RPL18 — 139 ClinVar variants
All ClinVar germline RPL18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Likely pathogenic · 2 Conflicting · 13 Benign · 5 Benign/Likely benign · 66 Likely benign · 52 Uncertain significance
Full RPL18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RPL18 p.Gly133Arg
Conflicting
Single submitter
Diamond-Blackfan anemia 18
Predictors lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPL18 p.Arg108Gln Uncertain significance Multiple submitters
- RPL18 p.Arg110His Uncertain significance Multiple submitters
- RPL18 p.Leu61Val Uncertain significance Multiple submitters
- RPL18 p.Pro159Leu Uncertain significance Multiple submitters
- RPL18 p.Ala116Ser Uncertain significance Single submitter
- RPL18 p.Arg110Cys Uncertain significance Single submitter
- RPL18 p.Arg112Cys Uncertain significance Single submitter
- RPL18 p.Arg146Gln Uncertain significance Single submitter
- RPL18 p.Arg150Trp Uncertain significance Single submitter
- RPL18 p.Arg15His Uncertain significance Single submitter
- RPL18 p.Arg168Cys Uncertain significance Single submitter
- RPL18 p.Arg172Trp Uncertain significance Single submitter
- RPL18 p.Arg176Cys Uncertain significance Single submitter
-
RPL18 p.Arg176His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 18
- RPL18 p.Arg181Trp Uncertain significance Single submitter
- RPL18 p.Arg68Trp Uncertain significance Single submitter
- RPL18 p.Asn40Ser Uncertain significance Single submitter
- RPL18 p.Asn77Lys Uncertain significance Single submitter
- RPL18 p.Asp10Gly Uncertain significance Single submitter
- RPL18 p.Gly145Asp Uncertain significance Single submitter
- RPL18 p.Gly153Ser Uncertain significance Single submitter
- RPL18 p.Leu114Arg Uncertain significance Single submitter
- RPL18 p.Leu63Phe Uncertain significance Single submitter
- RPL18 p.Leu72Arg Uncertain significance Single submitter
- RPL18 p.Pro165Ser Uncertain significance Single submitter
- RPL18 p.Ser107Thr Uncertain significance Single submitter
- RPL18 p.Ser161Cys Uncertain significance Single submitter
- RPL18 p.Thr158Ala Uncertain significance Single submitter
- RPL18 p.Val167Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- RPL18 p.Arg6Cys Uncertain significance Multiple submitters
- RPL18 p.Arg6His Uncertain significance Multiple submitters
- RPL18 p.Asp10Glu Likely benign Multiple submitters
- RPL18 p.Thr79Met Uncertain significance Multiple submitters
- RPL18 p.Arg104His Uncertain significance Single submitter
- RPL18 p.Arg150Gln Uncertain significance Single submitter
- RPL18 p.Arg180Gln Uncertain significance Single submitter
- RPL18 p.Glu76Gly Uncertain significance Single submitter
- RPL18 p.His151Tyr Uncertain significance Single submitter
- RPL18 p.Lys170Arg Uncertain significance Single submitter
- RPL18 p.Phe123Leu Uncertain significance Single submitter
- RPL18 p.Ser140Ala Uncertain significance Single submitter
- RPL18 p.Thr56Ala Uncertain significance Single submitter
- RPL18 p.Val3Ala Uncertain significance Single submitter
All RPL18 variants
Likely pathogenic 1
- p.Leu51Ser Single submitter Diamond-Blackfan anemia 18
Conflicting classifications of pathogenicity 2
- p.Ala80Val Single submitter
- p.Gly133Arg Single submitter Diamond-Blackfan anemia 18 ⚠
Benign 13
- c.198+139G>A Multiple submitters
- c.4-173C>T Multiple submitters
- c.91-94A>C Multiple submitters
- c.199-182dup Single submitter
- c.199-6C>T Single submitter
- c.297+48TGCTG[10] Single submitter
- c.297+48TGCTG[11] Single submitter
- c.297+48TGCTG[8] Single submitter
- c.297+48TGCTG[9] Single submitter
- c.4-5del Single submitter
- c.91-18G>A Single submitter
- p.Cys134= Single submitter
- p.Leu61= Single submitter
Benign/Likely benign 5
- c.297+11G>A Multiple submitters
- c.421+17C>T Multiple submitters
