RNPEP — 73 ClinVar variants
All ClinVar germline RNPEP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
2 Benign · 2 Likely benign · 69 Uncertain significance
Full RNPEP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RNPEP p.Ala365Thr Uncertain significance Single submitter
- RNPEP p.Ala514Val Uncertain significance Single submitter
- RNPEP p.Ala622Thr Uncertain significance Single submitter
- RNPEP p.Arg176Trp Uncertain significance Single submitter
- RNPEP p.Arg376Gln Uncertain significance Single submitter
- RNPEP p.Asn340Ser Uncertain significance Single submitter
- RNPEP p.Asn347Ser Uncertain significance Single submitter
- RNPEP p.Asp183Asn Uncertain significance Single submitter
- RNPEP p.Asp583Asn Uncertain significance Single submitter
- RNPEP p.Cys369Trp Uncertain significance Single submitter
- RNPEP p.Cys369Tyr Uncertain significance Single submitter
- RNPEP p.Cys419Ser Uncertain significance Single submitter
- RNPEP p.Gln544Glu Uncertain significance Single submitter
- RNPEP p.Glu275Gly Uncertain significance Single submitter
- RNPEP p.Glu343Asp Uncertain significance Single submitter
- RNPEP p.Gly299Glu Uncertain significance Single submitter
- RNPEP p.Gly402Asp Uncertain significance Single submitter
- RNPEP p.Gly614Ser Uncertain significance Single submitter
- RNPEP p.His325Arg Uncertain significance Single submitter
- RNPEP p.Ile267Val Uncertain significance Single submitter
- RNPEP p.Ile522Val Uncertain significance Single submitter
- RNPEP p.Leu277Phe Uncertain significance Single submitter
- RNPEP p.Leu277Pro Uncertain significance Single submitter
- RNPEP p.Lys468Thr Uncertain significance Single submitter
- RNPEP p.Lys602Gln Uncertain significance Single submitter
- RNPEP p.Met383Val Uncertain significance Single submitter
- RNPEP p.Met519Ile Uncertain significance Single submitter
- RNPEP p.Phe437Leu Uncertain significance Single submitter
- RNPEP p.Pro227His Uncertain significance Single submitter
- RNPEP p.Pro310Leu Uncertain significance Single submitter
- RNPEP p.Pro493Thr Uncertain significance Single submitter
- RNPEP p.Pro504Ala Uncertain significance Single submitter
- RNPEP p.Pro606Arg Uncertain significance Single submitter
- RNPEP p.Thr351Ile Uncertain significance Single submitter
- RNPEP p.Thr368Ser Uncertain significance Single submitter
- RNPEP p.Thr374Met Uncertain significance Single submitter
- RNPEP p.Tyr281His Uncertain significance Single submitter
- RNPEP p.Tyr409Cys Uncertain significance Single submitter
- RNPEP p.Tyr640His Uncertain significance Single submitter
- RNPEP p.Val421Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- RNPEP p.Arg317Cys Benign Multiple submitters
- RNPEP p.Ala258Val Uncertain significance Single submitter
- RNPEP p.Ala339Thr Uncertain significance Single submitter
- RNPEP p.Ala354Thr Uncertain significance Single submitter
- RNPEP p.Arg380His Uncertain significance Single submitter
- RNPEP p.Arg396Gly Uncertain significance Single submitter
- RNPEP p.Arg396His Uncertain significance Single submitter
- RNPEP p.Arg567Gln Likely benign Single submitter
- RNPEP p.Arg572Gln Uncertain significance Single submitter
- RNPEP p.Asp453Ala Uncertain significance Single submitter
- RNPEP p.Asp494Val Uncertain significance Single submitter
- RNPEP p.Asp558Gly Uncertain significance Single submitter
- RNPEP p.Gln433Glu Uncertain significance Single submitter
- RNPEP p.Glu156Lys Uncertain significance Single submitter
