NMUR1 — 94 ClinVar variants

All ClinVar germline NMUR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

4 Benign · 1 Benign/Likely benign · 9 Likely benign · 80 Uncertain significance

Full NMUR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 58

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

Predictors split 18

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

All NMUR1 variants

Benign 4

p.Arg179Cys Single submitter
p.Asp44= Single submitter
p.Leu373= Single submitter
p.Tyr160= Single submitter

Benign/Likely benign 1

p.Arg259Trp Multiple submitters

Likely benign 9

p.Ala236Thr Single submitter
p.Arg175Gln Single submitter
p.Asn22Ser Single submitter
p.Gly374Arg Single submitter
p.His288= Single submitter
p.Met61Val Single submitter
p.Ser341= Single submitter
p.Val185Ile Single submitter
p.Val232= Single submitter

Uncertain significance 80

p.Ala176Val Single submitter ⚠
p.Ala236Val Single submitter ⚠
p.Ala25Thr Single submitter ⚠
p.Ala269Val Single submitter ⚠
p.Ala350Val Single submitter ⚠
p.Ala412Ser Single submitter ⚠
p.Arg159His Single submitter ⚠
p.Arg175Trp Single submitter ⚠
p.Arg203Trp Single submitter ⚠
p.Arg210Trp Single submitter ⚠
p.Arg272Gly Single submitter ⚠
p.Arg317His Single submitter ⚠
p.Arg362Cys Single submitter ⚠
p.Arg379His Single submitter ⚠
p.Arg87Cys Single submitter ⚠
p.Asn27Ser Single submitter ⚠
p.Asp106Asn Single submitter ⚠
p.Asp14Gly Single submitter ⚠
p.Asp289Tyr Single submitter ⚠
p.Asp316Gly Single submitter ⚠
p.Asp415Asn Single submitter ⚠
p.Asp415His Single submitter ⚠
p.Cys64Tyr Single submitter
p.Cys82Tyr Single submitter ⚠
p.Gln335Arg Single submitter ⚠
p.Gln368Glu Single submitter ⚠
p.Gln368Leu Single submitter ⚠
p.Glu261Asp Single submitter ⚠
p.Glu422Ala Single submitter ⚠
p.Gly132Asp Single submitter ⚠
p.Gly19Ala Single submitter ⚠
p.Gly19Val Single submitter ⚠
p.Gly211Asp Single submitter ⚠
p.Gly291Asp Single submitter ⚠
p.Gly329Asp Single submitter ⚠
p.Gly342Ser Single submitter ⚠
p.Gly374Ala Single submitter ⚠
p.Gly74Asp Single submitter ⚠
p.Gly79Glu Single submitter ⚠
p.His177Arg Single submitter ⚠
p.Ile70Met Single submitter ⚠
p.Leu129Pro Single submitter ⚠
p.Leu380Arg Single submitter ⚠
p.Lys297Glu Single submitter
p.Met172Thr Single submitter ⚠
p.Met247Val Single submitter ⚠
p.Met359Lys Single submitter
p.Met359Thr Single submitter
p.Phe240Val Single submitter ⚠
p.Phe35Val Single submitter ⚠
p.Pro126His Single submitter ⚠
p.Pro353Ala Single submitter ⚠
p.Pro37Thr Single submitter ⚠
p.Pro62Thr Single submitter ⚠
p.Ser198Gly Single submitter ⚠
p.Ser349Leu Single submitter ⚠
p.Ser360Phe Single submitter ⚠
p.Ser388Gly Single submitter ⚠
p.Ser390Arg Single submitter ⚠
p.Ser406Gly Single submitter ⚠
p.Ser9Cys Single submitter ⚠
p.Thr174Met Single submitter ⚠
p.Thr2Ile Single submitter ⚠
p.Thr397Asn Single submitter ⚠
p.Thr397Ile Single submitter ⚠
p.Thr66Ser Single submitter ⚠
p.Thr95Ala Single submitter ⚠
p.Tyr251His Single submitter ⚠
p.Tyr346Cys Single submitter ⚠
p.Tyr356Cys Single submitter ⚠
p.Val109Ala Single submitter ⚠
p.Val109Leu Single submitter ⚠
p.Val163Met Single submitter ⚠
p.Val207Met Single submitter ⚠
p.Val232Ala Single submitter ⚠
p.Val304Met Single submitter ⚠
p.Val323Met Single submitter ⚠
p.Val354Met Single submitter ⚠
p.Val408Ile Single submitter ⚠
p.Val408Phe Single submitter ⚠