ABCD2 — 70 ClinVar variants
All ClinVar germline ABCD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
1 Benign/Likely benign · 2 Likely benign · 67 Uncertain significance
Full ABCD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCD2 p.Ala273Thr Uncertain significance Single submitter
- ABCD2 p.Ala489Glu Uncertain significance Single submitter
- ABCD2 p.Arg16Thr Uncertain significance Single submitter
- ABCD2 p.Arg337Cys Uncertain significance Single submitter
- ABCD2 p.Arg496Ser Uncertain significance Single submitter
- ABCD2 p.Arg684His Uncertain significance Single submitter
- ABCD2 p.Asp737Asn Uncertain significance Single submitter
- ABCD2 p.Glu70Lys Uncertain significance Single submitter
- ABCD2 p.Gly533Arg Uncertain significance Single submitter
- ABCD2 p.Gly598Glu Uncertain significance Single submitter
- ABCD2 p.Gly618Arg Uncertain significance Single submitter
- ABCD2 p.His663Gln Uncertain significance Single submitter
- ABCD2 p.Ile583Thr Uncertain significance Single submitter
- ABCD2 p.Ile692Val Uncertain significance Single submitter
- ABCD2 p.Lys13Thr Uncertain significance Single submitter
- ABCD2 p.Lys42Asn Uncertain significance Single submitter
- ABCD2 p.Met215Val Uncertain significance Single submitter
- ABCD2 p.Met342Thr Uncertain significance Single submitter
- ABCD2 p.Met713Ile Uncertain significance Single submitter
- ABCD2 p.Ser353Arg Uncertain significance Single submitter
- ABCD2 p.Ser556Arg Uncertain significance Single submitter
- ABCD2 p.Thr189Ser Uncertain significance Single submitter
- ABCD2 p.Thr739Ile Uncertain significance Single submitter
- ABCD2 p.Trp339Arg Uncertain significance Single submitter
- ABCD2 p.Trp599Cys Uncertain significance Single submitter
- ABCD2 p.Tyr323Cys Uncertain significance Single submitter
- ABCD2 p.Val136Met Uncertain significance Single submitter
- ABCD2 p.Val380Ile Uncertain significance Single submitter
- ABCD2 p.Val380Leu Uncertain significance Single submitter
- ABCD2 p.Val443Ile Uncertain significance Single submitter
- ABCD2 p.Val457Ala Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- ABCD2 p.Ala251Gly Uncertain significance Single submitter
- ABCD2 p.Arg178Cys Uncertain significance Single submitter
- ABCD2 p.Arg178His Uncertain significance Single submitter
- ABCD2 p.Arg385Gln Uncertain significance Single submitter
- ABCD2 p.Arg435Ser Uncertain significance Single submitter
- ABCD2 p.Arg582Cys Likely benign Single submitter
- ABCD2 p.Arg693His Uncertain significance Single submitter
- ABCD2 p.Asn394His Uncertain significance Single submitter
- ABCD2 p.Cys274Ser Uncertain significance Single submitter
- ABCD2 p.Gln714Lys Uncertain significance Single submitter
- ABCD2 p.Glu581Lys Uncertain significance Single submitter
- ABCD2 p.Gly126Cys Uncertain significance Single submitter
- ABCD2 p.Gly477Arg Uncertain significance Single submitter
- ABCD2 p.Gly574Ser Uncertain significance Single submitter
- ABCD2 p.Gly655Ala Uncertain significance Single submitter
- ABCD2 p.Ile122Met Uncertain significance Single submitter
- ABCD2 p.Ile472Met Uncertain significance Single submitter
- ABCD2 p.Ile641Thr Uncertain significance Single submitter
- ABCD2 p.Leu203Val Uncertain significance Single submitter
- ABCD2 p.Leu281Met Uncertain significance Single submitter
- ABCD2 p.Lys170Glu Uncertain significance Single submitter
