ALKAL1 — 25 ClinVar variants
All ClinVar germline ALKAL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 24 Uncertain significance
Full ALKAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALKAL1 p.Ala17Val Uncertain significance Single submitter
- ALKAL1 p.Ala8Gly Uncertain significance Single submitter
- ALKAL1 p.Arg96Leu Uncertain significance Single submitter
- ALKAL1 p.Glu64Asp Uncertain significance Single submitter
- ALKAL1 p.Gly54Ser Uncertain significance Single submitter
- ALKAL1 p.Leu46Val Uncertain significance Single submitter
- ALKAL1 p.Pro11Ser Uncertain significance Single submitter
- ALKAL1 p.Pro22Ser Uncertain significance Single submitter
- ALKAL1 p.Pro42His Uncertain significance Single submitter
- ALKAL1 p.Pro57Arg Uncertain significance Single submitter
- ALKAL1 p.Pro83Leu Uncertain significance Single submitter
- ALKAL1 p.Ser87Leu Uncertain significance Single submitter
- ALKAL1 p.Val37Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ALKAL1 p.Ala12Ser Uncertain significance Single submitter
- ALKAL1 p.Ala51Val Uncertain significance Single submitter
- ALKAL1 p.Arg33Trp Uncertain significance Single submitter
- ALKAL1 p.Arg36Cys Uncertain significance Single submitter
- ALKAL1 p.Arg96Gln Uncertain significance Single submitter
- ALKAL1 p.Gly31Trp Uncertain significance Single submitter
- ALKAL1 p.His93Gln Uncertain significance Single submitter
- ALKAL1 p.Leu13Val Uncertain significance Single submitter
- ALKAL1 p.Pro88Gln Uncertain significance Single submitter
- ALKAL1 p.Ser60Phe Uncertain significance Single submitter
- ALKAL1 p.Thr56Ile Uncertain significance Single submitter
All ALKAL1 variants
Likely benign 1
- p.Pro3Leu Single submitter
Uncertain significance 24
- p.Ala12Ser Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala51Val Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg36Cys Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Arg96Leu Single submitter ⚠
- p.Glu64Asp Single submitter ⚠
- p.Gly31Trp Single submitter ⚠
- p.Gly54Ser Single submitter ⚠
- p.His93Gln Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu46Val Single submitter ⚠
- p.Pro11Ser Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro42His Single submitter ⚠
- p.Pro57Arg Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Pro88Gln Single submitter ⚠
- p.Ser60Phe Single submitter ⚠
- p.Ser87Leu Single submitter ⚠
- p.Thr56Ile Single submitter ⚠
- p.Val37Leu Single submitter ⚠