RPL19 — 138 ClinVar variants
All ClinVar germline RPL19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
3 Benign · 4 Benign/Likely benign · 83 Likely benign · 48 Uncertain significance
Full RPL19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL19 p.Ala11Ser Uncertain significance Single submitter
- RPL19 p.Arg104Gln Uncertain significance Single submitter
- RPL19 p.Arg110His Uncertain significance Single submitter
- RPL19 p.Arg16Gly Uncertain significance Single submitter
- RPL19 p.Arg42Gln Uncertain significance Single submitter
- RPL19 p.Arg60Gln Uncertain significance Single submitter
- RPL19 p.Arg70Cys Uncertain significance Single submitter
- RPL19 p.Arg70His Uncertain significance Single submitter
- RPL19 p.Asn30Ser Uncertain significance Single submitter
- RPL19 p.Asp116Asn Uncertain significance Single submitter
- RPL19 p.Glu111Gly Uncertain significance Single submitter
- RPL19 p.Ile184Met Uncertain significance Single submitter
- RPL19 p.Ile185Thr Uncertain significance Single submitter
- RPL19 p.Ile41Thr Uncertain significance Single submitter
- RPL19 p.Leu177Phe Uncertain significance Single submitter
- RPL19 p.Lys133Arg Uncertain significance Single submitter
- RPL19 p.Lys171Arg Uncertain significance Single submitter
- RPL19 p.Lys21Glu Uncertain significance Single submitter
- RPL19 p.Ser12Cys Uncertain significance Single submitter
- RPL19 p.Ser13Ile Uncertain significance Single submitter
- RPL19 p.Ser37Ala Uncertain significance Single submitter
- RPL19 p.Thr187Ile Uncertain significance Single submitter
- RPL19 p.Val127Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- RPL19 p.Arg71Gln Uncertain significance Single submitter
- RPL19 p.Arg97Lys Uncertain significance Single submitter
- RPL19 p.Asn27Ser Uncertain significance Single submitter
- RPL19 p.Asn34Ser Uncertain significance Single submitter
- RPL19 p.Glu175Ala Uncertain significance Single submitter
- RPL19 p.Ile184Thr Uncertain significance Single submitter
- RPL19 p.Leu4Pro Uncertain significance Single submitter
- RPL19 p.Leu68Phe Uncertain significance Single submitter
- RPL19 p.Lys72Asn Uncertain significance Single submitter
- RPL19 p.Thr67Ile Uncertain significance Single submitter
All RPL19 variants
Benign 3
- p.Arg64= Multiple submitters Diamond-Blackfan anemia
- p.Ala179Val Single submitter
- p.Ile185Phe Single submitter
Benign/Likely benign 4
- c.236-11C>T Multiple submitters
- p.Arg74= Multiple submitters Diamond-Blackfan anemia
- p.Gln178= Multiple submitters Diamond-Blackfan anemia
- p.Lys195= Multiple submitters Diamond-Blackfan anemia
Likely benign 83
- c.112+16C>G Multiple submitters
- c.113-19G>A Multiple submitters
- c.5+19C>T Multiple submitters
- p.Ala179= Multiple submitters Diamond-Blackfan anemia
- p.Arg42= Multiple submitters Diamond-Blackfan anemia
- p.Glu193= Multiple submitters Diamond-Blackfan anemia
- p.Glu31= Multiple submitters Diamond-Blackfan anemia
- p.Ile142= Multiple submitters Diamond-Blackfan anemia
- p.Leu105= Multiple submitters Diamond-Blackfan anemia
- p.Leu123= Multiple submitters Diamond-Blackfan anemia
- p.Leu188= Multiple submitters Diamond-Blackfan anemia
- p.Lys152= Multiple submitters Diamond-Blackfan anemia
- p.Lys181= Multiple submitters
- p.Thr56= Multiple submitters
- c.112+12G>A Single submitter
- c.112+15T>C Single submitter
- c.112+8C>G Single submitter
- c.112+8C>T Single submitter
- c.113-12A>G Single submitter
- c.113-17G>A Single submitter
- c.235+13A>G Single submitter
