ABCF2 — 20 ClinVar variants
All ClinVar germline ABCF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
20 Uncertain significance
Full ABCF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCF2 p.Arg113His Uncertain significance Single submitter
- ABCF2 p.Arg223His Uncertain significance Single submitter
- ABCF2 p.Asp166Asn Uncertain significance Single submitter
- ABCF2 p.Asp519Asn Uncertain significance Single submitter
- ABCF2 p.Gln399His Uncertain significance Single submitter
- ABCF2 p.Glu550Lys Uncertain significance Single submitter
- ABCF2 p.Met163Arg Uncertain significance Single submitter
- ABCF2 p.Met206Thr Uncertain significance Single submitter
- ABCF2 p.Trp584Cys Uncertain significance Single submitter
- ABCF2 p.Val511Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- ABCF2 p.Asp202Asn Uncertain significance Single submitter
- ABCF2 p.Glu373Asp Uncertain significance Single submitter
- ABCF2 p.Gly596Glu Uncertain significance Single submitter
- ABCF2 p.Ile499Leu Uncertain significance Single submitter
- ABCF2 p.Ile500Thr Uncertain significance Single submitter
- ABCF2 p.Lys18Arg Uncertain significance Single submitter
- ABCF2 p.Ser209Leu Uncertain significance Single submitter
- ABCF2 p.Thr104Ser Uncertain significance Single submitter
- ABCF2 p.Thr307Met Uncertain significance Single submitter
- ABCF2 p.Thr362Met Uncertain significance Single submitter
All ABCF2 variants
Uncertain significance 20
- p.Arg113His Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Asp166Asn Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp519Asn Single submitter ⚠
- p.Gln399His Single submitter ⚠
- p.Glu373Asp Single submitter ⚠
- p.Glu550Lys Single submitter ⚠
- p.Gly596Glu Single submitter ⚠
- p.Ile499Leu Single submitter ⚠
- p.Ile500Thr Single submitter ⚠
- p.Lys18Arg Single submitter ⚠
- p.Met163Arg Single submitter ⚠
- p.Met206Thr Single submitter ⚠
- p.Ser209Leu Single submitter ⚠
- p.Thr104Ser Single submitter ⚠
- p.Thr307Met Single submitter ⚠
- p.Thr362Met Single submitter ⚠
- p.Trp584Cys Single submitter ⚠
- p.Val511Met Single submitter ⚠