VDAC2 — 37 ClinVar variants
All ClinVar germline VDAC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Benign · 36 Uncertain significance
Full VDAC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- VDAC2 p.Ala19Val Uncertain significance Single submitter
- VDAC2 p.Ala281Thr Uncertain significance Single submitter
- VDAC2 p.Arg177Lys Uncertain significance Single submitter
- VDAC2 p.Asn179Asp Uncertain significance Single submitter
- VDAC2 p.Asp111Val Uncertain significance Single submitter
- VDAC2 p.Asp275Val Uncertain significance Single submitter
- VDAC2 p.Asp27Gly Uncertain significance Single submitter
- VDAC2 p.Gly187Glu Uncertain significance Single submitter
- VDAC2 p.Gly36Arg Uncertain significance Single submitter
- VDAC2 p.Ile102Met Uncertain significance Single submitter
- VDAC2 p.Ile279Val Uncertain significance Single submitter
- VDAC2 p.Leu270Phe Uncertain significance Single submitter
- VDAC2 p.Leu80Val Uncertain significance Single submitter
- VDAC2 p.Lys174Glu Uncertain significance Single submitter
- VDAC2 p.Met12Leu Uncertain significance Single submitter
- VDAC2 p.Met166Leu Uncertain significance Single submitter
- VDAC2 p.Phe201Ile Uncertain significance Single submitter
- VDAC2 p.Ser122Asn Uncertain significance Single submitter
- VDAC2 p.Ser173Ala Uncertain significance Single submitter
- VDAC2 p.Thr193Ile Uncertain significance Single submitter
- VDAC2 p.Thr269Lys Uncertain significance Single submitter
- VDAC2 p.Trp75Cys Uncertain significance Single submitter
- VDAC2 p.Tyr164Cys Uncertain significance Single submitter
- VDAC2 p.Val266Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- VDAC2 p.Arg229His Uncertain significance Single submitter
-
VDAC2 p.Asn196Ser
Uncertain significance
Single submitter
severe combined immunodeficiency
- VDAC2 p.Cys47Trp Uncertain significance Single submitter
- VDAC2 p.His150Arg Uncertain significance Single submitter
- VDAC2 p.Lys45Arg Uncertain significance Single submitter
All VDAC2 variants
Benign 1
- p.Asn196= Multiple submitters
Uncertain significance 36
- c.31+411A>G Single submitter
- c.31+413C>G Single submitter
- c.31+419T>A Single submitter
- c.31+421G>T Single submitter
- c.736-1G>A Single submitter
- p.Ala19Val Single submitter ⚠
- p.Ala281Thr Single submitter ⚠
- p.Arg177Lys Single submitter ⚠
- p.Arg229His Single submitter ⚠
- p.Asn179Asp Single submitter ⚠
- p.Asn196Ser Single submitter severe combined immunodeficiency ⚠
- p.Asp111Val Single submitter ⚠
- p.Asp188Asn Single submitter
- p.Asp275Val Single submitter ⚠
- p.Asp27Gly Single submitter ⚠
- p.Cys47Trp Single submitter ⚠
- p.Gly187Glu Single submitter ⚠
- p.Gly36Arg Single submitter ⚠
- p.His150Arg Single submitter ⚠
- p.Ile102Met Single submitter ⚠
- p.Ile279Val Single submitter ⚠
- p.Leu270Phe Single submitter ⚠
- p.Leu80Val Single submitter ⚠
- p.Lys174Glu Single submitter ⚠
- p.Lys45Arg Single submitter ⚠
- p.Met12Leu Single submitter ⚠
- p.Met166Leu Single submitter ⚠
- p.Phe201Ile Single submitter ⚠
- p.Ser122Asn Single submitter ⚠
- p.Ser173Ala Single submitter ⚠
- p.Thr193Ile Single submitter ⚠
- p.Thr269Lys Single submitter ⚠
- p.Thr83Ile Single submitter
- p.Trp75Cys Single submitter ⚠
- p.Tyr164Cys Single submitter ⚠
- p.Val266Met Single submitter ⚠