- RNPEP p.Gly265Arg Uncertain significance Single submitter
- RNPEP p.Gly614Val Uncertain significance Single submitter
- RNPEP p.Ile195Thr Uncertain significance Single submitter
- RNPEP p.Ile522Thr Uncertain significance Single submitter
- RNPEP p.Leu501Phe Uncertain significance Single submitter
- RNPEP p.Leu539Val Uncertain significance Single submitter
- RNPEP p.Phe218Leu Uncertain significance Single submitter
- RNPEP p.Pro253Arg Uncertain significance Single submitter
- RNPEP p.Pro547Leu Uncertain significance Single submitter
- RNPEP p.Ser318Thr Uncertain significance Single submitter
- RNPEP p.Ser615Asn Uncertain significance Single submitter
- RNPEP p.Tyr423Phe Uncertain significance Single submitter
- RNPEP p.Val187Ile Uncertain significance Single submitter
- RNPEP p.Val308Ile Uncertain significance Single submitter
- RNPEP p.Val397Met Uncertain significance Single submitter
- RNPEP p.Val403Ile Uncertain significance Single submitter
- RNPEP p.Val645Met Uncertain significance Single submitter
All RNPEP variants
Benign 2
- p.Arg317Cys Multiple submitters ⚠
- p.Thr184= Multiple submitters
Likely benign 2
- p.Arg567Gln Single submitter ⚠
- p.Asp457Glu Single submitter
Uncertain significance 69
- p.Ala258Val Single submitter ⚠
- p.Ala339Thr Single submitter ⚠
- p.Ala354Thr Single submitter ⚠
- p.Ala365Thr Single submitter ⚠
- p.Ala514Val Single submitter ⚠
- p.Ala622Thr Single submitter ⚠
- p.Arg176Trp Single submitter ⚠
- p.Arg376Gln Single submitter ⚠
- p.Arg380His Single submitter ⚠
- p.Arg396Gly Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg572Gln Single submitter ⚠
- p.Asn340Ser Single submitter ⚠
- p.Asn347Ser Single submitter ⚠
- p.Asp183Asn Single submitter ⚠
- p.Asp453Ala Single submitter ⚠
- p.Asp494Val Single submitter ⚠
- p.Asp558Gly Single submitter ⚠
- p.Asp583Asn Single submitter ⚠
- p.Cys369Trp Single submitter ⚠
- p.Cys369Tyr Single submitter ⚠
- p.Cys419Ser Single submitter ⚠
- p.Gln433Glu Single submitter ⚠
- p.Gln544Glu Single submitter ⚠
- p.Glu156Lys Single submitter ⚠
- p.Glu275Gly Single submitter ⚠
- p.Glu343Asp Single submitter ⚠
- p.Gly265Arg Single submitter ⚠
- p.Gly299Glu Single submitter ⚠
- p.Gly402Asp Single submitter ⚠
- p.Gly614Ser Single submitter ⚠
- p.Gly614Val Single submitter ⚠
- p.His325Arg Single submitter ⚠
- p.Ile195Thr Single submitter ⚠
- p.Ile267Val Single submitter ⚠
- p.Ile522Thr Single submitter ⚠
- p.Ile522Val Single submitter ⚠
- p.Leu277Phe Single submitter ⚠
- p.Leu277Pro Single submitter ⚠
- p.Leu501Phe Single submitter ⚠
- p.Leu539Val Single submitter ⚠
- p.Lys468Thr Single submitter ⚠
- p.Lys602Gln Single submitter ⚠
- p.Met383Val Single submitter ⚠
- p.Met519Ile Single submitter ⚠
- p.Phe218Leu Single submitter ⚠
- p.Phe437Leu Single submitter ⚠
- p.Pro227His Single submitter ⚠
- p.Pro253Arg Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro493Thr Single submitter ⚠
- p.Pro504Ala Single submitter ⚠
- p.Pro547Leu Single submitter ⚠
- p.Pro606Arg Single submitter ⚠
- p.Ser318Thr Single submitter ⚠
- p.Ser615Asn Single submitter ⚠
- p.Thr351Ile Single submitter ⚠
- p.Thr368Ser Single submitter ⚠
- p.Thr374Met Single submitter ⚠
- p.Tyr281His Single submitter ⚠
- p.Tyr409Cys Single submitter ⚠
- p.Tyr423Phe Single submitter ⚠
- p.Tyr640His Single submitter ⚠
- p.Val187Ile Single submitter ⚠
- p.Val308Ile Single submitter ⚠
- p.Val397Met Single submitter ⚠
- p.Val403Ile Single submitter ⚠
- p.Val421Ile Single submitter ⚠
- p.Val645Met Single submitter ⚠