KPNB1 — 32 ClinVar variants
All ClinVar germline KPNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Benign · 1 Likely benign · 30 Uncertain significance
Full KPNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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.
- KPNB1 p.Arg852Lys Uncertain significance Single submitter
- KPNB1 p.Asp71His Uncertain significance Single submitter
- KPNB1 p.Gln250Glu Uncertain significance Single submitter
- KPNB1 p.Gln791Arg Uncertain significance Single submitter
- KPNB1 p.Gly655Ser Uncertain significance Single submitter
- KPNB1 p.His844Tyr Uncertain significance Single submitter
- KPNB1 p.Ile177Thr Uncertain significance Single submitter
- KPNB1 p.Ile506Val Uncertain significance Single submitter
- KPNB1 p.Ile720Val Uncertain significance Single submitter
- KPNB1 p.Leu836Ser Uncertain significance Single submitter
- KPNB1 p.Lys418Arg Uncertain significance Single submitter
- KPNB1 p.Phe261Ser Uncertain significance Single submitter
- KPNB1 p.Pro517His Uncertain significance Single submitter
- KPNB1 p.Pro517Leu Uncertain significance Single submitter
- KPNB1 p.Ser270Asn Uncertain significance Single submitter
- KPNB1 p.Thr143Ala Uncertain significance Single submitter
- KPNB1 p.Thr143Ile Uncertain significance Single submitter
- KPNB1 p.Tyr249Cys Uncertain significance Single submitter
- KPNB1 p.Tyr497Ser Uncertain significance Single submitter
- KPNB1 p.Tyr76Asp Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All KPNB1 variants
Benign 1
- p.Tyr661= Multiple submitters
Likely benign 1
- p.Ser400Asn Single submitter
Uncertain significance 30
- p.Arg852Lys Single submitter ⚠
- p.Asp71His Single submitter ⚠
- p.Cys455Tyr Single submitter
- p.Gln22Arg Single submitter
- p.Gln250Glu Single submitter ⚠
- p.Gln712His Single submitter ⚠
- p.Gln791Arg Single submitter ⚠
- p.Glu8Gln Single submitter ⚠
- p.Gly655Ser Single submitter ⚠
- p.His844Tyr Single submitter ⚠
- p.Ile177Thr Single submitter ⚠
- p.Ile506Val Single submitter ⚠
- p.Ile720Val Single submitter ⚠
- p.Leu352Val Single submitter ⚠
- p.Leu836Ser Single submitter ⚠
- p.Lys418Arg Single submitter ⚠
- p.Met291Ile Single submitter
- p.Phe261Ser Single submitter ⚠
- p.Pro517His Single submitter ⚠
- p.Pro517Leu Single submitter ⚠
- p.Ser270Asn Single submitter ⚠
- p.Ser64Phe Single submitter
- p.Ser683Phe Single submitter ⚠
- p.Thr143Ala Single submitter ⚠
- p.Thr143Ile Single submitter ⚠
- p.Thr327Arg Single submitter ⚠
- p.Tyr249Cys Single submitter ⚠
- p.Tyr497Ser Single submitter ⚠
- p.Tyr76Asp Single submitter ⚠
- p.Val235fs Single submitter