ALKBH1 — 52 ClinVar variants
All ClinVar germline ALKBH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
2 Likely benign · 50 Uncertain significance
Full ALKBH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALKBH1 p.Ala348Gly Uncertain significance Single submitter
- ALKBH1 p.Ala48Val Uncertain significance Single submitter
- ALKBH1 p.Arg159Trp Uncertain significance Single submitter
- ALKBH1 p.Arg162Gln Uncertain significance Single submitter
- ALKBH1 p.Arg169His Uncertain significance Single submitter
- ALKBH1 p.Arg283Cys Uncertain significance Single submitter
- ALKBH1 p.Arg338Cys Uncertain significance Single submitter
- ALKBH1 p.Arg53Cys Uncertain significance Single submitter
- ALKBH1 p.Arg53His Uncertain significance Single submitter
- ALKBH1 p.Asn377Lys Uncertain significance Single submitter
- ALKBH1 p.Asn76Lys Uncertain significance Single submitter
- ALKBH1 p.Asp316Glu Uncertain significance Single submitter
- ALKBH1 p.Asp364Gly Uncertain significance Single submitter
- ALKBH1 p.Gln376His Uncertain significance Single submitter
- ALKBH1 p.Gln60Glu Uncertain significance Single submitter
- ALKBH1 p.Glu359Lys Uncertain significance Single submitter
- ALKBH1 p.His188Asp Uncertain significance Single submitter
- ALKBH1 p.His188Tyr Uncertain significance Single submitter
- ALKBH1 p.Ile44Met Uncertain significance Single submitter
- ALKBH1 p.Ile44Val Uncertain significance Single submitter
- ALKBH1 p.Leu119Pro Uncertain significance Single submitter
- ALKBH1 p.Leu284Pro Uncertain significance Single submitter
- ALKBH1 p.Lys64Thr Uncertain significance Single submitter
- ALKBH1 p.Met324Thr Uncertain significance Single submitter
- ALKBH1 p.Met341Val Uncertain significance Single submitter
- ALKBH1 p.Phe150Leu Uncertain significance Single submitter
- ALKBH1 p.Pro242Ser Uncertain significance Single submitter
- ALKBH1 p.Pro387Leu Uncertain significance Single submitter
- ALKBH1 p.Thr349Arg Uncertain significance Single submitter
- ALKBH1 p.Trp112Arg Uncertain significance Single submitter
- ALKBH1 p.Tyr222Cys Uncertain significance Single submitter
- ALKBH1 p.Val69Leu Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ALKBH1 p.Arg28His Uncertain significance Single submitter
- ALKBH1 p.Arg291Leu Uncertain significance Single submitter
- ALKBH1 p.Asp132Asn Uncertain significance Single submitter
- ALKBH1 p.Asp195Glu Uncertain significance Single submitter
- ALKBH1 p.Glu149Gln Uncertain significance Single submitter
- ALKBH1 p.Glu149Lys Uncertain significance Single submitter
- ALKBH1 p.Gly58Val Uncertain significance Single submitter
- ALKBH1 p.Leu199Ile Uncertain significance Single submitter
- ALKBH1 p.Pro314Leu Uncertain significance Single submitter
- ALKBH1 p.Ser71Cys Uncertain significance Single submitter
- ALKBH1 p.Ser86Gly Uncertain significance Single submitter
- ALKBH1 p.Thr13Ile Uncertain significance Single submitter
- ALKBH1 p.Thr157Ile Uncertain significance Single submitter
- ALKBH1 p.Trp327Cys Uncertain significance Single submitter
- ALKBH1 p.Tyr91Cys Uncertain significance Single submitter
- ALKBH1 p.Val11Met Uncertain significance Single submitter
- ALKBH1 p.Val62Met Uncertain significance Single submitter
- ALKBH1 p.Val8Leu Uncertain significance Single submitter
All ALKBH1 variants
Likely benign 2
- p.Arg213Gln Single submitter
- p.Thr16Ala Single submitter
Uncertain significance 50
- p.Ala348Gly Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Arg159Trp Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg283Cys Single submitter ⚠
- p.Arg28His Single submitter ⚠
- p.Arg291Leu Single submitter ⚠
- p.Arg338Cys Single submitter ⚠
- p.Arg53Cys Single submitter ⚠
- p.Arg53His Single submitter ⚠
- p.Asn377Lys Single submitter ⚠
- p.Asn76Lys Single submitter ⚠
- p.Asp132Asn Single submitter ⚠
- p.Asp195Glu Single submitter ⚠
- p.Asp316Glu Single submitter ⚠
- p.Asp364Gly Single submitter ⚠
- p.Gln376His Single submitter ⚠
- p.Gln60Glu Single submitter ⚠
- p.Glu149Gln Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu359Lys Single submitter ⚠
- p.Gly58Val Single submitter ⚠
- p.His188Asp Single submitter ⚠
- p.His188Tyr Single submitter ⚠
- p.Ile44Met Single submitter ⚠
- p.Ile44Val Single submitter ⚠
- p.Leu119Pro Single submitter ⚠
- p.Leu199Ile Single submitter ⚠
- p.Leu284Pro Single submitter ⚠
- p.Lys64Thr Single submitter ⚠
- p.Met324Thr Single submitter ⚠
- p.Met341Val Single submitter ⚠
- p.Phe150Leu Single submitter ⚠
- p.Pro242Ser Single submitter ⚠
- p.Pro314Leu Single submitter ⚠
- p.Pro387Leu Single submitter ⚠
- p.Ser71Cys Single submitter ⚠
- p.Ser86Gly Single submitter ⚠
- p.Thr13Ile Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr349Arg Single submitter ⚠
- p.Trp112Arg Single submitter ⚠
- p.Trp327Cys Single submitter ⚠
- p.Tyr222Cys Single submitter ⚠
- p.Tyr91Cys Single submitter ⚠
- p.Val11Met Single submitter ⚠
- p.Val62Met Single submitter ⚠
- p.Val69Leu Single submitter ⚠
- p.Val8Leu Single submitter ⚠