- c.492-15del Multiple submitters
- c.492-16C>T Multiple submitters
- p.Gly2= Multiple submitters
Likely benign 66
- c.421+18G>A Multiple submitters
- c.91-4C>T Multiple submitters
- p.Ala102= Multiple submitters
- p.Arg104= Multiple submitters
- p.Arg14= Multiple submitters
- p.Arg75= Multiple submitters
- p.Asp10Glu Multiple submitters ⚠
- p.Ser62= Multiple submitters
- c.198+19G>T Single submitter
- c.199-12C>T Single submitter
- c.199-14C>T Single submitter
- c.199-19A>G Single submitter
- c.297+10C>T Single submitter
- c.297+15G>A Single submitter
- c.297+18G>C Single submitter
- c.297+19G>A Single submitter
- c.298-12C>T Single submitter
- c.298-19G>A Single submitter
- c.298-9C>T Single submitter
- c.4-17C>T Single submitter
- c.421+11C>T Single submitter
- c.421+17C>G Single submitter
- c.421+9T>C Single submitter
- c.421+9T>G Single submitter
- c.422-12C>T Single submitter
- c.422-15C>T Single submitter
- c.422-5C>A Single submitter
- c.491+13C>T Single submitter
- c.492-10C>T Single submitter
- c.492-12C>G Single submitter
- c.492-13C>G Single submitter
- c.492-19C>A Single submitter
- c.492-8C>T Single submitter
- c.91-10G>A Single submitter
- c.91-10G>C Single submitter
- c.91-10G>T Single submitter
- c.91-11C>T Single submitter
- c.91-17T>G Single submitter
- c.91-4C>G Single submitter
- c.91-6C>G Single submitter
- c.91-7C>T Single submitter
- c.-4C>T Single submitter
- p.Ala80= Single submitter
- p.Arg172= Single submitter
- p.Arg181= Single submitter
- p.Arg68= Single submitter
- p.Asn188= Single submitter
- p.Asn44= Single submitter
- p.Asn57= Single submitter
- p.Asp88= Single submitter
- p.Glu17= Single submitter
- p.Gly117= Single submitter
- p.His160= Single submitter
- p.His162= Single submitter
- p.Leu126= Single submitter
- p.Leu28= Single submitter
- p.Leu48= Single submitter
- p.Phe152= Single submitter
- p.Phe174= Single submitter
- p.Pro142= Single submitter
- p.Pro156= Single submitter
- p.Pro59= Single submitter
- p.Tyr166= Single submitter
- p.Val81= Single submitter
- p.Val95= Single submitter
- c.4-7C>T No assertion criteria RPL18-related disorder
Uncertain significance 52
- p.Arg108Gln Multiple submitters ⚠
- p.Arg108Trp Multiple submitters
- p.Arg110His Multiple submitters ⚠
- p.Arg6Cys Multiple submitters ⚠
- p.Arg6His Multiple submitters ⚠
- p.Leu61Val Multiple submitters ⚠
- p.Pro159Leu Multiple submitters ⚠
- p.Thr79Met Multiple submitters ⚠
- c.4-3C>T Single submitter
- c.492-3C>T Single submitter
- p.Ala116Ser Single submitter ⚠
- p.Arg104Cys Single submitter
- p.Arg104His Single submitter ⚠
- p.Arg110Cys Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg150Gln Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg15His Single submitter ⚠
- p.Arg168Cys Single submitter ⚠
- p.Arg172Trp Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg176His Single submitter Diamond-Blackfan anemia 18 ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg184Ter Single submitter
- p.Arg68Trp Single submitter ⚠
- p.Asn40Ser Single submitter ⚠
- p.Asn77Lys Single submitter ⚠
- p.Asp10Gly Single submitter ⚠
- p.Glu76Gly Single submitter ⚠
- p.Gly145Asp Single submitter ⚠
- p.Gly153Ser Single submitter ⚠
- p.His151Tyr Single submitter ⚠
- p.His160Tyr Single submitter
- p.Leu114Arg Single submitter ⚠
- p.Leu63Phe Single submitter ⚠
- p.Leu72Arg Single submitter ⚠
- p.Lys170Arg Single submitter ⚠
- p.Phe123Leu Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Ser107Ile Single submitter
- p.Ser107Thr Single submitter ⚠
- p.Ser140= Single submitter
- p.Ser140Ala Single submitter ⚠
- p.Ser161Cys Single submitter ⚠
- p.Thr158Ala Single submitter ⚠
- p.Thr56Ala Single submitter ⚠
- p.Tyr32= Single submitter Diamond-Blackfan anemia 18
- p.Val167Ile Single submitter ⚠
- p.Val3Ala Single submitter ⚠
- p.Val90Ala Single submitter