NPR1 — 88 ClinVar variants

All ClinVar germline NPR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →

2 Benign · 6 Likely benign · 80 Uncertain significance

Full NPR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 75

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 53

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 22

The independent predictors disagree with each other — read with care.

All NPR1 variants

Benign 2

p.Glu967Lys Multiple submitters ⚠
p.Gly618= Multiple submitters

Likely benign 6

c.1605+9G>A Multiple submitters
c.1485-10C>T Single submitter
p.Ala887= Single submitter
p.Leu484= Single submitter
p.Pro453= Single submitter
p.Tyr540= Single submitter

Uncertain significance 80

c.2757+1G>A Single submitter
p.Ala139Thr Single submitter
p.Ala170Val Single submitter ⚠
p.Ala258Gly Single submitter ⚠
p.Ala261Thr Single submitter ⚠
p.Ala308Val Single submitter ⚠
p.Ala333Val Single submitter
p.Ala68Glu Single submitter ⚠
p.Ala8Gly Single submitter ⚠
p.Arg1055Thr Single submitter ⚠
p.Arg1060Gln Single submitter ⚠
p.Arg11Leu Single submitter ⚠
p.Arg175Pro Single submitter
p.Arg28Gln Single submitter ⚠
p.Arg383Trp Single submitter ⚠
p.Arg509Gln Single submitter ⚠
p.Arg509Trp Single submitter ⚠
p.Arg511Cys Single submitter ⚠
p.Arg525Gln Single submitter ⚠
p.Arg530Gln Single submitter ⚠
p.Arg568His Single submitter ⚠
p.Arg571Cys Single submitter ⚠
p.Arg588Trp Single submitter ⚠
p.Arg6Leu Single submitter ⚠
p.Arg947Ser Single submitter
p.Arg962Cys Single submitter ⚠
p.Arg962His Single submitter ⚠
p.Arg991Leu Single submitter ⚠
p.Asn338Ser Single submitter ⚠
p.Asn459Ser Single submitter ⚠
p.Asp192Asn Single submitter ⚠
p.Asp467Glu Single submitter ⚠
p.Cys118Arg Single submitter ⚠
p.Cys464Tyr Single submitter ⚠
p.Gln328Arg Single submitter ⚠
p.Gln498Glu Single submitter ⚠
p.Glu1010Lys Single submitter ⚠
p.Glu1025Val Single submitter ⚠
p.Glu1031Gln Single submitter ⚠
p.Glu193Lys Single submitter ⚠
p.Glu416Lys Single submitter ⚠
p.Glu473Lys Single submitter
p.Gly147Cys Single submitter ⚠
p.Gly265Arg Single submitter ⚠
p.Gly438Arg Single submitter ⚠
p.Gly884Asp Single submitter ⚠
p.Gly938Ala Single submitter ⚠
p.Gly938Arg Single submitter ⚠
p.His594Arg Single submitter ⚠
p.Ile244Ser Single submitter ⚠
p.Ile244Thr Single submitter ⚠
p.Ile488Thr Single submitter ⚠
p.Ile877Val Single submitter ⚠
p.Ile912Thr Single submitter ⚠
p.Leu199Ile Single submitter ⚠
p.Leu263Phe Single submitter ⚠
p.Leu503Pro Single submitter ⚠
p.Lys105Arg Single submitter ⚠
p.Met820Val Single submitter ⚠
p.Phe1027Val Single submitter ⚠
p.Phe339Ser Single submitter ⚠
p.Phe339Tyr Single submitter ⚠
p.Pro116Ser Single submitter ⚠
p.Pro190Leu Single submitter ⚠
p.Pro450Ser Single submitter ⚠
p.Pro7His Single submitter ⚠
p.Ser226Gly Single submitter ⚠
p.Ser505Leu Single submitter ⚠
p.Ser874Gly Single submitter ⚠
p.Thr406Ile Single submitter ⚠
p.Thr532Ser Single submitter ⚠
p.Thr556Ile Single submitter ⚠
p.Thr866Met Single submitter ⚠
p.Thr977Ala Single submitter ⚠
p.Trp292Arg Single submitter ⚠
p.Tyr334Ser Single submitter ⚠
p.Tyr447Cys Single submitter ⚠
p.Val436Met Single submitter ⚠
p.Val59Met Single submitter ⚠
p.Val917Gly Single submitter ⚠