RUVBL2 — 59 ClinVar variants
All ClinVar germline RUVBL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
4 Benign · 1 Likely benign · 54 Uncertain significance
Full RUVBL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RUVBL2 p.Arg235His Uncertain significance Multiple submitters
- RUVBL2 p.Ala102Thr Uncertain significance Single submitter
- RUVBL2 p.Ala122Val Uncertain significance Single submitter
- RUVBL2 p.Ala151Thr Uncertain significance Single submitter
- RUVBL2 p.Ala259Val Uncertain significance Single submitter
- RUVBL2 p.Ala2Val Uncertain significance Single submitter
- RUVBL2 p.Ala36Thr Uncertain significance Single submitter
- RUVBL2 p.Ala386Val Uncertain significance Single submitter
- RUVBL2 p.Ala449Thr Uncertain significance Single submitter
- RUVBL2 p.Ala6Gly Uncertain significance Single submitter
- RUVBL2 p.Arg207His Uncertain significance Single submitter
- RUVBL2 p.Arg253Cys Uncertain significance Single submitter
- RUVBL2 p.Arg253His Uncertain significance Single submitter
- RUVBL2 p.Arg336Gln Uncertain significance Single submitter
- RUVBL2 p.Arg400Cys Uncertain significance Single submitter
- RUVBL2 p.Arg416Cys Uncertain significance Single submitter
- RUVBL2 p.Arg64Gln Uncertain significance Single submitter
- RUVBL2 p.Asn453Ser Uncertain significance Single submitter
- RUVBL2 p.Asp248Asn Uncertain significance Single submitter
- RUVBL2 p.Asp435Glu Uncertain significance Single submitter
- RUVBL2 p.Ile103Val Uncertain significance Single submitter
- RUVBL2 p.Ile137Met Uncertain significance Single submitter
- RUVBL2 p.Lys157Glu Uncertain significance Single submitter
- RUVBL2 p.Lys160Arg Uncertain significance Single submitter
- RUVBL2 p.Lys201Arg Uncertain significance Single submitter
- RUVBL2 p.Ser363Asn Uncertain significance Single submitter
- RUVBL2 p.Ser363Gly Uncertain significance Single submitter
- RUVBL2 p.Thr367Met Uncertain significance Single submitter
- RUVBL2 p.Thr8Ala Uncertain significance Single submitter
- RUVBL2 p.Val225Ala Uncertain significance Single submitter
- RUVBL2 p.Val225Met Uncertain significance Single submitter
- RUVBL2 p.Val242Met Uncertain significance Single submitter
- RUVBL2 p.Val249Ile Uncertain significance Single submitter
- RUVBL2 p.Val272Ile Uncertain significance Single submitter
- RUVBL2 p.Val47Met Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- RUVBL2 p.Ala151Glu Uncertain significance Single submitter
- RUVBL2 p.Arg149Gln Uncertain significance Single submitter
- RUVBL2 p.Arg14His Uncertain significance Single submitter
- RUVBL2 p.Arg372Cys Uncertain significance Single submitter
- RUVBL2 p.Arg54Gln Uncertain significance Single submitter
- RUVBL2 p.Glu376Lys Uncertain significance Single submitter
- RUVBL2 p.Glu458Lys Uncertain significance Single submitter
- RUVBL2 p.Ile250Val Uncertain significance Single submitter
- RUVBL2 p.Pro11Leu Uncertain significance Single submitter
- RUVBL2 p.Ser156Phe Uncertain significance Single submitter
- RUVBL2 p.Ser243Ala Uncertain significance Single submitter
- RUVBL2 p.Ser363Cys Uncertain significance Single submitter
- RUVBL2 p.Thr166Ala Uncertain significance Single submitter
- RUVBL2 p.Val58Met Uncertain significance Single submitter
All RUVBL2 variants
Benign 4
Likely benign 1
- p.Tyr215= Single submitter
Uncertain significance 54
- p.Arg235His Multiple submitters ⚠
- p.Ala102Thr Single submitter ⚠
- p.Ala122Val Single submitter ⚠
- p.Ala151Glu Single submitter ⚠
- p.Ala151Thr Single submitter ⚠
- p.Ala259Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Ala386Val Single submitter ⚠
- p.Ala402Thr Single submitter
- p.Ala449Thr Single submitter ⚠
- p.Ala6Gly Single submitter ⚠
- p.Arg130His Single submitter
- p.Arg149Gln Single submitter ⚠
- p.Arg14His Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg253Cys Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg372Cys Single submitter ⚠
- p.Arg400Cys Single submitter ⚠
- p.Arg414Trp Single submitter
- p.Arg416Cys Single submitter ⚠
- p.Arg54Gln Single submitter ⚠
- p.Arg64Gln Single submitter ⚠
- p.Asn453Ser Single submitter ⚠
- p.Asp248Asn Single submitter ⚠
- p.Asp435Glu Single submitter ⚠
- p.Glu376Lys Single submitter ⚠
- p.Glu458Lys Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile137Met Single submitter ⚠
- p.Ile250Val Single submitter ⚠
- p.Ile292Asn Single submitter
- p.Ile325Met Single submitter
- p.Lys157Glu Single submitter ⚠
- p.Lys160Arg Single submitter ⚠
- p.Lys201Arg Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Ser156Phe Single submitter ⚠
- p.Ser243Ala Single submitter ⚠
- p.Ser363Asn Single submitter ⚠
- p.Ser363Cys Single submitter ⚠
- p.Ser363Gly Single submitter ⚠
- p.Thr166Ala Single submitter ⚠
- p.Thr367Met Single submitter ⚠
- p.Thr8Ala Single submitter ⚠
- p.Val225Ala Single submitter ⚠
- p.Val225Met Single submitter ⚠
- p.Val242Met Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val272Ile Single submitter ⚠
- p.Val47Met Single submitter ⚠
- p.Val58Met Single submitter ⚠