AKIRIN2 — 23 ClinVar variants
All ClinVar germline AKIRIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
2 Benign · 21 Uncertain significance
Full AKIRIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKIRIN2 p.Ala117Val Uncertain significance Single submitter
- AKIRIN2 p.Ala28Gly Uncertain significance Single submitter
- AKIRIN2 p.Asp106Val Uncertain significance Single submitter
- AKIRIN2 p.Gln104His Uncertain significance Single submitter
- AKIRIN2 p.His187Arg Uncertain significance Single submitter
- AKIRIN2 p.Leu120Phe Uncertain significance Single submitter
- AKIRIN2 p.Leu156Ser Uncertain significance Single submitter
- AKIRIN2 p.Phe182Tyr Uncertain significance Single submitter
- AKIRIN2 p.Pro40Ala Uncertain significance Single submitter
- AKIRIN2 p.Ser121Arg Uncertain significance Single submitter
- AKIRIN2 p.Ser21Phe Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- AKIRIN2 p.Ala55Thr Uncertain significance Single submitter
- AKIRIN2 p.Arg146Gln Uncertain significance Single submitter
- AKIRIN2 p.Arg159Cys Uncertain significance Single submitter
- AKIRIN2 p.Pro15Leu Uncertain significance Single submitter
- AKIRIN2 p.Ser101Asn Uncertain significance Single submitter
- AKIRIN2 p.Ser74Cys Uncertain significance Single submitter
- AKIRIN2 p.Thr173Ile Uncertain significance Single submitter
- AKIRIN2 p.Thr34Asn Uncertain significance Single submitter
- AKIRIN2 p.Val72Ile Uncertain significance Single submitter
All AKIRIN2 variants
Benign 2
- c.379+4A>G Single submitter
- p.Ser200= Single submitter
Uncertain significance 21
- p.Ala117Val Single submitter ⚠
- p.Ala28Gly Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg159Cys Single submitter ⚠
- p.Arg164Ter Single submitter
- p.Asp106Val Single submitter ⚠
- p.Gln104His Single submitter ⚠
- p.His187Arg Single submitter ⚠
- p.Leu120Phe Single submitter ⚠
- p.Leu156Ser Single submitter ⚠
- p.Phe182Tyr Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro40Ala Single submitter ⚠
- p.Ser101Asn Single submitter ⚠
- p.Ser121Arg Single submitter ⚠
- p.Ser21Phe Single submitter ⚠
- p.Ser74Cys Single submitter ⚠
- p.Thr173Ile Single submitter ⚠
- p.Thr34Asn Single submitter ⚠
- p.Val72Ile Single submitter ⚠