RPS26 — 186 ClinVar variants
All ClinVar germline RPS26 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
22 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 4 Conflicting · 10 Benign · 3 Benign/Likely benign · 75 Likely benign · 58 Uncertain significance
Full RPS26 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 29
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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RPS26 p.Ala104Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 10
-
RPS26 p.Arg89His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 10
-
RPS26 p.Arg89Pro
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 10
-
RPS26 p.Thr24Ala
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 10
-
RPS26 p.Ala106Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Ala27Ser
Uncertain significance
Single submitter
RPS26-related disorder
-
RPS26 p.Ala47Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Arg22Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Arg22His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Arg28Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
- RPS26 p.Arg28Pro Uncertain significance Single submitter
-
RPS26 p.Arg87Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Arg92Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Asp33Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Cys23Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS26 p.Cys26Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Ile21Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
- RPS26 p.Ile41Asn Uncertain significance Single submitter
-
RPS26 p.Lys32Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Lys32Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Lys3Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
- RPS26 p.Phe39Leu Uncertain significance Single submitter
-
RPS26 p.Pro111Ala
Uncertain significance
Single submitter
RPS26-related disorder
-
RPS26 p.Pro31Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Pro97Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Ser57Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Val40Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Val45Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Pro99Ser
Uncertain significance
No assertion criteria
RPS26-related disorder
Predictors split 6
The independent predictors disagree with each other — read with care.
-
RPS26 p.Pro111Leu
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 10
-
RPS26 p.Cys26Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Cys26Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Pro103Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Pro110Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
-
RPS26 p.Pro114Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 10
All RPS26 variants
Pathogenic 22
- p.Arg28Ter Multiple submitters Diamond-Blackfan anemia 10
- p.Arg87Ter Multiple submitters Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- p.Lys4fs Multiple submitters Diamond-Blackfan anemia 10
- p.Met1Thr Multiple submitters Diamond-Blackfan anemia
- p.Met1Val Multiple submitters RPS26-related disorder
- p.Val75fs Multiple submitters Diamond-Blackfan anemia 10
- c.182-1G>A Single submitter RPS26-related disorder
- c.3+1G>A Single submitter RPS26-related disorder
- c.4-1_6del Single submitter Diamond-Blackfan anemia 10
- c.4-2A>T Single submitter Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- p.Ala27fs Single submitter Diamond-Blackfan anemia 10
- p.Ala35fs Single submitter Diamond-Blackfan anemia 10
- p.Arg6fs Single submitter Diamond-Blackfan anemia 10
- p.Gly9fs Single submitter Diamond-Blackfan anemia
- p.Lys66Ter Single submitter Diamond-Blackfan anemia 10
- p.Met1Arg Single submitter Diamond-Blackfan anemia 10
- p.Met1Leu Single submitter
- p.Tyr73Ter Single submitter
- p.Val30fs Single submitter Diamond-Blackfan anemia
- c.181+1del No assertion criteria Diamond-Blackfan anemia 10
- p.Ala11fs No assertion criteria Diamond-Blackfan anemia 10
- p.Asp33Asn No assertion criteria Diamond-Blackfan anemia 10
Pathogenic/Likely pathogenic 3
- c.3+1G>T Multiple submitters Diamond-Blackfan anemia
- p.Asn25fs Multiple submitters Diamond-Blackfan anemia
- p.Gln19Ter Multiple submitters Diamond-Blackfan anemia 10
Likely pathogenic 11
- c.3+2T>G Multiple submitters Diamond-Blackfan anemia 10
