RPL11 — 203 ClinVar variants
All ClinVar germline RPL11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
32 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 13 Conflicting · 12 Benign · 6 Benign/Likely benign · 63 Likely benign · 64 Uncertain significance
Full RPL11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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RPL11 p.Arg146His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL11 p.Asn23Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL11 p.Gln5Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL11 p.Lys96Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL11 p.Thr73Ala
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL11 p.Ala2Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Ala79Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL11 p.Arg136Lys Uncertain significance Single submitter
-
RPL11 p.Arg146Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Arg146Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Arg156Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Arg75Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RPL11 p.Arg90Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Asn10Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 7
-
RPL11 p.Cys72Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Gln3Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Gln3His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 7
-
RPL11 p.Glu28Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 7
-
RPL11 p.Gly152Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Ile173Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Ile68Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL11 p.Leu15Phe Uncertain significance Single submitter
-
RPL11 p.Lys144Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Lys169Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Lys19Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 7
-
RPL11 p.Lys8Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL11 p.Phe99Leu Uncertain significance Single submitter
-
RPL11 p.Pro48Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL11 p.Ser100Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL11 p.Val133Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
-
RPL11 p.Glu160Gln
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL11 p.Ile151Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL11 p.Arg164Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL11 p.Asp101Ala Uncertain significance Single submitter
-
RPL11 p.Asp101Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 7
-
RPL11 p.Phe130Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 7
-
RPL11 p.Thr47Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia 7
-
RPL11 p.Arg16His
Uncertain significance
No assertion criteria
RPL11-related disorder
All RPL11 variants
Pathogenic 32
- c.6+2T>C Multiple submitters Diamond-Blackfan anemia
- p.Arg75Ter Multiple submitters Diamond-Blackfan anemia 7
- p.Asp31_Arg32insTer Multiple submitters RPL11-related disorder
- p.Cys21fs Multiple submitters RPL11-related disorder
- p.Pro48fs Multiple submitters Diamond-Blackfan anemia 7
- c.158-1G>A Single submitter Diamond-Blackfan anemia
- c.158-1G>C Single submitter Diamond-Blackfan anemia
- c.158-2A>C Single submitter Diamond-Blackfan anemia
- c.391_392insSVAelement Single submitter
- c.508-2A>G Single submitter Diamond-Blackfan anemia
- p.Ala36fs Single submitter Diamond-Blackfan anemia
- p.Arg32fs Single submitter Diamond-Blackfan anemia
- p.Arg35fs Single submitter Diamond-Blackfan anemia
- p.Arg54fs Single submitter Diamond-Blackfan anemia
- p.Asn104fs Single submitter Diamond-Blackfan anemia
- p.Asn97fs Single submitter Diamond-Blackfan anemia
- p.Asp101fs Single submitter Diamond-Blackfan anemia
- p.Gln110Ter Single submitter Diamond-Blackfan anemia
- p.Gln167_Gln168delinsHisTer Single submitter Diamond-Blackfan anemia
- p.Gln42Ter Single submitter Diamond-Blackfan anemia 7
- p.Gln46Ter Single submitter Diamond-Blackfan anemia
- p.Glu41Ter Single submitter Diamond-Blackfan anemia
- p.Leu15fs Single submitter Diamond-Blackfan anemia 7
- p.Leu40fs Single submitter
- p.Lys38fs Single submitter Diamond-Blackfan anemia
- p.Met12fs Single submitter Diamond-Blackfan anemia
- p.Ser100fs Single submitter Diamond-Blackfan anemia
- p.Ser51fs Single submitter Diamond-Blackfan anemia
- p.Thr34fs Single submitter Diamond-Blackfan anemia
- p.Tyr55Ter Single submitter
- p.Ile68fs No assertion criteria Diamond-Blackfan anemia 7
- p.Lys159fs No assertion criteria Diamond-Blackfan anemia 7
Pathogenic/Likely pathogenic 2
