NR1D2 — 71 ClinVar variants
All ClinVar germline NR1D2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
1 Likely pathogenic · 1 Benign · 4 Likely benign · 65 Uncertain significance
Full NR1D2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NR1D2 p.Ala223Val Uncertain significance Single submitter
- NR1D2 p.Ala574Thr Uncertain significance Single submitter
- NR1D2 p.Ala61Thr Uncertain significance Single submitter
- NR1D2 p.Arg178His Uncertain significance Single submitter
- NR1D2 p.Arg286Gln Uncertain significance Single submitter
- NR1D2 p.Arg449Gln Uncertain significance Single submitter
- NR1D2 p.Asn237Lys Uncertain significance Single submitter
- NR1D2 p.Asn237Ser Uncertain significance Single submitter
- NR1D2 p.Asn295Ser Uncertain significance Single submitter
- NR1D2 p.Asn297Lys Uncertain significance Single submitter
- NR1D2 p.Asn303Ile Uncertain significance Single submitter
- NR1D2 p.Asn319Ser Uncertain significance Single submitter
- NR1D2 p.Asn523Thr Uncertain significance Single submitter
- NR1D2 p.Asn52Ser Uncertain significance Single submitter
- NR1D2 p.Asn62Tyr Uncertain significance Single submitter
- NR1D2 p.Asp299Gly Uncertain significance Single submitter
- NR1D2 p.Asp356Asn Uncertain significance Single submitter
- NR1D2 p.Asp433Glu Uncertain significance Single submitter
- NR1D2 p.Asp73Gly Uncertain significance Single submitter
- NR1D2 p.Cys301Tyr Uncertain significance Single submitter
- NR1D2 p.Cys374Tyr Uncertain significance Single submitter
- NR1D2 p.Cys74Gly Uncertain significance Single submitter
- NR1D2 p.Gln208Lys Uncertain significance Single submitter
- NR1D2 p.Gln34Pro Uncertain significance Single submitter
- NR1D2 p.Glu273Gly Uncertain significance Single submitter
- NR1D2 p.Glu285Lys Uncertain significance Single submitter
- NR1D2 p.Glu547Asp Uncertain significance Single submitter
- NR1D2 p.Gly362Arg Uncertain significance Single submitter
- NR1D2 p.His206Arg Uncertain significance Single submitter
- NR1D2 p.His25Leu Uncertain significance Single submitter
- NR1D2 p.His25Tyr Uncertain significance Single submitter
- NR1D2 p.His300Arg Uncertain significance Single submitter
- NR1D2 p.Ile189Thr Uncertain significance Single submitter
- NR1D2 p.Ile338Val Uncertain significance Single submitter
- NR1D2 p.Ile360Leu Uncertain significance Single submitter
- NR1D2 p.Ile360Thr Uncertain significance Single submitter
- NR1D2 p.Ile550Leu Uncertain significance Single submitter
- NR1D2 p.Ile550Val Uncertain significance Single submitter
- NR1D2 p.Leu212Val Uncertain significance Single submitter
- NR1D2 p.Lys230Arg Uncertain significance Single submitter
- NR1D2 p.Lys388Glu Uncertain significance Single submitter
- NR1D2 p.Lys414Arg Uncertain significance Single submitter
- NR1D2 p.Lys457Arg Uncertain significance Single submitter
- NR1D2 p.Met477Val Uncertain significance Single submitter
- NR1D2 p.Phe443Leu Uncertain significance Single submitter
- NR1D2 p.Pro222Ser Uncertain significance Single submitter
- NR1D2 p.Ser201Ile Uncertain significance Single submitter
- NR1D2 p.Ser241Phe Uncertain significance Single submitter
- NR1D2 p.Ser242Phe Uncertain significance Single submitter
- NR1D2 p.Ser278Asn Uncertain significance Single submitter
- NR1D2 p.Ser465Asn Uncertain significance Single submitter
