KPNA1 — 35 ClinVar variants
All ClinVar germline KPNA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Benign · 1 Likely benign · 33 Uncertain significance
Full KPNA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KPNA1 p.Ala250Val Uncertain significance Single submitter
- KPNA1 p.Ala358Thr Uncertain significance Single submitter
- KPNA1 p.Ala443Thr Uncertain significance Single submitter
- KPNA1 p.Asn308Ser Uncertain significance Single submitter
- KPNA1 p.Gln167Glu Uncertain significance Single submitter
- KPNA1 p.Gln341Arg Uncertain significance Single submitter
- KPNA1 p.Gly462Ser Uncertain significance Single submitter
- KPNA1 p.Gly66Arg Uncertain significance Single submitter
- KPNA1 p.Ile173Val Uncertain significance Single submitter
- KPNA1 p.Ile381Leu Uncertain significance Single submitter
- KPNA1 p.Ile513Val Uncertain significance Single submitter
- KPNA1 p.Ile91Leu Uncertain significance Single submitter
- KPNA1 p.Met62Ile Uncertain significance Single submitter
- KPNA1 p.Met75Thr Uncertain significance Single submitter
- KPNA1 p.Met75Val Uncertain significance Single submitter
- KPNA1 p.Pro125Ser Uncertain significance Single submitter
- KPNA1 p.Pro214Ser Uncertain significance Single submitter
- KPNA1 p.Ser387Asn Uncertain significance Single submitter
- KPNA1 p.Ser437Pro Uncertain significance Single submitter
- KPNA1 p.Ser511Gly Uncertain significance Single submitter
- KPNA1 p.Ser511Ile Uncertain significance Single submitter
- KPNA1 p.Thr52Ile Uncertain significance Single submitter
- KPNA1 p.Val258Leu Uncertain significance Single submitter
- KPNA1 p.Val297Ile Uncertain significance Single submitter
- KPNA1 p.Val420Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- KPNA1 p.Ala291Thr Uncertain significance Single submitter
- KPNA1 p.Glu31Gly Uncertain significance Single submitter
- KPNA1 p.Glu455Lys Uncertain significance Single submitter
- KPNA1 p.Ile122Thr Uncertain significance Single submitter
- KPNA1 p.Ser147Thr Uncertain significance Single submitter
- KPNA1 p.Tyr476Asp Uncertain significance Single submitter
All KPNA1 variants
Benign 1
- p.Arg395= Multiple submitters
Likely benign 1
- p.Phe504= Single submitter
Uncertain significance 33
- c.653+1G>A Single submitter
- p.Ala250Val Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala358Thr Single submitter ⚠
- p.Ala443Thr Single submitter ⚠
- p.Asn308Ser Single submitter ⚠
- p.Gln167Glu Single submitter ⚠
- p.Gln341Arg Single submitter ⚠
- p.Glu31Gly Single submitter ⚠
- p.Glu455Lys Single submitter ⚠
- p.Gly462Ser Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.Ile122Thr Single submitter ⚠
- p.Ile173Val Single submitter ⚠
- p.Ile212Met Single submitter
- p.Ile381Leu Single submitter ⚠
- p.Ile513Val Single submitter ⚠
- p.Ile91Leu Single submitter ⚠
- p.Met62Ile Single submitter ⚠
- p.Met75Thr Single submitter ⚠
- p.Met75Val Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro214Ser Single submitter ⚠
- p.Ser147Thr Single submitter ⚠
- p.Ser387Asn Single submitter ⚠
- p.Ser437Pro Single submitter ⚠
- p.Ser511Gly Single submitter ⚠
- p.Ser511Ile Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Tyr476Asp Single submitter ⚠
- p.Val258Leu Single submitter ⚠
- p.Val297Ile Single submitter ⚠
- p.Val420Ile Single submitter ⚠