- p.His155fs Multiple submitters Diamond-Blackfan anemia
- p.Lys8fs Multiple submitters Diamond-Blackfan anemia
Likely pathogenic 11
- c.397-2A>G Multiple submitters Diamond-Blackfan anemia
- c.508-1G>C Multiple submitters Diamond-Blackfan anemia
- c.136_157+26del Single submitter Diamond-Blackfan anemia
- c.264+1G>A Single submitter Diamond-Blackfan anemia
- c.265-2A>C Single submitter Diamond-Blackfan anemia
- c.265-2A>G Single submitter Diamond-Blackfan anemia
- c.396+1G>T Single submitter Diamond-Blackfan anemia
- c.508-1G>A Single submitter Diamond-Blackfan anemia
- p.Glu93Ter Single submitter
- p.Lys144fs Single submitter RPL11-related disorder
- p.Val49fs No assertion criteria anemia
Conflicting classifications of pathogenicity 13
- c.158-10C>A Single submitter Diamond-Blackfan anemia 7
- c.158-7C>G Single submitter Diamond-Blackfan anemia
- c.158-7C>T Single submitter Diamond-Blackfan anemia
- c.264+18A>G Single submitter Diamond-Blackfan anemia 7
- c.264+9A>T Single submitter Diamond-Blackfan anemia
- c.396+9A>G Single submitter Diamond-Blackfan anemia 7
- c.508-9_508-5del Single submitter Diamond-Blackfan anemia
- c.7-10C>T Single submitter Diamond-Blackfan anemia
- c.7-6T>G Single submitter Diamond-Blackfan anemia
- p.Glu81del Single submitter Diamond-Blackfan anemia 7
- p.Lys145del Single submitter Diamond-Blackfan anemia 7
- p.Phe99del Single submitter Diamond-Blackfan anemia
- p.Thr102= Single submitter Diamond-Blackfan anemia 7
Benign 12
- c.264+67A>G Multiple submitters
- c.507+39A>G Multiple submitters
- c.6+50G>T Multiple submitters
- c.7-100T>C Multiple submitters
- c.7-134T>G Multiple submitters
- c.7-146T>C Multiple submitters
- c.*148C>T Multiple submitters
- c.*52A>G Multiple submitters Diamond-Blackfan anemia 7
- c.265-9dup Single submitter Diamond-Blackfan anemia
- c.396+127_396+129del Single submitter
- c.396+20del Single submitter Diamond-Blackfan anemia
- p.Ile17= Single submitter Diamond-Blackfan anemia
Benign/Likely benign 6
- c.158-18G>C Multiple submitters Diamond-Blackfan anemia
- c.7-20G>T Multiple submitters Diamond-Blackfan anemia
- p.Asn10= Multiple submitters Diamond-Blackfan anemia
- p.His71= Multiple submitters Diamond-Blackfan anemia
- p.Ile113= Multiple submitters Diamond-Blackfan anemia
- p.Ser51= Multiple submitters Diamond-Blackfan anemia
Likely benign 63
- c.397-4A>G Multiple submitters Diamond-Blackfan anemia
- c.6+8G>C Multiple submitters Diamond-Blackfan anemia
- p.Arg95= Multiple submitters Diamond-Blackfan anemia
- p.Cys25= Multiple submitters Diamond-Blackfan anemia
- p.Gln168= Multiple submitters Diamond-Blackfan anemia
- p.Gly86= Multiple submitters Diamond-Blackfan anemia 7
- p.Pro11= Multiple submitters Diamond-Blackfan anemia
- p.Ser100= Multiple submitters Diamond-Blackfan anemia
- p.Thr34= Multiple submitters Diamond-Blackfan anemia
- p.Tyr126= Multiple submitters Diamond-Blackfan anemia
- p.Val57= Multiple submitters Diamond-Blackfan anemia
- c.157+12C>A Single submitter Diamond-Blackfan anemia
- c.157+7dup Single submitter Diamond-Blackfan anemia
- c.157+9T>G Single submitter Diamond-Blackfan anemia
- c.158-8del Single submitter Diamond-Blackfan anemia
- c.264+11_264+12insA Single submitter Diamond-Blackfan anemia
- c.264+12C>G Single submitter Diamond-Blackfan anemia
- c.264+13C>T Single submitter Diamond-Blackfan anemia
- c.264+15C>A Single submitter Diamond-Blackfan anemia
- c.264+16del Single submitter Diamond-Blackfan anemia
- c.264+16T>C Single submitter Diamond-Blackfan anemia
- c.265-6C>T Single submitter Diamond-Blackfan anemia
- c.397-14del Single submitter Diamond-Blackfan anemia
- c.397-16G>A Single submitter Diamond-Blackfan anemia
- c.507+16C>T Single submitter Diamond-Blackfan anemia
- c.507+8T>C Single submitter Diamond-Blackfan anemia
- c.508-12C>G Single submitter Diamond-Blackfan anemia
- c.508-14C>T Single submitter Diamond-Blackfan anemia
- c.508-20_508-17del Single submitter Diamond-Blackfan anemia
- c.508-7C>T Single submitter Diamond-Blackfan anemia
- c.6+11G>C Single submitter Diamond-Blackfan anemia
- c.6+12G>C Single submitter Diamond-Blackfan anemia
- c.6+16C>T Single submitter Diamond-Blackfan anemia
- c.6+20A>T Single submitter Diamond-Blackfan anemia
- c.7-19C>T Single submitter Diamond-Blackfan anemia
- c.7-7G>C Single submitter Diamond-Blackfan anemia
- c.7-9C>T Single submitter Diamond-Blackfan anemia
- p.Ala142= Single submitter Diamond-Blackfan anemia
- p.Arg146= Single submitter Diamond-Blackfan anemia
- p.Arg32= Single submitter Diamond-Blackfan anemia
- p.Arg58= Single submitter Diamond-Blackfan anemia
