KPNA4 — 21 ClinVar variants
All ClinVar germline KPNA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Benign · 1 Likely benign · 19 Uncertain significance
Full KPNA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KPNA4 p.Asn368Ser Uncertain significance Single submitter
- KPNA4 p.Asn513Ser Uncertain significance Single submitter
- KPNA4 p.Asp232Asn Uncertain significance Single submitter
- KPNA4 p.Gln278Arg Uncertain significance Single submitter
- KPNA4 p.Glu58Gln Uncertain significance Single submitter
- KPNA4 p.Gly284Glu Uncertain significance Single submitter
- KPNA4 p.Ile208Val Uncertain significance Single submitter
- KPNA4 p.Ile212Val Uncertain significance Single submitter
- KPNA4 p.Ile214Val Uncertain significance Single submitter
- KPNA4 p.Ile243Asn Uncertain significance Single submitter
- KPNA4 p.Ile277Thr Uncertain significance Single submitter
- KPNA4 p.Ile353Ser Uncertain significance Single submitter
- KPNA4 p.Ile62Thr Uncertain significance Single submitter
- KPNA4 p.Leu305Arg Uncertain significance Single submitter
- KPNA4 p.Leu376Phe Uncertain significance Single submitter
- KPNA4 p.Val173Ala Uncertain significance Single submitter
- KPNA4 p.Val514Leu Uncertain significance Single submitter
- KPNA4 p.Val68Ala Uncertain significance Single submitter
-
KPNA4 p.Leu305His
Uncertain significance
No assertion criteria
KPNA4-related condition
All KPNA4 variants
Benign 1
- c.556+9A>T Multiple submitters
Likely benign 1
- c.115-3A>T Single submitter
Uncertain significance 19
- p.Asn368Ser Single submitter ⚠
- p.Asn513Ser Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Gln278Arg Single submitter ⚠
- p.Glu58Gln Single submitter ⚠
- p.Gly284Glu Single submitter ⚠
- p.Ile208Val Single submitter ⚠
- p.Ile212Val Single submitter ⚠
- p.Ile214Val Single submitter ⚠
- p.Ile243Asn Single submitter ⚠
- p.Ile277Thr Single submitter ⚠
- p.Ile353Ser Single submitter ⚠
- p.Ile62Thr Single submitter ⚠
- p.Leu305Arg Single submitter ⚠
- p.Leu376Phe Single submitter ⚠
- p.Val173Ala Single submitter ⚠
- p.Val514Leu Single submitter ⚠
- p.Val68Ala Single submitter ⚠
- p.Leu305His No assertion criteria KPNA4-related condition ⚠