NR2C2 — 34 ClinVar variants
All ClinVar germline NR2C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Benign · 1 Likely benign · 32 Uncertain significance
Full NR2C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NR2C2 p.Ala319Val Uncertain significance Single submitter
- NR2C2 p.Ala59Thr Uncertain significance Single submitter
- NR2C2 p.Ala74Thr Uncertain significance Single submitter
- NR2C2 p.Arg101His Uncertain significance Single submitter
- NR2C2 p.Arg22His Uncertain significance Single submitter
- NR2C2 p.Arg254Cys Uncertain significance Single submitter
- NR2C2 p.Arg311Trp Uncertain significance Single submitter
- NR2C2 p.Arg464Trp Uncertain significance Single submitter
- NR2C2 p.Asn279Ser Uncertain significance Single submitter
- NR2C2 p.Asp232Gly Uncertain significance Single submitter
- NR2C2 p.Cys434Arg Uncertain significance Single submitter
- NR2C2 p.Gln109His Uncertain significance Single submitter
- NR2C2 p.Gly233Glu Uncertain significance Single submitter
- NR2C2 p.Gly430Ser Uncertain significance Single submitter
- NR2C2 p.Lys105Thr Uncertain significance Single submitter
- NR2C2 p.Lys474Asn Uncertain significance Single submitter
- NR2C2 p.Ser19Leu Uncertain significance Single submitter
- NR2C2 p.Ser363Leu Uncertain significance Single submitter
- NR2C2 p.Thr106Met Uncertain significance Single submitter
- NR2C2 p.Thr352Ile Uncertain significance Single submitter
- NR2C2 p.Thr584Ala Uncertain significance Single submitter
- NR2C2 p.Thr94Met Uncertain significance Single submitter
- NR2C2 p.Tyr116Phe Uncertain significance Single submitter
- NR2C2 p.Val108Ile Uncertain significance Single submitter
- NR2C2 p.Val545Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All NR2C2 variants
Benign 1
- p.Thr224= Multiple submitters
Likely benign 1
- p.Arg235= Single submitter
Uncertain significance 32
- c.72+1G>C Single submitter
- p.Ala319Val Single submitter ⚠
- p.Ala59Thr Single submitter ⚠
- p.Ala74Thr Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg22His Single submitter ⚠
- p.Arg254Cys Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg464Trp Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asp232Gly Single submitter ⚠
- p.Cys434Arg Single submitter ⚠
- p.Cys434Ser Single submitter ⚠
- p.Gln109His Single submitter ⚠
- p.Gln590Glu Single submitter ⚠
- p.Gly233Glu Single submitter ⚠
- p.Gly430Ser Single submitter ⚠
- p.His471Asn Single submitter ⚠
- p.Lys105Thr Single submitter ⚠
- p.Lys474Asn Single submitter ⚠
- p.Met184fs Single submitter
- p.Pro69Leu Single submitter ⚠
- p.Ser19Leu Single submitter ⚠
- p.Ser351Ter Single submitter
- p.Ser363Leu Single submitter ⚠
- p.Thr106Met Single submitter ⚠
- p.Thr352Ile Single submitter ⚠
- p.Thr584Ala Single submitter ⚠
- p.Thr94Met Single submitter ⚠
- p.Tyr116Phe Single submitter ⚠
- p.Val108Ile Single submitter ⚠
- p.Val545Ile Single submitter ⚠