NR1I2 — 80 ClinVar variants
All ClinVar germline NR1I2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
5 Benign · 5 Likely benign · 70 Uncertain significance
Full NR1I2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NR1I2 p.Ala294Gly Uncertain significance Single submitter
- NR1I2 p.Ala294Val Uncertain significance Single submitter
- NR1I2 p.Ala312Thr Uncertain significance Single submitter
- NR1I2 p.Ala31Thr Uncertain significance Single submitter
- NR1I2 p.Ala83Asp Uncertain significance Single submitter
- NR1I2 p.Arg203Gln Uncertain significance Single submitter
- NR1I2 p.Arg216Gln Uncertain significance Single submitter
- NR1I2 p.Arg216Leu Uncertain significance Single submitter
- NR1I2 p.Arg353His Uncertain significance Single submitter
- NR1I2 p.Arg360Cys Uncertain significance Single submitter
- NR1I2 p.Arg360His Uncertain significance Single submitter
- NR1I2 p.Arg381Gln Uncertain significance Single submitter
- NR1I2 p.Arg413Cys Uncertain significance Single submitter
- NR1I2 p.Asn380Ser Uncertain significance Single submitter
- NR1I2 p.Asp115Asn Uncertain significance Single submitter
- NR1I2 p.Asp13Glu Uncertain significance Single submitter
- NR1I2 p.Asp219Asn Uncertain significance Single submitter
- NR1I2 p.Asp271Asn Uncertain significance Single submitter
- NR1I2 p.Gln141Glu Uncertain significance Single submitter
- NR1I2 p.Glu116Lys Uncertain significance Single submitter
- NR1I2 p.Glu146Gly Uncertain significance Single submitter
- NR1I2 p.Glu183Lys Uncertain significance Single submitter
- NR1I2 p.Glu21Gly Uncertain significance Single submitter
- NR1I2 p.Glu309Ala Uncertain significance Single submitter
- NR1I2 p.Glu59Asp Uncertain significance Single submitter
- NR1I2 p.Gly106Arg Uncertain significance Single submitter
- NR1I2 p.Gly106Val Uncertain significance Single submitter
- NR1I2 p.Gly134Ala Uncertain significance Single submitter
- NR1I2 p.Gly181Asp Uncertain significance Single submitter
- NR1I2 p.Gly217Arg Uncertain significance Single submitter
- NR1I2 p.Gly355Val Uncertain significance Single submitter
- NR1I2 p.Gly37Ser Uncertain significance Single submitter
- NR1I2 p.Gly45Glu Uncertain significance Single submitter
- NR1I2 p.Gly60Arg Uncertain significance Single submitter
- NR1I2 p.His11Arg Uncertain significance Single submitter
- NR1I2 p.His16Pro Uncertain significance Single submitter
- NR1I2 p.His386Tyr Uncertain significance Single submitter
- NR1I2 p.Ile236Val Uncertain significance Single submitter
- NR1I2 p.Leu276Gln Uncertain significance Single submitter
- NR1I2 p.Lys210Glu Uncertain significance Single submitter
- NR1I2 p.Lys26Asn Uncertain significance Single submitter
- NR1I2 p.Met107Lys Uncertain significance Single submitter
- NR1I2 p.Met149Arg Uncertain significance Single submitter
- NR1I2 p.Met329Arg Uncertain significance Single submitter
- NR1I2 p.Phe65Ile Uncertain significance Single submitter
- NR1I2 p.Ser247Thr Uncertain significance Single submitter
- NR1I2 p.Thr165Ala Uncertain significance Single submitter
- NR1I2 p.Tyr263Cys Uncertain significance Single submitter
- NR1I2 p.Tyr328Cys Uncertain significance Single submitter
- NR1I2 p.Tyr340Cys Uncertain significance Single submitter
- NR1I2 p.Val202Leu Uncertain significance Single submitter
- NR1I2 p.Val361Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- NR1I2 p.Arg100Cys Uncertain significance Single submitter