- p.Arg63= Single submitter Diamond-Blackfan anemia
- p.Arg75= Single submitter Diamond-Blackfan anemia
- p.Asp120= Single submitter Diamond-Blackfan anemia
- p.Glu41= Single submitter Diamond-Blackfan anemia
- p.Ile125= Single submitter Diamond-Blackfan anemia
- p.Ile24= Single submitter Diamond-Blackfan anemia
- p.Leu115= Single submitter Diamond-Blackfan anemia
- p.Leu128= Single submitter Diamond-Blackfan anemia
- p.Leu20= Single submitter Diamond-Blackfan anemia
- p.Leu40= Single submitter Diamond-Blackfan anemia
- p.Lys154= Single submitter Diamond-Blackfan anemia
- p.Lys8= Single submitter Diamond-Blackfan anemia
- p.Phe166= Single submitter Diamond-Blackfan anemia
- p.Phe60= Single submitter Diamond-Blackfan anemia
- p.Ser29= Single submitter Diamond-Blackfan anemia
- p.Thr56= Single submitter Diamond-Blackfan anemia
- p.Thr73= Single submitter Diamond-Blackfan anemia
- p.Tyr131= Single submitter Diamond-Blackfan anemia
- p.Val39= Single submitter Diamond-Blackfan anemia
- p.Val74= Single submitter Diamond-Blackfan anemia
- c.*3T>A No assertion criteria RPL11-related disorder
- p.Ile109= No assertion criteria RPL11-related disorder
Uncertain significance 64
- c.264+3G>A Multiple submitters Diamond-Blackfan anemia
- c.396+3A>G Multiple submitters Diamond-Blackfan anemia 7
- c.508-17A>G Multiple submitters Diamond-Blackfan anemia
- c.508-3C>G Multiple submitters Diamond-Blackfan anemia
- p.Arg146His Multiple submitters Diamond-Blackfan anemia ⚠
- p.Arg90= Multiple submitters Diamond-Blackfan anemia 7
- p.Asn23Ser Multiple submitters Diamond-Blackfan anemia ⚠
- p.Gln5Arg Multiple submitters Diamond-Blackfan anemia ⚠
- p.Glu160Gln Multiple submitters Diamond-Blackfan anemia ⚠
- p.Ile109Val Multiple submitters Diamond-Blackfan anemia 7
- p.Ile151Thr Multiple submitters Diamond-Blackfan anemia ⚠
- p.Lys96Arg Multiple submitters Diamond-Blackfan anemia ⚠
- p.Thr73Ala Multiple submitters Diamond-Blackfan anemia ⚠
- c.264+3G>C Single submitter Diamond-Blackfan anemia
- c.264+4A>T Single submitter Diamond-Blackfan anemia
- c.397-11_397-10delinsAT Single submitter Diamond-Blackfan anemia
- c.397-12T>C Single submitter Diamond-Blackfan anemia 7
- c.397-17G>A Single submitter Diamond-Blackfan anemia 7
- c.463_508-69del Single submitter Diamond-Blackfan anemia
- c.508-3C>A Single submitter
- c.7-1G>T Single submitter Diamond-Blackfan anemia
- c.7-2A>T Single submitter
- c.*6C>T Single submitter
- p.Ala2Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Ala79Val Single submitter Diamond-Blackfan anemia ⚠
- p.Arg136Lys Single submitter ⚠
- p.Arg13Gln Single submitter Diamond-Blackfan anemia
- p.Arg146Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Arg146Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Arg156Gly Single submitter Diamond-Blackfan anemia ⚠
- p.Arg164Cys Single submitter Diamond-Blackfan anemia ⚠
- p.Arg18_Lys19del Single submitter Diamond-Blackfan anemia
- p.Arg18His Single submitter Diamond-Blackfan anemia
- p.Arg75Gln Single submitter Inborn genetic diseases ⚠
- p.Arg90Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Asn10Tyr Single submitter Diamond-Blackfan anemia 7 ⚠
- p.Asp101Ala Single submitter ⚠
- p.Asp101Gly Single submitter Diamond-Blackfan anemia 7 ⚠
- p.Cys72Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Gln3= Single submitter Diamond-Blackfan anemia
- p.Gln3Glu Single submitter Diamond-Blackfan anemia ⚠
- p.Gln3His Single submitter Diamond-Blackfan anemia 7 ⚠
- p.Glu161del Single submitter Diamond-Blackfan anemia
- p.Glu28Asp Single submitter Diamond-Blackfan anemia 7 ⚠
- p.Gly135Ser Single submitter Diamond-Blackfan anemia
- p.Gly149fs Single submitter
- p.Gly152Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Ile17_Arg18insIle Single submitter Diamond-Blackfan anemia
- p.Ile173Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Ile68Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Leu134Met Single submitter Diamond-Blackfan anemia
- p.Leu15Phe Single submitter ⚠
- p.Lys144Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Lys169Glu Single submitter Diamond-Blackfan anemia ⚠
- p.Lys19Arg Single submitter Diamond-Blackfan anemia 7 ⚠
- p.Lys8Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Phe130Tyr Single submitter Diamond-Blackfan anemia 7 ⚠
- p.Phe99Asn Single submitter
- p.Phe99Leu Single submitter ⚠
- p.Pro48Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Ser100Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Thr47Ala Single submitter Diamond-Blackfan anemia 7 ⚠
- p.Val133Met Single submitter ⚠
- p.Arg16His No assertion criteria RPL11-related disorder ⚠