- c.181+1G>A Single submitter Diamond-Blackfan anemia 10
- c.182-1G>C Single submitter Diamond-Blackfan anemia 10
- c.312+1G>C Single submitter Diamond-Blackfan anemia
- c.313-2A>G Single submitter Diamond-Blackfan anemia
- p.Cys74Tyr Single submitter Diamond-Blackfan anemia
- p.Cys77Tyr Single submitter RPS26-related disorder
- p.Gly16fs Single submitter RPS26-related disorder
- p.Leu67_Tyr68insTer Single submitter RPS26-related disorder
- p.Met1Lys Single submitter Diamond-Blackfan anemia 10
- c.312+2T>A No assertion criteria anemia
Conflicting classifications of pathogenicity 4
- c.181+6T>G Single submitter Diamond-Blackfan anemia 10
- c.4-4G>T Single submitter Diamond-Blackfan anemia
- p.Gly14= Single submitter Diamond-Blackfan anemia 10
- p.Met115Thr Single submitter Diamond-Blackfan anemia 10
Benign 10
- c.181+86T>G Multiple submitters
- c.312+27G>T Multiple submitters
- c.312+28C>T Multiple submitters
- c.4-98C>G Multiple submitters
- c.-22C>G Multiple submitters Diamond-Blackfan anemia 10
- c.-31C>G Multiple submitters Diamond-Blackfan anemia 10
- c.*216C>T Multiple submitters
- c.-209T>G Single submitter Diamond-Blackfan anemia 10
- c.-25C>T Single submitter Diamond-Blackfan anemia 10
- c.*210_*211dup Single submitter
Benign/Likely benign 3
Likely benign 75
- c.181+10T>G Multiple submitters Diamond-Blackfan anemia 10
- c.181+19C>G Multiple submitters Diamond-Blackfan anemia 10
- c.182-230G>A Multiple submitters
- c.182-29C>G Multiple submitters
- c.182-9A>G Multiple submitters Diamond-Blackfan anemia 10
- c.3+13G>C Multiple submitters Diamond-Blackfan anemia 10
- c.3+14C>T Multiple submitters Diamond-Blackfan anemia 10
- c.3+20G>C Multiple submitters Diamond-Blackfan anemia 10
- c.3+7C>G Multiple submitters Diamond-Blackfan anemia 10
- c.3+7C>T Multiple submitters Diamond-Blackfan anemia 10
- c.3+9T>A Multiple submitters Diamond-Blackfan anemia 10
- c.4-13C>T Multiple submitters Diamond-Blackfan anemia 10
- p.Ala48= Multiple submitters Diamond-Blackfan anemia 10
- p.Glu90= Multiple submitters Diamond-Blackfan anemia
- p.Gly105= Multiple submitters Diamond-Blackfan anemia
- p.Ile21= Multiple submitters Diamond-Blackfan anemia 10
- p.Leu71= Multiple submitters Diamond-Blackfan anemia 10
- p.Pro97= Multiple submitters Diamond-Blackfan anemia 10
- p.Thr96= Multiple submitters Diamond-Blackfan anemia 10
- p.Val69= Multiple submitters Diamond-Blackfan anemia 10
- c.181+10T>C Single submitter Diamond-Blackfan anemia 10
- c.181+15G>A Single submitter Diamond-Blackfan anemia 10
- c.181+18G>A Single submitter
- c.181+8G>C Single submitter Diamond-Blackfan anemia 10
- c.182-11C>T Single submitter Diamond-Blackfan anemia 10
- c.182-12T>A Single submitter Diamond-Blackfan anemia 10
- c.182-16_182-15del Single submitter Diamond-Blackfan anemia 10
- c.182-16A>G Single submitter Diamond-Blackfan anemia 10
- c.182-20C>T Single submitter Diamond-Blackfan anemia 10
- c.182-6C>T Single submitter Diamond-Blackfan anemia 10
- c.182-8T>C Single submitter Diamond-Blackfan anemia 10
- c.3+10C>T Single submitter Diamond-Blackfan anemia 10
- c.3+12T>C Single submitter Diamond-Blackfan anemia 10
- c.3+13G>T Single submitter Diamond-Blackfan anemia 10
- c.3+14C>A Single submitter Diamond-Blackfan anemia 10
- c.3+14C>G Single submitter Diamond-Blackfan anemia 10
- c.3+15G>T Single submitter Diamond-Blackfan anemia 10
- c.3+16T>C Single submitter Diamond-Blackfan anemia 10
- c.3+7C>A Single submitter Diamond-Blackfan anemia 10
- c.312+16G>A Single submitter Diamond-Blackfan anemia 10
- c.312+16G>C Single submitter Diamond-Blackfan anemia 10
- c.312+7A>G Single submitter Diamond-Blackfan anemia 10
- c.313-10dup Single submitter Diamond-Blackfan anemia 10
- c.313-17_313-14del Single submitter Diamond-Blackfan anemia 10
- c.313-20_313-18del Single submitter Diamond-Blackfan anemia 10
- c.313-7C>T Single submitter Diamond-Blackfan anemia 10
- c.4-10C>T Single submitter Diamond-Blackfan anemia 10
- c.4-15C>T Single submitter Diamond-Blackfan anemia 10
- c.4-48C>T Single submitter
- c.4-7G>C Single submitter Diamond-Blackfan anemia 10
- c.-27C>T Single submitter Diamond-Blackfan anemia 10
- c.-31C>T Single submitter Diamond-Blackfan anemia 10
- c.-33C>T Single submitter Diamond-Blackfan anemia 10
- c.-9G>T Single submitter Diamond-Blackfan anemia 10
