ABCF1 — 93 ClinVar variants

All ClinVar germline ABCF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

2 Benign · 8 Likely benign · 83 Uncertain significance

Full ABCF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 42

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 43

The independent predictors disagree with each other — read with care.

All ABCF1 variants

Benign 2

p.Arg396Gln Single submitter
p.Pro599Leu Single submitter

Likely benign 8

p.Arg702His Single submitter
p.Asn278Ser Single submitter
p.Asp25Glu Single submitter
p.Gln635Glu Single submitter
p.Lys177Arg Single submitter ⚠
p.Pro23Ala Single submitter
p.Val320Ile Single submitter ⚠
p.Arg759Trp No assertion criteria long QT syndrome ⚠

Uncertain significance 83

p.Ala117Thr Single submitter ⚠
p.Ala194Thr Single submitter ⚠
p.Ala221Thr Single submitter ⚠
p.Ala251Thr Single submitter ⚠
p.Ala276Val Single submitter ⚠
p.Ala328Asp Single submitter ⚠
p.Ala427Thr Single submitter ⚠
p.Ala598Gly Single submitter ⚠
p.Ala722Ser Single submitter ⚠
p.Ala791Gly Single submitter ⚠
p.Arg100Cys Single submitter ⚠
p.Arg121Cys Single submitter ⚠
p.Arg121His Single submitter ⚠
p.Arg294His Single submitter ⚠
p.Arg382Leu Single submitter ⚠
p.Arg587Gln Single submitter ⚠
p.Arg687Trp Single submitter ⚠
p.Arg723Cys Single submitter ⚠
p.Arg750Ter Single submitter
p.Arg800Gln Single submitter ⚠
p.Arg80Gln Single submitter ⚠
p.Asn162Ile Single submitter ⚠
p.Asn321Ser Single submitter ⚠
p.Asn351Thr Single submitter ⚠
p.Asn694Ser Single submitter ⚠
p.Asp110Val Single submitter ⚠
p.Asp247Gly Single submitter ⚠
p.Asp248Glu Single submitter ⚠
p.Asp592Asn Single submitter ⚠
p.Asp779Asn Single submitter ⚠
p.Asp78Gly Single submitter ⚠
p.Asp87Glu Single submitter ⚠
p.Asp91Ala Single submitter ⚠
p.Gln226Arg Single submitter ⚠
p.Gln288His Single submitter ⚠
p.Gln524Arg Single submitter ⚠
p.Glu13Asp Single submitter ⚠
p.Glu199Lys Single submitter ⚠
p.Glu205Lys Single submitter ⚠
p.Glu428Asp Single submitter ⚠
p.Glu552Gly Single submitter ⚠
p.Glu56Val Single submitter ⚠
p.Glu709Asp Single submitter ⚠
p.Glu813Val Single submitter ⚠
p.Glu845Lys Single submitter ⚠
p.Glu93Lys Single submitter ⚠
p.Gly122Arg Single submitter ⚠
p.Gly31Arg Single submitter ⚠
p.Gly531Ser Single submitter ⚠
p.Gly53Arg Single submitter ⚠
p.Gly633Val Single submitter ⚠
p.Gly82Ser Single submitter ⚠
p.Gly92Arg Single submitter ⚠
p.His527Arg Single submitter ⚠
p.His628Arg Single submitter ⚠
p.Ile37Met Single submitter ⚠
p.Ile775Val Single submitter ⚠
p.Leu253Phe Single submitter ⚠
p.Leu490Val Single submitter ⚠
p.Leu97Phe Single submitter ⚠
p.Lys124Glu Single submitter ⚠
p.Lys179Thr Single submitter ⚠
p.Lys340Gln Single submitter ⚠
p.Lys36Gln Single submitter ⚠
p.Lys414Glu Single submitter ⚠
p.Lys543Arg Single submitter ⚠
p.Lys62Arg Single submitter ⚠
p.Met291Ile Single submitter ⚠
p.Met682Val Single submitter ⚠
p.Pro153Arg Single submitter ⚠
p.Pro2Arg Single submitter ⚠
p.Pro677Leu Single submitter ⚠
p.Ser140Asn Single submitter ⚠
p.Ser166Cys Single submitter ⚠
p.Ser228Leu Single submitter ⚠
p.Ser816Asn Single submitter ⚠
p.Thr21Met Single submitter ⚠
p.Thr344Ala Single submitter ⚠
p.Thr40Met Single submitter ⚠
p.Thr449Ile Single submitter ⚠
p.Thr79Ile Single submitter ⚠
p.Thr805Ala Single submitter ⚠
p.Tyr529Cys Single submitter ⚠