EFCAB12 — 92 ClinVar variants
All ClinVar germline EFCAB12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
10 Likely benign · 82 Uncertain significance
Full EFCAB12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCAB12 p.Ala137Gly Uncertain significance Single submitter
- EFCAB12 p.Ala223Val Uncertain significance Single submitter
- EFCAB12 p.Ala277Ser Uncertain significance Single submitter
- EFCAB12 p.Ala39Thr Uncertain significance Single submitter
- EFCAB12 p.Ala453Thr Uncertain significance Single submitter
- EFCAB12 p.Ala542Val Uncertain significance Single submitter
- EFCAB12 p.Ala561Thr Uncertain significance Single submitter
- EFCAB12 p.Arg113Gln Uncertain significance Single submitter
- EFCAB12 p.Arg113Trp Uncertain significance Single submitter
- EFCAB12 p.Arg167Ser Uncertain significance Single submitter
- EFCAB12 p.Arg170Gln Uncertain significance Single submitter
- EFCAB12 p.Arg173Cys Uncertain significance Single submitter
- EFCAB12 p.Arg173Leu Uncertain significance Single submitter
- EFCAB12 p.Arg197Leu Uncertain significance Single submitter
- EFCAB12 p.Arg197Ser Uncertain significance Single submitter
- EFCAB12 p.Arg215Lys Uncertain significance Single submitter
- EFCAB12 p.Arg323Gln Uncertain significance Single submitter
- EFCAB12 p.Arg336Gln Uncertain significance Single submitter
- EFCAB12 p.Arg336Trp Uncertain significance Single submitter
- EFCAB12 p.Arg361His Uncertain significance Single submitter
- EFCAB12 p.Arg436Gln Uncertain significance Single submitter
- EFCAB12 p.Arg51Cys Uncertain significance Single submitter
- EFCAB12 p.Arg525Gln Uncertain significance Single submitter
- EFCAB12 p.Arg525Trp Uncertain significance Single submitter
- EFCAB12 p.Arg58Gln Uncertain significance Single submitter
- EFCAB12 p.Arg64Cys Uncertain significance Single submitter
- EFCAB12 p.Asn213Ser Uncertain significance Single submitter
- EFCAB12 p.Asn391Ser Uncertain significance Single submitter
- EFCAB12 p.Asp467Asn Uncertain significance Single submitter
- EFCAB12 p.Cys357Arg Uncertain significance Single submitter
- EFCAB12 p.Gln437Glu Uncertain significance Single submitter
- EFCAB12 p.Glu220Gly Uncertain significance Single submitter
- EFCAB12 p.Glu328Lys Uncertain significance Single submitter
- EFCAB12 p.Glu369Lys Uncertain significance Single submitter
- EFCAB12 p.Gly229Arg Uncertain significance Single submitter
- EFCAB12 p.Ile240Thr Uncertain significance Single submitter
- EFCAB12 p.Ile348Val Uncertain significance Single submitter
- EFCAB12 p.Ile384Thr Uncertain significance Single submitter
- EFCAB12 p.Ile95Thr Uncertain significance Single submitter
- EFCAB12 p.Leu359Pro Uncertain significance Single submitter
- EFCAB12 p.Leu452Gln Uncertain significance Single submitter
- EFCAB12 p.Lys163Arg Uncertain significance Single submitter
- EFCAB12 p.Lys263Glu Uncertain significance Single submitter
- EFCAB12 p.Lys307Glu Uncertain significance Single submitter
- EFCAB12 p.Lys65Glu Uncertain significance Single submitter
- EFCAB12 p.Met190Ile Uncertain significance Single submitter
- EFCAB12 p.Phe12Cys Uncertain significance Single submitter
- EFCAB12 p.Pro20Leu Uncertain significance Single submitter
- EFCAB12 p.Pro24Leu Uncertain significance Single submitter
- EFCAB12 p.Pro471Leu Uncertain significance Single submitter
- EFCAB12 p.Pro537Leu Uncertain significance Single submitter
- EFCAB12 p.Pro77Thr Uncertain significance Single submitter
- EFCAB12 p.Pro81Ala Uncertain significance Single submitter
- EFCAB12 p.Pro81Leu Uncertain significance Single submitter
- EFCAB12 p.Ser10Arg Uncertain significance Single submitter
- EFCAB12 p.Ser10Gly Uncertain significance Single submitter
- EFCAB12 p.Ser188Leu Uncertain significance Single submitter
- EFCAB12 p.Thr104Asn Uncertain significance Single submitter
- EFCAB12 p.Thr133Met Uncertain significance Single submitter
- EFCAB12 p.Thr158Ala Uncertain significance Single submitter
- EFCAB12 p.Thr261Ile Uncertain significance Single submitter
- EFCAB12 p.Thr312Met Uncertain significance Single submitter
- EFCAB12 p.Thr318Met Uncertain significance Single submitter
- EFCAB12 p.Thr55Ile Uncertain significance Single submitter
- EFCAB12 p.Thr69Ile Uncertain significance Single submitter
- EFCAB12 p.Tyr563Cys Uncertain significance Single submitter
- EFCAB12 p.Tyr5Cys Uncertain significance Single submitter
- EFCAB12 p.Val208Ala Uncertain significance Single submitter
- EFCAB12 p.Val31Ile Uncertain significance Single submitter
- EFCAB12 p.Val491Leu Uncertain significance Single submitter
-
EFCAB12 p.Leu13Phe
Uncertain significance
No assertion criteria
autism
Predictors split 11
The independent predictors disagree with each other — read with care.
