RPL13A — 39 ClinVar variants
All ClinVar germline RPL13A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
4 Benign · 3 Likely benign · 32 Uncertain significance
Full RPL13A 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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL13A p.Ala2Gly Uncertain significance Single submitter
- RPL13A p.Ala2Ser Uncertain significance Single submitter
- RPL13A p.Arg101Cys Uncertain significance Single submitter
- RPL13A p.Arg140Cys Uncertain significance Single submitter
- RPL13A p.Arg140His Uncertain significance Single submitter
- RPL13A p.Arg18His Uncertain significance Single submitter
- RPL13A p.Arg59His Uncertain significance Single submitter
- RPL13A p.Glu3Gly Uncertain significance Single submitter
- RPL13A p.Ile189Thr Uncertain significance Single submitter
- RPL13A p.Lys183Glu Uncertain significance Single submitter
- RPL13A p.Met175Leu Uncertain significance Single submitter
- RPL13A p.Met175Val Uncertain significance Single submitter
- RPL13A p.Phe135Val Uncertain significance Single submitter
- RPL13A p.Pro110Leu Uncertain significance Single submitter
- RPL13A p.Tyr137Cys Uncertain significance Single submitter
- RPL13A p.Val119Met Uncertain significance Single submitter
- RPL13A p.Val195Ile Uncertain significance Single submitter
- RPL13A p.Val203Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- RPL13A p.Arg128His Uncertain significance Single submitter
- RPL13A p.Arg178Gln Uncertain significance Single submitter
- RPL13A p.Arg178Trp Uncertain significance Single submitter
- RPL13A p.Arg68Gln Uncertain significance Single submitter
- RPL13A p.Glu144Gln Uncertain significance Single submitter
- RPL13A p.Gly40Asp Uncertain significance Single submitter
- RPL13A p.His90Tyr Uncertain significance Single submitter
- RPL13A p.Leu9Phe Uncertain significance Single submitter
- RPL13A p.Phe105Leu Uncertain significance Single submitter
- RPL13A p.Thr92Ser Uncertain significance Single submitter
- RPL13A p.Val120Leu Uncertain significance Single submitter
- RPL13A p.Val185Met Uncertain significance Single submitter
- RPL13A p.Val36Ile Uncertain significance Single submitter
All RPL13A variants
Benign 4
- c.403-4G>A Multiple submitters
- c.403-5C>G Multiple submitters
- c.89-7C>T Multiple submitters
- p.Ala97= Single submitter
Likely benign 3
- c.257-3C>T Single submitter
- p.Gln180= Single submitter
- p.Thr132= Single submitter
Uncertain significance 32
- p.Ala2Gly Single submitter ⚠
- p.Ala2Ser Single submitter ⚠
- p.Arg101Cys Single submitter ⚠
- p.Arg128His Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Glu144Gln Single submitter ⚠
- p.Glu3Gly Single submitter ⚠
- p.Gly40Asp Single submitter ⚠
- p.His90Tyr Single submitter ⚠
- p.Ile189Thr Single submitter ⚠
- p.Ile43Val Single submitter
- p.Leu9Phe Single submitter ⚠
- p.Lys183Glu Single submitter ⚠
- p.Met175Leu Single submitter ⚠
- p.Met175Val Single submitter ⚠
- p.Phe105Leu Single submitter ⚠
- p.Phe135Val Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Thr92Ser Single submitter ⚠
- p.Tyr137Cys Single submitter ⚠
- p.Val119Met Single submitter ⚠
- p.Val120Leu Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val195Ile Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val36Ile Single submitter ⚠