NR1H3 — 64 ClinVar variants
All ClinVar germline NR1H3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
1 Pathogenic · 1 Benign · 6 Likely benign · 56 Uncertain significance
Full NR1H3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NR1H3 p.Ala17Val Uncertain significance Single submitter
- NR1H3 p.Ala220Ser Uncertain significance Single submitter
- NR1H3 p.Ala294Thr Uncertain significance Single submitter
- NR1H3 p.Ala391Val Uncertain significance Single submitter
- NR1H3 p.Arg123His Uncertain significance Single submitter
- NR1H3 p.Arg124Gly Uncertain significance Single submitter
- NR1H3 p.Arg154Trp Uncertain significance Single submitter
- NR1H3 p.Arg283Gln Uncertain significance Single submitter
- NR1H3 p.Arg369Pro Uncertain significance Single submitter
- NR1H3 p.Arg84Gln Uncertain significance Single submitter
- NR1H3 p.Asn307Ser Uncertain significance Single submitter
- NR1H3 p.Asp270Tyr Uncertain significance Single submitter
- NR1H3 p.Asp27His Uncertain significance Single submitter
- NR1H3 p.Gln26Arg Uncertain significance Single submitter
- NR1H3 p.Gln375Lys Uncertain significance Single submitter
- NR1H3 p.Glu185Asp Uncertain significance Single submitter
- NR1H3 p.Glu19Lys Uncertain significance Single submitter
- NR1H3 p.Glu324Lys Uncertain significance Single submitter
- NR1H3 p.Glu341Lys Uncertain significance Single submitter
- NR1H3 p.Glu71Asp Uncertain significance Single submitter
- NR1H3 p.Gly309Glu Uncertain significance Single submitter
- NR1H3 p.Gly55Trp Uncertain significance Single submitter
- NR1H3 p.Gly57Arg Uncertain significance Single submitter
- NR1H3 p.Leu192Ser Uncertain significance Single submitter
- NR1H3 p.Leu289Pro Uncertain significance Single submitter
- NR1H3 p.Lys128Gln Uncertain significance Single submitter
- NR1H3 p.Lys433Arg Uncertain significance Single submitter
- NR1H3 p.Pro193Ser Uncertain significance Single submitter
- NR1H3 p.Pro199Arg Uncertain significance Single submitter
- NR1H3 p.Pro199Ser Uncertain significance Single submitter
- NR1H3 p.Pro208Thr Uncertain significance Single submitter
- NR1H3 p.Pro23Thr Uncertain significance Single submitter
- NR1H3 p.Pro338Arg Uncertain significance Single submitter
- NR1H3 p.Pro47Leu Uncertain significance Single submitter
- NR1H3 p.Pro81Ser Uncertain significance Single submitter
- NR1H3 p.Ser29Asn Uncertain significance Single submitter
- NR1H3 p.Ser320Thr Uncertain significance Single submitter
- NR1H3 p.Val100Met Uncertain significance Single submitter
- NR1H3 p.Val126Ile Uncertain significance Single submitter
- NR1H3 p.Val18Glu Uncertain significance Single submitter
- NR1H3 p.Val56Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- NR1H3 p.Arg159Cys Uncertain significance Single submitter
- NR1H3 p.Arg304Gln Uncertain significance Single submitter
- NR1H3 p.Arg304Trp Uncertain significance Single submitter
- NR1H3 p.Ile287Thr Uncertain significance Single submitter
- NR1H3 p.Ile339Val Uncertain significance Single submitter
- NR1H3 p.Lys317Arg Uncertain significance Single submitter
- NR1H3 p.Met298Thr Uncertain significance Single submitter
- NR1H3 p.Met407Ile Uncertain significance Single submitter
- NR1H3 p.Phe365Leu Uncertain significance Single submitter
- NR1H3 p.Ser312Arg Uncertain significance Single submitter
- NR1H3 p.Ser419Arg Uncertain significance Single submitter
- NR1H3 p.Ser419Asn Uncertain significance Single submitter
- NR1H3 p.Val425Leu Uncertain significance Single submitter
All NR1H3 variants
Pathogenic 1
- p.Arg415Gln No assertion criteria multiple sclerosis
Benign 1
- p.Gly52Val Multiple submitters
Likely benign 6
- p.Ala25Thr Single submitter
- p.Ala32Thr Single submitter
- p.Arg69Gly Single submitter
- p.Asn111= Single submitter
- p.His131= Single submitter
- p.Pro13Ser Single submitter
Uncertain significance 56
- p.Ala17Val Single submitter ⚠
- p.Ala220Ser Single submitter ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala391Val Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg124Gly Single submitter ⚠
- p.Arg154Trp Single submitter ⚠
- p.Arg159Cys Single submitter ⚠
- p.Arg247Trp Single submitter
- p.Arg250His Single submitter
- p.Arg283Gln Single submitter ⚠
- p.Arg304Gln Single submitter ⚠
- p.Arg304Trp Single submitter ⚠
- p.Arg369Pro Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn307Ser Single submitter ⚠
- p.Asp270Tyr Single submitter ⚠
- p.Asp27His Single submitter ⚠
- p.Gln26Arg Single submitter ⚠
- p.Gln375Lys Single submitter ⚠
- p.Glu185Asp Single submitter ⚠
- p.Glu19Lys Single submitter ⚠
- p.Glu324Lys Single submitter ⚠
- p.Glu341Lys Single submitter ⚠
- p.Glu71Asp Single submitter ⚠
- p.Gly309Glu Single submitter ⚠
- p.Gly55Trp Single submitter ⚠
- p.Gly57Arg Single submitter ⚠
- p.Ile287Thr Single submitter ⚠
- p.Ile339Val Single submitter ⚠
- p.Leu192Ser Single submitter ⚠
- p.Leu289Pro Single submitter ⚠
- p.Lys128Gln Single submitter ⚠
- p.Lys317Arg Single submitter ⚠
- p.Lys433Arg Single submitter ⚠
- p.Met298Thr Single submitter ⚠
- p.Met407Ile Single submitter ⚠
- p.Phe365Leu Single submitter ⚠
- p.Pro193Ser Single submitter ⚠
- p.Pro199Arg Single submitter ⚠
- p.Pro199Ser Single submitter ⚠
- p.Pro208Thr Single submitter ⚠
- p.Pro23Thr Single submitter ⚠
- p.Pro338Arg Single submitter ⚠
- p.Pro47Leu Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser29Asn Single submitter ⚠
- p.Ser312Arg Single submitter ⚠
- p.Ser320Thr Single submitter ⚠
- p.Ser419Arg Single submitter ⚠
- p.Ser419Asn Single submitter ⚠
- p.Val100Met Single submitter ⚠
- p.Val126Ile Single submitter ⚠
- p.Val18Glu Single submitter ⚠
- p.Val425Leu Single submitter ⚠
- p.Val56Met Single submitter ⚠