- EFCAB12 p.Ala417Asp Uncertain significance Single submitter
- EFCAB12 p.Arg57Trp Uncertain significance Single submitter
- EFCAB12 p.Gly248Trp Uncertain significance Single submitter
- EFCAB12 p.Gly378Arg Uncertain significance Single submitter
- EFCAB12 p.Gly422Glu Uncertain significance Single submitter
- EFCAB12 p.Leu529Pro Uncertain significance Single submitter
- EFCAB12 p.Met190Thr Uncertain significance Single submitter
- EFCAB12 p.Pro36Arg Uncertain significance Single submitter
- EFCAB12 p.Pro507Leu Uncertain significance Single submitter
- EFCAB12 p.Ser118Pro Uncertain significance Single submitter
- EFCAB12 p.Tyr262Cys Uncertain significance Single submitter
All EFCAB12 variants
Likely benign 10
- p.Ala284Val Single submitter
- p.Arg478His Single submitter
- p.Glu145Lys Single submitter
- p.Glu183Lys Single submitter
- p.His195Arg Single submitter
- p.Ile240Val Single submitter
- p.Ser110Leu Single submitter
- p.Ser494Pro Single submitter
- p.Thr322Ala Single submitter
- p.Thr347Met Single submitter
Uncertain significance 82
- p.Ala137Gly Single submitter ⚠
- p.Ala223Val Single submitter ⚠
- p.Ala277Ser Single submitter ⚠
- p.Ala39Thr Single submitter ⚠
- p.Ala417Asp Single submitter ⚠
- p.Ala453Thr Single submitter ⚠
- p.Ala542Val Single submitter ⚠
- p.Ala561Thr Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg113Trp Single submitter ⚠
- p.Arg167Ser Single submitter ⚠
- p.Arg170Gln Single submitter ⚠
- p.Arg173Cys Single submitter ⚠
- p.Arg173Leu Single submitter ⚠
- p.Arg197Leu Single submitter ⚠
- p.Arg197Ser Single submitter ⚠
- p.Arg215Lys Single submitter ⚠
- p.Arg323Gln Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg361His Single submitter ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg51Cys Single submitter ⚠
- p.Arg525Gln Single submitter ⚠
- p.Arg525Trp Single submitter ⚠
- p.Arg57Trp Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Asn213Ser Single submitter ⚠
- p.Asn391Ser Single submitter ⚠
- p.Asp467Asn Single submitter ⚠
- p.Cys357Arg Single submitter ⚠
- p.Gln437Glu Single submitter ⚠
- p.Glu220Gly Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Glu369Lys Single submitter ⚠
- p.Gly229Arg Single submitter ⚠
- p.Gly248Trp Single submitter ⚠
- p.Gly378Arg Single submitter ⚠
- p.Gly422Glu Single submitter ⚠
- p.Ile240Thr Single submitter ⚠
- p.Ile348Val Single submitter ⚠
- p.Ile384Thr Single submitter ⚠
- p.Ile95Thr Single submitter ⚠
- p.Leu359Pro Single submitter ⚠
- p.Leu452Gln Single submitter ⚠
- p.Leu529Pro Single submitter ⚠
- p.Lys163Arg Single submitter ⚠
- p.Lys263Glu Single submitter ⚠
- p.Lys307Glu Single submitter ⚠
- p.Lys65Glu Single submitter ⚠
- p.Met190Ile Single submitter ⚠
- p.Met190Thr Single submitter ⚠
- p.Phe12Cys Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro36Arg Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Pro537Leu Single submitter ⚠
- p.Pro77Thr Single submitter ⚠
- p.Pro81Ala Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser10Arg Single submitter ⚠
- p.Ser10Gly Single submitter ⚠
- p.Ser118Pro Single submitter ⚠
- p.Ser188Leu Single submitter ⚠
- p.Thr104Asn Single submitter ⚠
- p.Thr133Met Single submitter ⚠
- p.Thr158Ala Single submitter ⚠
- p.Thr261Ile Single submitter ⚠
- p.Thr312Met Single submitter ⚠
- p.Thr318Met Single submitter ⚠
- p.Thr55Ile Single submitter ⚠
- p.Thr69Ile Single submitter ⚠
- p.Tyr262Cys Single submitter ⚠
- p.Tyr563Cys Single submitter ⚠
- p.Tyr5Cys Single submitter ⚠
- p.Val208Ala Single submitter ⚠
- p.Val31Ile Single submitter ⚠
- p.Val491Leu Single submitter ⚠
- p.Leu13Phe No assertion criteria autism ⚠