NR2E1 — 36 ClinVar variants
All ClinVar germline NR2E1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 5 Likely benign · 30 Uncertain significance
Full NR2E1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NR2E1 p.Ala239Val Uncertain significance Single submitter
- NR2E1 p.Ala313Thr Uncertain significance Single submitter
- NR2E1 p.Ala32Thr Uncertain significance Single submitter
- NR2E1 p.Arg309Gln Uncertain significance Single submitter
- NR2E1 p.Asn369Ser Uncertain significance Single submitter
- NR2E1 p.Asn82Ser Uncertain significance Single submitter
- NR2E1 p.Asp281Gly Uncertain significance Single submitter
- NR2E1 p.Gln136Glu Uncertain significance Single submitter
- NR2E1 p.Gln256His Uncertain significance Single submitter
- NR2E1 p.Gln57Glu Uncertain significance Single submitter
- NR2E1 p.Gln57Lys Uncertain significance Single submitter
- NR2E1 p.Gly368Ser Uncertain significance Single submitter
- NR2E1 p.His140Gln Uncertain significance Single submitter
- NR2E1 p.Ile262Thr Uncertain significance Single submitter
- NR2E1 p.Ile99Met Uncertain significance Single submitter
- NR2E1 p.Pro236Leu Uncertain significance Single submitter
- NR2E1 p.Ser122Pro Uncertain significance Single submitter
- NR2E1 p.Ser158Asn Uncertain significance Single submitter
- NR2E1 p.Ser202Thr Uncertain significance Single submitter
- NR2E1 p.Thr149Ile Uncertain significance Single submitter
- NR2E1 p.Thr163Met Uncertain significance Single submitter
- NR2E1 p.Thr335Ala Uncertain significance Single submitter
- NR2E1 p.Val237Ala Uncertain significance Single submitter
- NR2E1 p.Val292Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All NR2E1 variants
Benign 1
- c.496-3C>T No assertion criteria NR2E1-related disorder
Likely benign 5
- c.25+1341A>T No assertion criteria NR2E1-related disorder
- p.Glu112= No assertion criteria NR2E1-related disorder
- p.Gly93= No assertion criteria NR2E1-related disorder
- p.Pro4= No assertion criteria NR2E1-related disorder
- p.Ser37= No assertion criteria NR2E1-related disorder
Uncertain significance 30
- c.25+1277C>A Single submitter
- p.Ala239Val Single submitter ⚠
- p.Ala313Thr Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Arg309Gln Single submitter ⚠
- p.Asn369Ser Single submitter ⚠
- p.Asn82Ser Single submitter ⚠
- p.Asp281Gly Single submitter ⚠
- p.Gln136Glu Single submitter ⚠
- p.Gln256His Single submitter ⚠
- p.Gln57Glu Single submitter ⚠
- p.Gln57Lys Single submitter ⚠
- p.Gly368Ser Single submitter ⚠
- p.Gly59Asp Single submitter
- p.His140Gln Single submitter ⚠
- p.Ile262Thr Single submitter ⚠
- p.Ile358Thr Single submitter ⚠
- p.Ile99Met Single submitter ⚠
- p.Phe131Leu Single submitter ⚠
- p.Pro236Leu Single submitter ⚠
- p.Ser122Pro Single submitter ⚠
- p.Ser158Asn Single submitter ⚠
- p.Ser202Thr Single submitter ⚠
- p.Thr149Ile Single submitter ⚠
- p.Thr163Met Single submitter ⚠
- p.Thr324Met Single submitter
- p.Thr335Ala Single submitter ⚠
- p.Thr98Ile Single submitter ⚠
- p.Val237Ala Single submitter ⚠
- p.Val292Ile Single submitter ⚠