- c.*12C>T Single submitter
- c.*211dup Single submitter
- p.Ala27= Single submitter Diamond-Blackfan anemia 10
- p.Ala56= Single submitter Diamond-Blackfan anemia 10
- p.Ala61= Single submitter Diamond-Blackfan anemia 10
- p.Arg109= Single submitter Diamond-Blackfan anemia 10
- p.Arg6= Single submitter
- p.Asn43= Single submitter Diamond-Blackfan anemia 10
- p.Asp33= Single submitter Diamond-Blackfan anemia
- p.Cys23= Single submitter Diamond-Blackfan anemia 10
- p.His17= Single submitter Diamond-Blackfan anemia 10
- p.Leu67= Single submitter Diamond-Blackfan anemia 10
- p.Lys32= Single submitter Diamond-Blackfan anemia 10
- p.Pro112= Single submitter Diamond-Blackfan anemia 10
- p.Pro20= Single submitter Diamond-Blackfan anemia 10
- p.Pro31= Single submitter Diamond-Blackfan anemia 10
- p.Ser57= Single submitter Diamond-Blackfan anemia 10
- p.Val40= Single submitter Diamond-Blackfan anemia 10
- p.Val63= Single submitter Diamond-Blackfan anemia 10
- c.4-34C>T No assertion criteria RPS26-related disorder
- c.-9G>A No assertion criteria RPS26-related disorder
Uncertain significance 58
- c.181+6_181+7del Multiple submitters Diamond-Blackfan anemia 10
- c.312+3G>A Multiple submitters Diamond-Blackfan anemia 10
- p.Ala104= Multiple submitters Diamond-Blackfan anemia 10
- p.Ala104Val Multiple submitters Diamond-Blackfan anemia 10 ⚠
- p.Arg89His Multiple submitters Diamond-Blackfan anemia 10 ⚠
- p.Arg89Pro Multiple submitters Diamond-Blackfan anemia 10 ⚠
- p.Pro111Leu Multiple submitters Diamond-Blackfan anemia 10 ⚠
- p.Thr24Ala Multiple submitters Diamond-Blackfan anemia 10 ⚠
- c.181+5G>C Single submitter Diamond-Blackfan anemia 10
- c.182-16_182-4del Single submitter Diamond-Blackfan anemia 10
- c.3+4A>C Single submitter Diamond-Blackfan anemia 10
- c.3+5G>C Single submitter Diamond-Blackfan anemia 10
- c.3+6T>C Single submitter Diamond-Blackfan anemia 10
- c.3+6T>G Single submitter Diamond-Blackfan anemia 10
- c.312+5_312+21del Single submitter Diamond-Blackfan anemia 10
- c.4-8_4-7delinsCT Single submitter Diamond-Blackfan anemia 10
- c.-130T>G Single submitter Diamond-Blackfan anemia 10
- c.-149G>T Single submitter Diamond-Blackfan anemia 10
- c.-18C>T Single submitter
- c.-1G>C Single submitter
- c.-80C>T Single submitter Diamond-Blackfan anemia 10
- c.*49T>C Single submitter Diamond-Blackfan anemia 10
- c.*4G>A Single submitter Diamond-Blackfan anemia 10
- p.Ala106Gly Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Ala27Ser Single submitter RPS26-related disorder ⚠
- p.Ala47Val Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Arg22Gly Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Arg22His Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Arg28Gly Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Arg28Pro Single submitter ⚠
- p.Arg87Gln Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Arg92Cys Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Arg95Ter Single submitter
- p.Asp33Val Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Cys23Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Cys26Ser Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Cys26Trp Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Cys26Tyr Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Ile21Leu Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Ile41Asn Single submitter ⚠
- p.Ile53Val Single submitter Diamond-Blackfan anemia 10
- p.Lys32Arg Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Lys32Thr Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Lys3Asn Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Phe39Leu Single submitter ⚠
- p.Pro103Ser Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Pro110Ser Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Pro111= Single submitter
- p.Pro111Ala Single submitter RPS26-related disorder ⚠
- p.Pro114Ser Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Pro31Arg Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Pro97Leu Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Pro99= Single submitter Diamond-Blackfan anemia 10
- p.Ser57Asn Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Val40Asp Single submitter Diamond-Blackfan anemia 10 ⚠
- p.Val45Gly Single submitter Diamond-Blackfan anemia 10 ⚠
- c.-101C>T No assertion criteria
- p.Pro99Ser No assertion criteria RPS26-related disorder ⚠