ALKAL2 — 34 ClinVar variants
All ClinVar germline ALKAL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
2 Likely benign · 32 Uncertain significance
Full ALKAL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALKAL2 p.Ala19Val Uncertain significance Single submitter
- ALKAL2 p.Ala26Pro Uncertain significance Single submitter
- ALKAL2 p.Arg140Trp Uncertain significance Single submitter
- ALKAL2 p.Arg29Gln Uncertain significance Single submitter
- ALKAL2 p.Arg64Gln Uncertain significance Single submitter
- ALKAL2 p.Asp150Asn Uncertain significance Single submitter
- ALKAL2 p.Asp95Glu Uncertain significance Single submitter
- ALKAL2 p.Cys147Tyr Uncertain significance Single submitter
- ALKAL2 p.Gln35Arg Uncertain significance Single submitter
- ALKAL2 p.Gln60Arg Uncertain significance Single submitter
- ALKAL2 p.Glu149Ala Uncertain significance Single submitter
- ALKAL2 p.Gly3Arg Uncertain significance Single submitter
- ALKAL2 p.Gly58Ser Uncertain significance Single submitter
- ALKAL2 p.Gly75Ala Uncertain significance Single submitter
- ALKAL2 p.Leu101Ile Uncertain significance Single submitter
- ALKAL2 p.Leu68Val Uncertain significance Single submitter
- ALKAL2 p.Lys57Glu Uncertain significance Single submitter
- ALKAL2 p.Met148Leu Uncertain significance Single submitter
- ALKAL2 p.Pro31Arg Uncertain significance Single submitter
- ALKAL2 p.Pro78Ser Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ALKAL2 p.Ala18Thr Uncertain significance Single submitter
- ALKAL2 p.Arg23Pro Uncertain significance Single submitter
- ALKAL2 p.Arg2Cys Uncertain significance Single submitter
- ALKAL2 p.Arg39Trp Uncertain significance Single submitter
- ALKAL2 p.Gly25Cys Uncertain significance Single submitter
- ALKAL2 p.Gly25Val Uncertain significance Single submitter
- ALKAL2 p.His100Leu Uncertain significance Single submitter
- ALKAL2 p.His120Tyr Uncertain significance Single submitter
- ALKAL2 p.His56Tyr Uncertain significance Single submitter
- ALKAL2 p.Leu62Phe Uncertain significance Single submitter
- ALKAL2 p.Leu9Phe Uncertain significance Single submitter
- ALKAL2 p.Ser53Trp Uncertain significance Single submitter
All ALKAL2 variants
Likely benign 2
- p.Arg92= Single submitter
- p.Gly34Arg Single submitter
Uncertain significance 32
- p.Ala18Thr Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala26Pro Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg23Pro Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg2Cys Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg64Gln Single submitter ⚠
- p.Asp150Asn Single submitter ⚠
- p.Asp95Glu Single submitter ⚠
- p.Cys147Tyr Single submitter ⚠
- p.Gln35Arg Single submitter ⚠
- p.Gln60Arg Single submitter ⚠
- p.Glu149Ala Single submitter ⚠
- p.Gly25Cys Single submitter ⚠
- p.Gly25Val Single submitter ⚠
- p.Gly3Arg Single submitter ⚠
- p.Gly58Ser Single submitter ⚠
- p.Gly75Ala Single submitter ⚠
- p.His100Leu Single submitter ⚠
- p.His120Tyr Single submitter ⚠
- p.His56Tyr Single submitter ⚠
- p.Leu101Ile Single submitter ⚠
- p.Leu62Phe Single submitter ⚠
- p.Leu68Val Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys57Glu Single submitter ⚠
- p.Met148Leu Single submitter ⚠
- p.Pro31Arg Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser53Trp Single submitter ⚠