- c.235+16T>A Single submitter
- c.235+18C>G Single submitter
- c.235+19T>C Single submitter
- c.235+20_235+22del Single submitter
- c.235+9G>C Single submitter
- c.236-13A>G Single submitter
- c.236-8C>G Single submitter
- c.356+18G>T Single submitter
- c.356+20C>A Single submitter
- c.356+9A>G Single submitter
- c.357-12T>G Single submitter
- c.357-13G>A Single submitter
- c.357-14C>T Single submitter
- c.357-6C>G Single submitter
- c.357-8C>T Single submitter
- c.468-6G>A Single submitter
- c.468-9C>T Single submitter
- c.5+10A>T Single submitter
- c.5+12C>G Single submitter
- c.5+16T>G Single submitter
- c.5+17C>G Single submitter
- c.5+17C>T Single submitter
- c.5+18_5+20del Single submitter
- c.5+18T>A Single submitter
- c.5+19C>G Single submitter
- c.5+20C>G Single submitter
- c.5+20C>T Single submitter
- c.5+7G>A Single submitter
- c.5+8C>T Single submitter
- c.5+9G>A Single submitter
- c.6-10G>C Single submitter
- c.6-12C>T Single submitter
- c.6-17G>C Single submitter
- c.6-20_6-18del Single submitter
- c.6-4C>T Single submitter
- c.6-7dup Single submitter
- p.Ala11= Single submitter
- p.Ala161= Single submitter
- p.Ala33= Single submitter
- p.Arg104= Single submitter
- p.Arg170= Single submitter Diamond-Blackfan anemia
- p.Arg70= Single submitter Diamond-Blackfan anemia
- p.Arg9= Single submitter
- p.Arg97= Single submitter
- p.Asn30= Single submitter
- p.Cys17= Single submitter
- p.Glu182= Single submitter
- p.Glu191= Single submitter
- p.Glu192= Single submitter
- p.Gly18= Single submitter
- p.Gly73= Single submitter
- p.Ile115= Single submitter
- p.Ile32= Single submitter
- p.Leu10= Single submitter
- p.Leu106= Single submitter
- p.Leu24= Single submitter
- p.Lys126= Single submitter Diamond-Blackfan anemia
- p.Lys190= Single submitter
- p.Ser13= Single submitter
- p.Thr84= Single submitter
- c.*3C>G No assertion criteria RPL19-related disorder
- c.*9A>C No assertion criteria RPL19-related disorder
Uncertain significance 48
- c.113-3C>T Single submitter
- c.235+12_235+13delinsGG Single submitter
- c.235+3A>G Single submitter
- c.5+3G>A Single submitter
- c.5+6G>A Single submitter
- p.Ala11Ser Single submitter ⚠
- p.Arg104Gln Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg117His Single submitter
- p.Arg16Cys Single submitter
- p.Arg16Gly Single submitter ⚠
- p.Arg16Ile Single submitter
- p.Arg38= Single submitter
- p.Arg42Gln Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg70Cys Single submitter ⚠
- p.Arg70His Single submitter ⚠
- p.Arg71Gln Single submitter ⚠
- p.Arg97Lys Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asn30Ser Single submitter ⚠
- p.Asn34Ser Single submitter ⚠
- p.Asp116Asn Single submitter ⚠
- p.Glu111Gly Single submitter ⚠
- p.Glu175Ala Single submitter ⚠
- p.Ile184Met Single submitter ⚠
- p.Ile184Thr Single submitter ⚠
- p.Ile185Thr Single submitter ⚠
- p.Ile41Thr Single submitter ⚠
- p.Leu177Phe Single submitter ⚠
- p.Leu188fs Single submitter
- p.Leu4Pro Single submitter ⚠
- p.Leu68Phe Single submitter ⚠
- p.Lys133Arg Single submitter ⚠
- p.Lys171Arg Single submitter ⚠
- p.Lys21Glu Single submitter ⚠
- p.Lys72Asn Single submitter ⚠
- p.Met1Arg Single submitter
- p.Met1Ile Single submitter
- p.Met1Leu Single submitter
- p.Met76Val Single submitter
- p.Ser12Cys Single submitter ⚠
- p.Ser13Ile Single submitter ⚠
- p.Ser37Ala Single submitter ⚠
- p.Thr187Ile Single submitter ⚠
- p.Thr56Met Single submitter
- p.Thr67Ile Single submitter ⚠
- p.Val127Ala Single submitter ⚠