- ABCD2 p.Lys289Arg Uncertain significance Single submitter
- ABCD2 p.Lys45Glu Uncertain significance Single submitter
- ABCD2 p.Lys470Thr Uncertain significance Single submitter
- ABCD2 p.Met348Leu Uncertain significance Single submitter
- ABCD2 p.Met617Ile Uncertain significance Single submitter
- ABCD2 p.Thr186Ile Uncertain significance Single submitter
- ABCD2 p.Tyr294His Uncertain significance Single submitter
- ABCD2 p.Tyr590Cys Uncertain significance Single submitter
- ABCD2 p.Val474Ala Uncertain significance Single submitter
- ABCD2 p.Val483Ile Uncertain significance Single submitter
- ABCD2 p.Val492Ala Uncertain significance Single submitter
- ABCD2 p.Val587Ile Uncertain significance Single submitter
- ABCD2 p.Val593Ala Uncertain significance Single submitter
- ABCD2 p.Val593Ile Uncertain significance Single submitter
- ABCD2 p.Val643Ile Uncertain significance Single submitter
- ABCD2 p.Lys98Glu Uncertain significance No assertion criteria
All ABCD2 variants
Benign/Likely benign 1
- c.1878-18G>C Multiple submitters
Likely benign 2
- p.Arg582Cys Single submitter ⚠
- p.Gly50Arg Single submitter
Uncertain significance 67
- p.Ala251Gly Single submitter ⚠
- p.Ala273Thr Single submitter ⚠
- p.Ala489Glu Single submitter ⚠
- p.Arg16Thr Single submitter ⚠
- p.Arg178Cys Single submitter ⚠
- p.Arg178His Single submitter ⚠
- p.Arg337Cys Single submitter ⚠
- p.Arg385Gln Single submitter ⚠
- p.Arg435Ser Single submitter ⚠
- p.Arg496Ser Single submitter ⚠
- p.Arg684His Single submitter ⚠
- p.Arg693His Single submitter ⚠
- p.Asn394His Single submitter ⚠
- p.Asp737Asn Single submitter ⚠
- p.Cys274Ser Single submitter ⚠
- p.Gln714Lys Single submitter ⚠
- p.Glu581Lys Single submitter ⚠
- p.Glu70Lys Single submitter ⚠
- p.Gly126Cys Single submitter ⚠
- p.Gly477Arg Single submitter ⚠
- p.Gly533Arg Single submitter ⚠
- p.Gly574Ser Single submitter ⚠
- p.Gly598Glu Single submitter ⚠
- p.Gly618Arg Single submitter ⚠
- p.Gly655Ala Single submitter ⚠
- p.His663Gln Single submitter ⚠
- p.Ile122Met Single submitter ⚠
- p.Ile472Met Single submitter ⚠
- p.Ile583Thr Single submitter ⚠
- p.Ile641Thr Single submitter ⚠
- p.Ile692Val Single submitter ⚠
- p.Leu203Val Single submitter ⚠
- p.Leu281Met Single submitter ⚠
- p.Lys13Thr Single submitter ⚠
- p.Lys170Glu Single submitter ⚠
- p.Lys289Arg Single submitter ⚠
- p.Lys42Asn Single submitter ⚠
- p.Lys45Glu Single submitter ⚠
- p.Lys470Thr Single submitter ⚠
- p.Met215Val Single submitter ⚠
- p.Met342Thr Single submitter ⚠
- p.Met348Leu Single submitter ⚠
- p.Met617Ile Single submitter ⚠
- p.Met713Ile Single submitter ⚠
- p.Ser353Arg Single submitter ⚠
- p.Ser556Arg Single submitter ⚠
- p.Thr186Ile Single submitter ⚠
- p.Thr189Ser Single submitter ⚠
- p.Thr739Ile Single submitter ⚠
- p.Trp339Arg Single submitter ⚠
- p.Trp599Cys Single submitter ⚠
- p.Tyr294His Single submitter ⚠
- p.Tyr323Cys Single submitter ⚠
- p.Tyr590Cys Single submitter ⚠
- p.Val136Met Single submitter ⚠
- p.Val380Ile Single submitter ⚠
- p.Val380Leu Single submitter ⚠
- p.Val443Ile Single submitter ⚠
- p.Val457Ala Single submitter ⚠
- p.Val474Ala Single submitter ⚠
- p.Val483Ile Single submitter ⚠
- p.Val492Ala Single submitter ⚠
- p.Val587Ile Single submitter ⚠
- p.Val593Ala Single submitter ⚠
- p.Val593Ile Single submitter ⚠
- p.Val643Ile Single submitter ⚠
- p.Lys98Glu No assertion criteria ⚠