ACBD4 — 48 ClinVar variants
All ClinVar germline ACBD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
6 Likely benign · 42 Uncertain significance
Full ACBD4 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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACBD4 p.Ala72Thr Uncertain significance Single submitter
- ACBD4 p.Arg204Ser Uncertain significance Single submitter
- ACBD4 p.Cys157Arg Uncertain significance Single submitter
- ACBD4 p.Gln196Arg Uncertain significance Single submitter
- ACBD4 p.Glu195Asp Uncertain significance Single submitter
- ACBD4 p.Gly114Asp Uncertain significance Single submitter
- ACBD4 p.Gly2Asp Uncertain significance Single submitter
- ACBD4 p.Gly60Arg Uncertain significance Single submitter
- ACBD4 p.Gly77Val Uncertain significance Single submitter
- ACBD4 p.Ile23Phe Uncertain significance Single submitter
- ACBD4 p.Pro127Leu Uncertain significance Single submitter
- ACBD4 p.Pro210Leu Uncertain significance Single submitter
- ACBD4 p.Pro213Arg Uncertain significance Single submitter
- ACBD4 p.Ser35Phe Uncertain significance Single submitter
- ACBD4 p.Ser7Arg Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- ACBD4 p.Arg128Ser Uncertain significance Single submitter
- ACBD4 p.Arg204His Uncertain significance Single submitter
- ACBD4 p.Arg67Gln Uncertain significance Single submitter
- ACBD4 p.Gln13Arg Uncertain significance Single submitter
- ACBD4 p.Glu178Lys Likely benign Single submitter
- ACBD4 p.Glu4Gln Uncertain significance Single submitter
- ACBD4 p.Ile100Met Uncertain significance Single submitter
- ACBD4 p.Pro129Ser Uncertain significance Single submitter
- ACBD4 p.Pro130Ala Uncertain significance Single submitter
- ACBD4 p.Pro224Leu Likely benign Single submitter
- ACBD4 p.Pro34Ser Uncertain significance Single submitter
- ACBD4 p.Tyr36Cys Uncertain significance Single submitter
- ACBD4 p.Val152Ile Uncertain significance Single submitter
All ACBD4 variants
Likely benign 6
- p.Arg204Cys Single submitter
- p.Arg238Ter Single submitter
- p.Glu178Lys Single submitter ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro265Thr Single submitter
- p.Val149Ala Single submitter
Uncertain significance 42
- c.*20T>A Single submitter
- c.*27A>G Single submitter
- c.*38T>C Single submitter
- c.*3G>A Single submitter
- c.*51T>G Single submitter
- c.*54G>A Single submitter
- p.Ala282= Single submitter
- p.Ala282Glu Single submitter
- p.Ala72Thr Single submitter ⚠
- p.Arg128Ser Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg204Ser Single submitter ⚠
- p.Arg268Thr Single submitter
- p.Arg67Gln Single submitter ⚠
- p.Cys157Arg Single submitter ⚠
- p.Gln13Arg Single submitter ⚠
- p.Gln196Arg Single submitter ⚠
- p.Gln294Pro Single submitter
- p.Glu168= Single submitter
- p.Glu195Asp Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Gly114Asp Single submitter ⚠
- p.Gly280= Single submitter
- p.Gly2Asp Single submitter ⚠
- p.Gly60Arg Single submitter ⚠
- p.Gly77Val Single submitter ⚠
- p.Ile100Met Single submitter ⚠
- p.Ile23Phe Single submitter ⚠
- p.Leu287= Single submitter
- p.Pro127Leu Single submitter ⚠
- p.Pro129Ser Single submitter ⚠
- p.Pro130Ala Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro213Arg Single submitter ⚠
- p.Pro279= Single submitter
- p.Pro34Ser Single submitter ⚠
- p.Ser35Phe Single submitter ⚠
- p.Ser7Arg Single submitter ⚠
- p.Trp193Cys Single submitter
- p.Trp193Ter Single submitter
- p.Tyr36Cys Single submitter ⚠
- p.Val152Ile Single submitter ⚠