RXRB — 62 ClinVar variants
All ClinVar germline RXRB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
4 Benign · 10 Likely benign · 48 Uncertain significance
Full RXRB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RXRB p.Ala274Val Uncertain significance Single submitter
- RXRB p.Ala292Pro Uncertain significance Single submitter
- RXRB p.Ala52Gly Uncertain significance Single submitter
- RXRB p.Ala54Gly Uncertain significance Single submitter
- RXRB p.Arg242Trp Uncertain significance Single submitter
- RXRB p.Arg25Gln Uncertain significance Single submitter
- RXRB p.Arg35Pro Uncertain significance Single submitter
- RXRB p.Arg429Gly Uncertain significance Single submitter
- RXRB p.Arg497Gln Uncertain significance Single submitter
- RXRB p.Asp288Glu Uncertain significance Single submitter
- RXRB p.Cys265Tyr Uncertain significance Single submitter
- RXRB p.Gln18Arg Uncertain significance Single submitter
- RXRB p.Glu64Gln Uncertain significance Single submitter
- RXRB p.Gly17Arg Uncertain significance Single submitter
- RXRB p.Gly188Ser Uncertain significance Single submitter
- RXRB p.Gly209Ala Uncertain significance Single submitter
- RXRB p.Gly324Glu Uncertain significance Single submitter
- RXRB p.Gly66Arg Uncertain significance Single submitter
- RXRB p.Gly77Arg Uncertain significance Single submitter
- RXRB p.Leu168His Uncertain significance Single submitter
- RXRB p.Leu493Phe Uncertain significance Single submitter
- RXRB p.Lys478Gln Uncertain significance Single submitter
- RXRB p.Met431Ile Uncertain significance Single submitter
- RXRB p.Phe9Ser Uncertain significance Single submitter
- RXRB p.Pro103Ser Uncertain significance Single submitter
- RXRB p.Pro106Ser Uncertain significance Single submitter
- RXRB p.Pro107Thr Uncertain significance Single submitter
- RXRB p.Pro111Leu Uncertain significance Single submitter
- RXRB p.Pro128Ala Uncertain significance Single submitter
- RXRB p.Pro128Thr Uncertain significance Single submitter
- RXRB p.Pro147Thr Uncertain significance Single submitter
- RXRB p.Pro296His Uncertain significance Single submitter
- RXRB p.Pro449Leu Uncertain significance Single submitter
- RXRB p.Pro529Ser Uncertain significance Single submitter
- RXRB p.Pro88Ser Uncertain significance Single submitter
- RXRB p.Ser142Phe Uncertain significance Single submitter
- RXRB p.Ser158Asn Uncertain significance Single submitter
- RXRB p.Ser458Asn Uncertain significance Single submitter
- RXRB p.Ser99Thr Uncertain significance Single submitter
- RXRB p.Thr325Ala Uncertain significance Single submitter
- RXRB p.Val391Ile Uncertain significance Single submitter
- RXRB p.Val53Leu Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All RXRB variants
Benign 4
- c.1455-10_1455-5dup Single submitter
- p.Phe384= Single submitter
- c.641-6C>G No assertion criteria RXRB-related disorder
- p.Cys208= No assertion criteria RXRB-related disorder
Likely benign 10
- p.Ala292Thr Single submitter
- p.Gly287Ala Single submitter
- p.Gly321Ser Single submitter
- p.Val319Ile Single submitter
- p.Val53Ala Single submitter
- c.16+9A>C No assertion criteria RXRB-related disorder
- p.Ala398= No assertion criteria RXRB-related disorder
- p.His402= No assertion criteria RXRB-related disorder
- p.Pro104Ser No assertion criteria RXRB-related disorder
- p.Thr473= No assertion criteria RXRB-related disorder
Uncertain significance 48
- c.235+1G>T Single submitter
- p.Ala274Val Single submitter ⚠
- p.Ala292Pro Single submitter ⚠
- p.Ala52Gly Single submitter ⚠
- p.Ala54Gly Single submitter ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg35Pro Single submitter ⚠
- p.Arg35Trp Single submitter
- p.Arg429Gly Single submitter ⚠
- p.Arg497Gln Single submitter ⚠
- p.Asp288Glu Single submitter ⚠
- p.Cys265Tyr Single submitter ⚠
- p.Gln18Arg Single submitter ⚠
- p.Glu64Gln Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly188Ser Single submitter ⚠
- p.Gly209Ala Single submitter ⚠
- p.Gly324Glu Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.Gly77Arg Single submitter ⚠
- p.Ile389Thr Single submitter ⚠
- p.Leu168His Single submitter ⚠
- p.Leu493Phe Single submitter ⚠
- p.Lys478Gln Single submitter ⚠
- p.Met431Ile Single submitter ⚠
- p.Phe9Ser Single submitter ⚠
- p.Pro103Arg Single submitter ⚠
- p.Pro103Ser Single submitter ⚠
- p.Pro106Ser Single submitter ⚠
- p.Pro107Thr Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro121Leu Single submitter ⚠
- p.Pro123Thr Single submitter ⚠
- p.Pro128Ala Single submitter ⚠
- p.Pro128Thr Single submitter ⚠
- p.Pro147Thr Single submitter ⚠
- p.Pro296His Single submitter ⚠
- p.Pro449Leu Single submitter ⚠
- p.Pro529Ser Single submitter ⚠
- p.Pro88Ser Single submitter ⚠
- p.Ser142Phe Single submitter ⚠
- p.Ser158Asn Single submitter ⚠
- p.Ser458Asn Single submitter ⚠
- p.Ser99Thr Single submitter ⚠
- p.Thr325Ala Single submitter ⚠
- p.Val391Ile Single submitter ⚠
- p.Val53Leu Single submitter ⚠