RNF2 — 40 ClinVar variants
All ClinVar germline RNF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Pathogenic · 1 Benign · 3 Likely benign · 35 Uncertain significance
Full RNF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RNF2 p.Asn8Tyr Uncertain significance Multiple submitters
- RNF2 p.Ala215Ser Uncertain significance Single submitter
- RNF2 p.Ala264Thr Uncertain significance Single submitter
- RNF2 p.Ala4Val Uncertain significance Single submitter
- RNF2 p.Ala73Val Uncertain significance Single submitter
-
RNF2 p.Arg70His
Uncertain significance
Single submitter
RNF2-associated neurodevelopmental condition
- RNF2 p.Asn132Ser Uncertain significance Single submitter
- RNF2 p.Glu206Asp Uncertain significance Single submitter
- RNF2 p.His134Arg Uncertain significance Single submitter
- RNF2 p.Ile32Val Uncertain significance Single submitter
- RNF2 p.Met220Val Uncertain significance Single submitter
- RNF2 p.Met62Val Uncertain significance Single submitter
- RNF2 p.Pro115Arg Uncertain significance Single submitter
- RNF2 p.Ser274Asn Uncertain significance Single submitter
- RNF2 p.Thr184Ile Uncertain significance Single submitter
-
RNF2 p.Thr197Ile
Uncertain significance
Single submitter
Luo-Schoch-Yamamoto syndrome
- RNF2 p.Thr199Ala Uncertain significance Single submitter
- RNF2 p.Thr245Met Uncertain significance Single submitter
-
RNF2 p.Tyr247His
Uncertain significance
Single submitter
Luo-Schoch-Yamamoto syndrome
-
RNF2 p.Val127Ile
Uncertain significance
Single submitter
Luo-Schoch-Yamamoto syndrome
- RNF2 p.Val5Leu Uncertain significance Single submitter
- RNF2 p.Val5Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- RNF2 p.Thr303Pro Uncertain significance Multiple submitters
- RNF2 p.Ala330Val Uncertain significance Single submitter
- RNF2 p.Cys179Arg Uncertain significance Single submitter
- RNF2 p.Met325Ile Uncertain significance Single submitter
- RNF2 p.Ser251Cys Uncertain significance Single submitter
- RNF2 p.Thr27Ile Uncertain significance Single submitter
-
RNF2 p.Val256Leu
Uncertain significance
Single submitter
Luo-Schoch-Yamamoto syndrome
-
RNF2 p.Gln301Arg
Uncertain significance
No assertion criteria
Luo-Schoch-Yamamoto syndrome
-
RNF2 p.Thr332Lys
Uncertain significance
No assertion criteria
RNF2-related disorder
All RNF2 variants
Pathogenic 1
- p.Ser82Arg No assertion criteria Luo-Schoch-Yamamoto syndrome
Benign 1
- p.Asn322= Single submitter
Likely benign 3
- p.Asn8= Single submitter
- p.Met220fs Single submitter Luo-Schoch-Yamamoto syndrome
- p.Ser20= Single submitter
Uncertain significance 35
- p.Asn8Tyr Multiple submitters ⚠
- p.Thr303Pro Multiple submitters ⚠
- c.248+11A>T Single submitter
- c.465-1G>A Single submitter Luo-Schoch-Yamamoto syndrome
- c.88-20_88-18del Single submitter Luo-Schoch-Yamamoto syndrome
- p.Ala215Ser Single submitter ⚠
- p.Ala264Thr Single submitter ⚠
- p.Ala330Val Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Arg70His Single submitter RNF2-associated neurodevelopmental condition ⚠
- p.Asn132Ser Single submitter ⚠
- p.Cys179Arg Single submitter ⚠
- p.Glu206Asp Single submitter ⚠
- p.His134Arg Single submitter ⚠
- p.Ile32Val Single submitter ⚠
- p.Lys336= Single submitter RNF2-related disorder
- p.Met220Val Single submitter ⚠
- p.Met325Ile Single submitter ⚠
- p.Met62Val Single submitter ⚠
- p.Pro115Arg Single submitter ⚠
- p.Ser251Cys Single submitter ⚠
- p.Ser274Asn Single submitter ⚠
- p.Thr184Ile Single submitter ⚠
- p.Thr197Ile Single submitter Luo-Schoch-Yamamoto syndrome ⚠
- p.Thr199Ala Single submitter ⚠
- p.Thr245Met Single submitter ⚠
- p.Thr27Ile Single submitter ⚠
- p.Tyr247His Single submitter Luo-Schoch-Yamamoto syndrome ⚠
- p.Val127Ile Single submitter Luo-Schoch-Yamamoto syndrome ⚠
- p.Val256Leu Single submitter Luo-Schoch-Yamamoto syndrome ⚠
- p.Val5Leu Single submitter ⚠
- p.Val5Met Single submitter ⚠
- p.Gln301Arg No assertion criteria Luo-Schoch-Yamamoto syndrome ⚠
- p.Thr332Lys No assertion criteria RNF2-related disorder ⚠