RHOXF2 — 32 ClinVar variants
All ClinVar germline RHOXF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Conflicting · 8 Likely benign · 23 Uncertain significance
Full RHOXF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RHOXF2 p.Ala124Thr Uncertain significance Single submitter
- RHOXF2 p.Ala133Gly Uncertain significance Single submitter
- RHOXF2 p.Ala133Thr Uncertain significance Single submitter
- RHOXF2 p.Arg120His Uncertain significance Single submitter
- RHOXF2 p.Arg164Gly Uncertain significance Single submitter
- RHOXF2 p.Asn137Asp Uncertain significance Single submitter
- RHOXF2 p.Glu111Asp Uncertain significance Single submitter
- RHOXF2 p.Glu150Gly Uncertain significance Single submitter
- RHOXF2 p.Glu69Ala Uncertain significance Single submitter
- RHOXF2 p.Gly123Ser Uncertain significance Single submitter
- RHOXF2 p.Gly131Ser Uncertain significance Single submitter
- RHOXF2 p.Gly82Ser Uncertain significance Single submitter
- RHOXF2 p.Gly84Arg Uncertain significance Single submitter
- RHOXF2 p.Gly87Asp Uncertain significance Single submitter
- RHOXF2 p.Leu146Val Uncertain significance Single submitter
- RHOXF2 p.Leu163Arg Uncertain significance Single submitter
- RHOXF2 p.Lys59Arg Uncertain significance Single submitter
- RHOXF2 p.Pro86Leu Uncertain significance Single submitter
- RHOXF2 p.Pro86Ser Uncertain significance Single submitter
- RHOXF2 p.Ser34Leu Uncertain significance Single submitter
- RHOXF2 p.Val125Ile Uncertain significance Single submitter
- RHOXF2 p.Val138Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All RHOXF2 variants
Conflicting classifications of pathogenicity 1
- p.Gly99Ser Single submitter ⚠
Likely benign 8
- p.Asn137= Single submitter
- p.Asn137Ser Single submitter
- p.Asp235Gly Single submitter
- p.Glu156Lys Single submitter
- p.His139Arg Single submitter
- p.Leu94= Single submitter
- p.Ser62= Single submitter
- p.His139Tyr No assertion criteria
Uncertain significance 23
- p.Ala124Thr Single submitter ⚠
- p.Ala133Gly Single submitter ⚠
- p.Ala133Thr Single submitter ⚠
- p.Arg120His Single submitter ⚠
- p.Arg164Gly Single submitter ⚠
- p.Asn137Asp Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Glu150Gly Single submitter ⚠
- p.Glu69Ala Single submitter ⚠
- p.Gly123Ser Single submitter ⚠
- p.Gly131Ser Single submitter ⚠
- p.Gly75Arg Single submitter ⚠
- p.Gly82Ser Single submitter ⚠
- p.Gly84Arg Single submitter ⚠
- p.Gly87Asp Single submitter ⚠
- p.Leu146Val Single submitter ⚠
- p.Leu163Arg Single submitter ⚠
- p.Lys59Arg Single submitter ⚠
- p.Pro86Leu Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Ser34Leu Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val138Ile Single submitter ⚠