NPSR1 — 30 ClinVar variants
All ClinVar germline NPSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
5 Benign · 2 Likely benign · 23 Uncertain significance
Full NPSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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.
- NPSR1 p.Ala163Asp Uncertain significance Single submitter
- NPSR1 p.Ala25Thr Uncertain significance Single submitter
- NPSR1 p.Asn192Thr Uncertain significance Single submitter
- NPSR1 p.Asn4Ser Uncertain significance Single submitter
- NPSR1 p.Asp11Gly Uncertain significance Single submitter
- NPSR1 p.Cys197Trp Uncertain significance Single submitter
- NPSR1 p.Cys26Tyr Uncertain significance Single submitter
- NPSR1 p.Cys286Arg Uncertain significance Single submitter
- NPSR1 p.Glu7Ala Uncertain significance Single submitter
- NPSR1 p.Ile144Arg Uncertain significance Single submitter
- NPSR1 p.Ile265Thr Uncertain significance Single submitter
- NPSR1 p.Ile284Val Uncertain significance Single submitter
- NPSR1 p.Ile64Val Uncertain significance Single submitter
- NPSR1 p.Met211Val Uncertain significance Single submitter
- NPSR1 p.Phe185Leu Uncertain significance Single submitter
- NPSR1 p.Ser288Asn Uncertain significance Single submitter
- NPSR1 p.Ser338Pro Uncertain significance Single submitter
- NPSR1 p.Tyr310Ser Uncertain significance Single submitter
- NPSR1 p.Val168Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All NPSR1 variants
Benign 5
- c.148-7C>G Single submitter
- p.Ser143Gly Single submitter
- p.Thr115= Single submitter
- p.Trp287Ter Single submitter
- p.Asn107Ile No assertion criteria asthma-related traits, susceptibility to, 2
Likely benign 2
- p.Phe114= Single submitter
- p.Ser68Ala Single submitter
Uncertain significance 23
- p.Ala163Asp Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Asn192Thr Single submitter ⚠
- p.Asn4Ser Single submitter ⚠
- p.Asp11Gly Single submitter ⚠
- p.Asp297Glu Single submitter ⚠
- p.Cys197Trp Single submitter ⚠
- p.Cys26Tyr Single submitter ⚠
- p.Cys286Arg Single submitter ⚠
- p.Glu7Ala Single submitter ⚠
- p.Ile144Arg Single submitter ⚠
- p.Ile265Thr Single submitter ⚠
- p.Ile284Val Single submitter ⚠
- p.Ile64Val Single submitter ⚠
- p.Met211Val Single submitter ⚠
- p.Phe185Leu Single submitter ⚠
- p.Phe220Leu Single submitter ⚠
- p.Ser288Asn Single submitter ⚠
- p.Ser338Pro Single submitter ⚠
- p.Thr97Ile Single submitter ⚠
- p.Tyr310Ser Single submitter ⚠
- p.Val168Ala Single submitter ⚠
- p.Val218Met Single submitter ⚠