.Lys511Thr Single submitter ⚠
- p.Met189Lys Single submitter ⚠
- p.Met262Ile Single submitter ⚠
- p.Met273Ile Single submitter ⚠
- p.Met273Thr Single submitter ⚠
- p.Met294Val Single submitter ⚠
- p.Met301Ile Single submitter ⚠
- p.Pro18Arg Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro201Leu Single submitter ⚠
- p.Pro209Arg Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Ser535Pro Single submitter ⚠
- p.Ser557Asn Single submitter ⚠
- p.Ser626Phe Single submitter ⚠
- p.Thr178Ile Single submitter ⚠
- p.Thr219Ala Single submitter ⚠
- p.Thr238Ala Single submitter ⚠
- p.Thr371Lys Single submitter ⚠
- p.Tyr292Asn Single submitter ⚠
- p.Val353Gly Single submitter ⚠
- p.Val414Ile Single submitter ⚠
- p.Val519Ile Single submitter ⚠
- p.Val536Phe Single submitter ⚠