- NR1D2 p.Ser476Ala Uncertain significance Single submitter
- NR1D2 p.Thr219Arg Uncertain significance Single submitter
- NR1D2 p.Thr94Ala Uncertain significance Single submitter
- NR1D2 p.Val3Met Uncertain significance Single submitter
- NR1D2 p.Val522Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- NR1D2 p.Glu491Gly Uncertain significance Single submitter
- NR1D2 p.Glu526Gln Uncertain significance Single submitter
- NR1D2 p.Glu571Asp Uncertain significance Single submitter
- NR1D2 p.Gly398Glu Uncertain significance Single submitter
- NR1D2 p.Leu382Pro Uncertain significance Single submitter
- NR1D2 p.Ser147Phe Uncertain significance Single submitter
- NR1D2 p.Tyr11Ser Uncertain significance Single submitter
- NR1D2 p.Tyr267Cys Uncertain significance Single submitter
- NR1D2 p.Val257Leu Uncertain significance Single submitter
All NR1D2 variants
Likely pathogenic 1
- p.Arg175Trp No assertion criteria familial atrioventricular septal defect
Benign 1
- p.Cys120= Multiple submitters
Likely benign 4
- p.Ala110= Single submitter
- p.Asn303Ser Single submitter
- p.Asn62Ser Single submitter
- p.Met76Val Single submitter
Uncertain significance 65
- p.Ala223Val Single submitter ⚠
- p.Ala574Thr Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Arg178His Single submitter ⚠
- p.Arg286Gln Single submitter ⚠
- p.Arg449Gln Single submitter ⚠
- p.Asn237Lys Single submitter ⚠
- p.Asn237Ser Single submitter ⚠
- p.Asn295Ser Single submitter ⚠
- p.Asn297Lys Single submitter ⚠
- p.Asn303Ile Single submitter ⚠
- p.Asn319Ser Single submitter ⚠
- p.Asn523Thr Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asn62Tyr Single submitter ⚠
- p.Asp299Gly Single submitter ⚠
- p.Asp356Asn Single submitter ⚠
- p.Asp433Glu Single submitter ⚠
- p.Asp73Gly Single submitter ⚠
- p.Cys301Tyr Single submitter ⚠
- p.Cys374Tyr Single submitter ⚠
- p.Cys74Gly Single submitter ⚠
- p.Gln208Lys Single submitter ⚠
- p.Gln34Pro Single submitter ⚠
- p.Glu273Gly Single submitter ⚠
- p.Glu285Lys Single submitter ⚠
- p.Glu491Gly Single submitter ⚠
- p.Glu526Gln Single submitter ⚠
- p.Glu547Asp Single submitter ⚠
- p.Glu571Asp Single submitter ⚠
- p.Gly362Arg Single submitter ⚠
- p.Gly398Glu Single submitter ⚠
- p.His206Arg Single submitter ⚠
- p.His25Leu Single submitter ⚠
- p.His25Tyr Single submitter ⚠
- p.His300Arg Single submitter ⚠
- p.Ile189Thr Single submitter ⚠
- p.Ile338Val Single submitter ⚠
- p.Ile360Leu Single submitter ⚠
- p.Ile360Thr Single submitter ⚠
- p.Ile550Leu Single submitter ⚠
- p.Ile550Val Single submitter ⚠
- p.Leu212Val Single submitter ⚠
- p.Leu382Pro Single submitter ⚠
- p.Lys230Arg Single submitter ⚠
- p.Lys388Glu Single submitter ⚠
- p.Lys414Arg Single submitter ⚠
- p.Lys457Arg Single submitter ⚠
- p.Met477Val Single submitter ⚠
- p.Phe443Leu Single submitter ⚠
- p.Pro222Ser Single submitter ⚠
- p.Ser147Phe Single submitter ⚠
- p.Ser201Ile Single submitter ⚠
- p.Ser241Phe Single submitter ⚠
- p.Ser242Phe Single submitter ⚠
- p.Ser278Asn Single submitter ⚠
- p.Ser465Asn Single submitter ⚠
- p.Ser476Ala Single submitter ⚠
- p.Thr219Arg Single submitter ⚠
- p.Thr94Ala Single submitter ⚠
- p.Tyr11Ser Single submitter ⚠
- p.Tyr267Cys Single submitter ⚠
- p.Val257Leu Single submitter ⚠
- p.Val3Met Single submitter ⚠
- p.Val522Ile Single submitter ⚠