AKIRIN1 — 26 ClinVar variants
All ClinVar germline AKIRIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Benign · 1 Likely benign · 24 Uncertain significance
Full AKIRIN1 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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKIRIN1 p.Arg26Trp Uncertain significance Single submitter
- AKIRIN1 p.Arg39Thr Uncertain significance Single submitter
- AKIRIN1 p.Gln56Arg Uncertain significance Single submitter
- AKIRIN1 p.Gln99Arg Uncertain significance Single submitter
- AKIRIN1 p.Glu12Val Uncertain significance Single submitter
- AKIRIN1 p.Gly33Ser Uncertain significance Single submitter
- AKIRIN1 p.His110Asp Uncertain significance Single submitter
- AKIRIN1 p.His176Arg Uncertain significance Single submitter
- AKIRIN1 p.Ile179Met Uncertain significance Single submitter
- AKIRIN1 p.Leu58Val Uncertain significance Single submitter
- AKIRIN1 p.Met11Leu Uncertain significance Single submitter
- AKIRIN1 p.Pro130Leu Uncertain significance Single submitter
- AKIRIN1 p.Pro34Ser Uncertain significance Single submitter
- AKIRIN1 p.Pro45Leu Uncertain significance Single submitter
- AKIRIN1 p.Thr35Ser Uncertain significance Single submitter
- AKIRIN1 p.Tyr183Asn Uncertain significance Single submitter
- AKIRIN1 p.Val137Ile Uncertain significance Single submitter
- AKIRIN1 p.Val96Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- AKIRIN1 p.Ala16Val Uncertain significance Single submitter
- AKIRIN1 p.Arg153Gln Uncertain significance Single submitter
- AKIRIN1 p.Glu12Lys Uncertain significance Single submitter
- AKIRIN1 p.His110Tyr Uncertain significance Single submitter
- AKIRIN1 p.Thr53Asn Uncertain significance Single submitter
- AKIRIN1 p.Trp90Arg Uncertain significance Single submitter
All AKIRIN1 variants
Benign 1
- c.496+8C>G No assertion criteria AKIRIN1-related disorder
Likely benign 1
- c.568+10G>A No assertion criteria AKIRIN1-related disorder
Uncertain significance 24
- p.Ala16Val Single submitter ⚠
- p.Arg153Gln Single submitter ⚠
- p.Arg26Trp Single submitter ⚠
- p.Arg39Thr Single submitter ⚠
- p.Gln56Arg Single submitter ⚠
- p.Gln99Arg Single submitter ⚠
- p.Glu12Lys Single submitter ⚠
- p.Glu12Val Single submitter ⚠
- p.Gly33Ser Single submitter ⚠
- p.His110Asp Single submitter ⚠
- p.His110Tyr Single submitter ⚠
- p.His176Arg Single submitter ⚠
- p.Ile179Met Single submitter ⚠
- p.Leu58Val Single submitter ⚠
- p.Met11Leu Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Thr35Ser Single submitter ⚠
- p.Thr53Asn Single submitter ⚠
- p.Trp90Arg Single submitter ⚠
- p.Tyr183Asn Single submitter ⚠
- p.Val137Ile Single submitter ⚠
- p.Val96Leu Single submitter ⚠