RCOR1 — 58 ClinVar variants
All ClinVar germline RCOR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Likely pathogenic · 4 Benign · 19 Likely benign · 34 Uncertain significance
Full RCOR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RCOR1 p.Ala147Thr Uncertain significance Single submitter
- RCOR1 p.Ala21Val Uncertain significance Single submitter
- RCOR1 p.Ala22Thr Uncertain significance Single submitter
- RCOR1 p.Ala23Val Uncertain significance Single submitter
- RCOR1 p.Ala27Ser Uncertain significance Single submitter
- RCOR1 p.Ala33Val Uncertain significance Single submitter
- RCOR1 p.Ala36Val Uncertain significance Single submitter
- RCOR1 p.Ala39Val Uncertain significance Single submitter
- RCOR1 p.Asn141Ser Uncertain significance Single submitter
- RCOR1 p.Asn270Asp Uncertain significance Single submitter
- RCOR1 p.Asn330Ser Uncertain significance Single submitter
- RCOR1 p.Asp131Tyr Uncertain significance Single submitter
- RCOR1 p.Glu129Gly Uncertain significance Single submitter
- RCOR1 p.Gly134Cys Uncertain significance Single submitter
- RCOR1 p.Ile275Thr Uncertain significance Single submitter
- RCOR1 p.Met4Ile Uncertain significance Single submitter
- RCOR1 p.Ser12Leu Uncertain significance Single submitter
- RCOR1 p.Ser26Ala Uncertain significance Single submitter
- RCOR1 p.Ser35Ala Uncertain significance Single submitter
- RCOR1 p.Thr332Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All RCOR1 variants
Likely pathogenic 1
- c.446-3C>T No assertion criteria Joubert syndrome
Benign 4
- c.498+9A>G Multiple submitters
- p.Ile355= Multiple submitters
- p.Thr189= Multiple submitters
- c.858+14dup Single submitter
Likely benign 19
- p.Ser31= Multiple submitters
- c.1053+12C>A Single submitter
- c.1053+19T>G Single submitter
- c.1189+17C>A Single submitter
- c.1420-15T>C Single submitter
- c.362-19C>T Single submitter
- c.499-12T>C Single submitter
- c.660+12_660+22del Single submitter
- c.780-18C>T Single submitter
- c.859-6A>T Single submitter
- c.859-8T>C Single submitter
- p.Ala154= Single submitter
- p.Ala23= Single submitter
- p.Gln321= Single submitter
- p.Glu265= Single submitter
- p.Leu144= Single submitter
- p.Pro288= Single submitter
- p.Ser26_Ala32del Single submitter
- p.Thr358= Single submitter
Uncertain significance 34
- p.Ala30dup Multiple submitters
- c.1189+6G>C Single submitter
- p.24SA[1] Single submitter
- p.25ASAAA[1] Single submitter
- p.Ala147Thr Single submitter ⚠
- p.Ala21Val Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala27Ser Single submitter ⚠
- p.Ala28_Ala34del Single submitter
- p.Ala30_Ser31insAlaAla Single submitter
- p.Ala33Val Single submitter ⚠
- p.Ala34_Ser35insAlaSerAlaAlaAla Single submitter
- p.Ala36Val Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Ala3Asp Single submitter
- p.Asn141Ser Single submitter ⚠
- p.Asn177His Single submitter
- p.Asn270Asp Single submitter ⚠
- p.Asn330Ser Single submitter ⚠
- p.Asn359Lys Single submitter ⚠
- p.Asp131Tyr Single submitter ⚠
- p.Glu129Gly Single submitter ⚠
- p.Gly134Cys Single submitter ⚠
- p.Ile275Thr Single submitter ⚠
- p.Leu375Phe Single submitter ⚠
- p.Met4Ile Single submitter ⚠
- p.Ser12Leu Single submitter ⚠
- p.Ser24_Ala28del Single submitter
- p.Ser26Ala Single submitter ⚠
- p.Ser328fs Single submitter
- p.Ser35Ala Single submitter ⚠
- p.Ser53del Single submitter
- p.Thr332Ala Single submitter ⚠