NUP50 — 15 ClinVar variants
All ClinVar germline NUP50 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely benign · 14 Uncertain significance
Full NUP50 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NUP50 p.Ala43Val Uncertain significance Single submitter
- NUP50 p.Ala80Thr Uncertain significance Single submitter
- NUP50 p.Ala97Val Uncertain significance Single submitter
- NUP50 p.Arg45His Uncertain significance Single submitter
- NUP50 p.Arg72Cys Uncertain significance Single submitter
- NUP50 p.Arg72His Uncertain significance Single submitter
- NUP50 p.Asn37Lys Uncertain significance Single submitter
- NUP50 p.Glu33Lys Uncertain significance Single submitter
- NUP50 p.Gly91Arg Uncertain significance Single submitter
- NUP50 p.Leu85Ser Uncertain significance Single submitter
- NUP50 p.Phe113Ser Uncertain significance Single submitter
- NUP50 p.Ser52Cys Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All NUP50 variants
Likely benign 1
- p.Ala106Val Single submitter
Uncertain significance 14
- p.Ala43Val Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg45His Single submitter ⚠
- p.Arg72Cys Single submitter ⚠
- p.Arg72His Single submitter ⚠
- p.Asn37Lys Single submitter ⚠
- p.Glu33Lys Single submitter ⚠
- p.Glu7Lys Single submitter ⚠
- p.Gly91Arg Single submitter ⚠
- p.Leu85Ser Single submitter ⚠
- p.Lys3Arg Single submitter
- p.Phe113Ser Single submitter ⚠
- p.Ser52Cys Single submitter ⚠