- NR1I2 p.Arg127Trp Uncertain significance Single submitter
- NR1I2 p.Arg132Trp Uncertain significance Single submitter
- NR1I2 p.Arg216Trp Uncertain significance Single submitter
- NR1I2 p.Arg42Cys Uncertain significance Single submitter
- NR1I2 p.Arg71His Uncertain significance Single submitter
- NR1I2 p.Asp416Val Uncertain significance Single submitter
- NR1I2 p.Glu270Lys Uncertain significance Single submitter
- NR1I2 p.Glu427Gln Uncertain significance Single submitter
- NR1I2 p.Gly220Asp Uncertain significance Single submitter
- NR1I2 p.Gly355Asp Uncertain significance Single submitter
- NR1I2 p.Ile273Val Uncertain significance Single submitter
- NR1I2 p.Ile403Phe Uncertain significance Single submitter
- NR1I2 p.Phe162Val Uncertain significance Single submitter
- NR1I2 p.Phe388Leu Uncertain significance Single submitter
- NR1I2 p.Pro78Ser Uncertain significance Single submitter
- NR1I2 p.Val55Ala Uncertain significance Single submitter
All NR1I2 variants
Benign 5
Likely benign 5
- p.Phe264= Multiple submitters
- p.Gly181= Single submitter
- p.His16Tyr Single submitter
- p.Pro227= Single submitter
- p.Tyr263His Single submitter
Uncertain significance 70
- p.Ala294Gly Single submitter ⚠
- p.Ala294Val Single submitter ⚠
- p.Ala312Thr Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala83Asp Single submitter ⚠
- p.Arg100Cys Single submitter ⚠
- p.Arg127Trp Single submitter ⚠
- p.Arg132Trp Single submitter ⚠
- p.Arg203Gln Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg216Leu Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg353His Single submitter ⚠
- p.Arg360Cys Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg71His Single submitter ⚠
- p.Asn380Ser Single submitter ⚠
- p.Asp115Asn Single submitter ⚠
- p.Asp13Glu Single submitter ⚠
- p.Asp219Asn Single submitter ⚠
- p.Asp271Asn Single submitter ⚠
- p.Asp416Val Single submitter ⚠
- p.Gln141Glu Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu146Gly Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu21Gly Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu309Ala Single submitter ⚠
- p.Glu427Gln Single submitter ⚠
- p.Glu59Asp Single submitter ⚠
- p.Gly106Arg Single submitter ⚠
- p.Gly106Val Single submitter ⚠
- p.Gly134Ala Single submitter ⚠
- p.Gly181Asp Single submitter ⚠
- p.Gly217Arg Single submitter ⚠
- p.Gly220Asp Single submitter ⚠
- p.Gly355Asp Single submitter ⚠
- p.Gly355Val Single submitter ⚠
- p.Gly37Ser Single submitter ⚠
- p.Gly45Glu Single submitter ⚠
- p.Gly60Arg Single submitter ⚠
- p.His11Arg Single submitter ⚠
- p.His16Pro Single submitter ⚠
- p.His386Tyr Single submitter ⚠
- p.Ile236Val Single submitter ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile403Phe Single submitter ⚠
- p.Leu276Gln Single submitter ⚠
- p.Lys210Glu Single submitter ⚠
- p.Lys26Asn Single submitter ⚠
- p.Met107Lys Single submitter ⚠
- p.Met149Arg Single submitter ⚠
- p.Met329Arg Single submitter ⚠
- p.Phe162Val Single submitter ⚠
- p.Phe388Leu Single submitter ⚠
- p.Phe65Ile Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser247Thr Single submitter ⚠
- p.Thr165Ala Single submitter ⚠
- p.Tyr263Cys Single submitter ⚠
- p.Tyr328Cys Single submitter ⚠
- p.Tyr340Cys Single submitter ⚠
- p.Val118Met Single submitter
- p.Val202Leu Single submitter ⚠
- p.Val361Met Single submitter ⚠
- p.Val55Ala Single submitter ⚠