ACBD3 — 69 ClinVar variants
All ClinVar germline ACBD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
1 Benign · 1 Likely benign · 67 Uncertain significance
Full ACBD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACBD3 p.Ala177Glu Uncertain significance Single submitter
- ACBD3 p.Ala177Val Uncertain significance Single submitter
- ACBD3 p.Ala3Thr Uncertain significance Single submitter
- ACBD3 p.Arg406Gln Uncertain significance Single submitter
- ACBD3 p.Arg516Gln Uncertain significance Single submitter
- ACBD3 p.Gln281Arg Uncertain significance Single submitter
- ACBD3 p.Glu24Gln Uncertain significance Single submitter
- ACBD3 p.Glu355Gly Uncertain significance Single submitter
- ACBD3 p.Glu455Asp Uncertain significance Single submitter
- ACBD3 p.Glu464Lys Uncertain significance Single submitter
- ACBD3 p.His341Gln Uncertain significance Single submitter
- ACBD3 p.Leu164Val Uncertain significance Single submitter
- ACBD3 p.Leu349Val Uncertain significance Single submitter
- ACBD3 p.Lys100Arg Uncertain significance Single submitter
- ACBD3 p.Lys163Arg Uncertain significance Single submitter
- ACBD3 p.Lys339Arg Uncertain significance Single submitter
- ACBD3 p.Lys468Glu Uncertain significance Single submitter
- ACBD3 p.Lys95Arg Uncertain significance Single submitter
- ACBD3 p.Met331Thr Uncertain significance Single submitter
- ACBD3 p.Met332Lys Uncertain significance Single submitter
- ACBD3 p.Pro45Ala Uncertain significance Single submitter
- ACBD3 p.Ser393Ala Uncertain significance Single submitter
- ACBD3 p.Ser54Pro Uncertain significance Single submitter
- ACBD3 p.Thr105Ala Uncertain significance Single submitter
- ACBD3 p.Val445Met Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- ACBD3 p.Ala371Val Uncertain significance Single submitter
- ACBD3 p.Ala442Asp Uncertain significance Single submitter
- ACBD3 p.Ala63Val Uncertain significance Single submitter
- ACBD3 p.Ala90Gly Uncertain significance Single submitter
- ACBD3 p.Ala90Thr Uncertain significance Single submitter
- ACBD3 p.Arg197Ser Uncertain significance Single submitter
- ACBD3 p.Arg198Gln Uncertain significance Single submitter
- ACBD3 p.Arg198Trp Uncertain significance Single submitter
- ACBD3 p.Arg199His Uncertain significance Single submitter
- ACBD3 p.Arg199Leu Uncertain significance Single submitter
- ACBD3 p.Arg199Pro Uncertain significance Single submitter
- ACBD3 p.Arg204Gly Uncertain significance Single submitter
- ACBD3 p.Arg206Cys Uncertain significance Single submitter
- ACBD3 p.Arg214His Uncertain significance Single submitter
- ACBD3 p.Arg216Gly Uncertain significance Single submitter
- ACBD3 p.Arg231Trp Uncertain significance Single submitter
- ACBD3 p.Asn269Ser Uncertain significance Single submitter
- ACBD3 p.Asn440Asp Uncertain significance Single submitter
- ACBD3 p.Asp98Gly Uncertain significance Single submitter
- ACBD3 p.Gln186Arg Uncertain significance Single submitter
- ACBD3 p.Gln208Pro Uncertain significance Single submitter
- ACBD3 p.Gln241His Uncertain significance Single submitter
- ACBD3 p.Gln242Arg Uncertain significance Single submitter
- ACBD3 p.Gln379Arg Uncertain significance Single submitter
- ACBD3 p.Glu240Ala Uncertain significance Single submitter
- ACBD3 p.Glu309Gly Uncertain significance Single submitter
- ACBD3 p.Glu455Lys Uncertain significance Single submitter
- ACBD3 p.Glu76Lys Uncertain significance Single submitter
- ACBD3 p.Ile246Val Uncertain significance Single submitter
- ACBD3 p.Ile427Val Uncertain significance Single submitter
- ACBD3 p.Leu416Ile Uncertain significance Single submitter
- ACBD3 p.Met247Val Uncertain significance Single submitter
- ACBD3 p.Pro21Leu Uncertain significance Single submitter
- ACBD3 p.Pro378Thr Uncertain significance Single submitter
- ACBD3 p.Pro40Ser Uncertain significance Single submitter
- ACBD3 p.Ser13Phe Uncertain significance Single submitter
- ACBD3 p.Ser438Pro Uncertain significance Single submitter
- ACBD3 p.Ser444Gly Uncertain significance Single submitter
- ACBD3 p.Val334Ile Uncertain significance Single submitter
- ACBD3 p.Val394Met Uncertain significance Single submitter
- ACBD3 p.Val402Ala Uncertain significance Single submitter
- ACBD3 p.Val482Leu Uncertain significance Single submitter
All ACBD3 variants
Benign 1
- p.Ala7= Single submitter
Likely benign 1
- p.Thr326Ala Single submitter
Uncertain significance 67
- p.Ala177Glu Single submitter ⚠
- p.Ala177Val Single submitter ⚠
- p.Ala371Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala442Asp Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala90Gly Single submitter ⚠
- p.Ala90Thr Single submitter ⚠
- p.Arg197Ser Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg198Trp Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg199Leu Single submitter ⚠
- p.Arg199Pro Single submitter ⚠
- p.Arg204Gly Single submitter ⚠
- p.Arg206Cys Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg216Gly Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg516Gln Single submitter ⚠
- p.Asn269Ser Single submitter ⚠
- p.Asn440Asp Single submitter ⚠
- p.Asp98Gly Single submitter ⚠
- p.Gln186Arg Single submitter ⚠
- p.Gln208Pro Single submitter ⚠
- p.Gln241His Single submitter ⚠
- p.Gln242Arg Single submitter ⚠
- p.Gln281Arg Single submitter ⚠
- p.Gln379Arg Single submitter ⚠
- p.Glu240Ala Single submitter ⚠
- p.Glu24Gln Single submitter ⚠
- p.Glu309Gly Single submitter ⚠
- p.Glu355Gly Single submitter ⚠
- p.Glu455Asp Single submitter ⚠
- p.Glu455Lys Single submitter ⚠
- p.Glu464Lys Single submitter ⚠
- p.Glu76Lys Single submitter ⚠
- p.His341Gln Single submitter ⚠
- p.Ile246Val Single submitter ⚠
- p.Ile427Val Single submitter ⚠
- p.Leu164Val Single submitter ⚠
- p.Leu349Val Single submitter ⚠
- p.Leu416Ile Single submitter ⚠
- p.Lys100Arg Single submitter ⚠
- p.Lys163Arg Single submitter ⚠
- p.Lys339Arg Single submitter ⚠
- p.Lys468Glu Single submitter ⚠
- p.Lys95Arg Single submitter ⚠
- p.Met247Val Single submitter ⚠
- p.Met331Thr Single submitter ⚠
- p.Met332Lys Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro378Thr Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Pro45Ala Single submitter ⚠
- p.Ser13Phe Single submitter ⚠
- p.Ser393Ala Single submitter ⚠
- p.Ser438Pro Single submitter ⚠
- p.Ser444Gly Single submitter ⚠
- p.Ser54Pro Single submitter ⚠
- p.Thr105Ala Single submitter ⚠
- p.Val334Ile Single submitter ⚠
- p.Val394Met Single submitter ⚠
- p.Val402Ala Single submitter ⚠
- p.Val445Met Single submitter ⚠
- p.Val482Leu Single submitter ⚠