RPS24 — 194 ClinVar variants
All ClinVar germline RPS24 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
9 Pathogenic · 5 Likely pathogenic · 6 Conflicting · 8 Benign · 9 Benign/Likely benign · 81 Likely benign · 76 Uncertain significance
Full RPS24 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RPS24 p.Arg41Gln
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS24 p.Arg8His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 3
-
RPS24 p.Gly31Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS24 p.Ile7Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS24 p.Met74Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 3
-
RPS24 p.Ala92Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Arg16Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Arg16Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Arg16Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Arg41Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPS24 p.Arg90Thr Uncertain significance Single submitter
-
RPS24 p.Arg93Lys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Asp53Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Leu91Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Lys129Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPS24 p.Lys88Glu Uncertain significance Single submitter
-
RPS24 p.Lys99Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Met13Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Met47Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPS24 p.Phe58Leu Uncertain significance Single submitter
- RPS24 p.Phe60Ile Uncertain significance Single submitter
-
RPS24 p.Pro52Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Pro52Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 3
-
RPS24 p.Pro87Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 3
- RPS24 p.Thr34Ala Uncertain significance Single submitter
-
RPS24 p.Val117Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia 3
Predictors split 14
The independent predictors disagree with each other — read with care.
-
RPS24 c.*21C>T
Benign/Likely benign
Multiple submitters
Diamond-Blackfan anemia 3
-
RPS24 p.Asn124Ser
Benign/Likely benign
Multiple submitters
Diamond-Blackfan anemia
-
RPS24 p.Leu28Phe
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS24 p.Leu28Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS24 p.Lys83Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 3
-
RPS24 p.Ala33Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Arg107Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Asp3Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Asp80Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.His94Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Thr120Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS24 p.Thr4Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia 3
-
RPS24 p.Thr50Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 3
-
RPS24 p.Val54Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia
All RPS24 variants
Pathogenic 9
- p.Arg16Ter Multiple submitters Diamond-Blackfan anemia
- p.Arg107Ter Single submitter Bleeding and platelet disorders
- p.Gln22fs Single submitter Diamond-Blackfan anemia
- p.Glu98Ter Single submitter Diamond-Blackfan anemia
- p.Gly65fs Single submitter Diamond-Blackfan anemia
- p.Thr50Pro Single submitter Diamond-Blackfan anemia 3
- p.Val5fs Single submitter Diamond-Blackfan anemia
- p.Asn2delinsTyrGlyTer No assertion criteria Diamond-Blackfan anemia 3
- p.Gln106Ter No assertion criteria Diamond-Blackfan anemia 3
Likely pathogenic 5
- c.279+5G>T Single submitter Diamond-Blackfan anemia
- c.69+1G>T Single submitter Abnormality of blood and blood-forming tissues
- p.Ala92fs Single submitter Diamond-Blackfan anemia 3
- p.Asp53fs Single submitter Diamond-Blackfan anemia 3
- p.Gln22Ter Single submitter
Conflicting classifications of pathogenicity 6
- p.His63= Single submitter Diamond-Blackfan anemia
- p.Ile271Leu Single submitter Diamond-Blackfan anemia 3
- p.Ile7= Single submitter Diamond-Blackfan anemia 3
- p.Lys116= Single submitter Diamond-Blackfan anemia
- p.Pro267Ala Single submitter Diamond-Blackfan anemia 3
- p.Val176Met Single submitter Diamond-Blackfan anemia 3
Benign 8
- c.279+102T>G Multiple submitters
- c.*99T>C Multiple submitters Diamond-Blackfan anemia 3
- c.280-149C>T Single submitter
- c.280-226G>C Single submitter
- c.280-271A>T Single submitter
- c.390+622G>T Single submitter
- c.390+628C>T Single submitter
- c.390+629CT[2] Single submitter
Benign/Likely benign 9
- c.391-3C>A Multiple submitters Diamond-Blackfan anemia 3
- c.*21C>T Multiple submitters Diamond-Blackfan anemia 3 ⚠
- p.Ala121= Multiple submitters Diamond-Blackfan anemia 3
- p.Asn124Ser Multiple submitters Diamond-Blackfan anemia ⚠
- p.Gly126= Multiple submitters Diamond-Blackfan anemia 3
- p.Gly59= Multiple submitters Diamond-Blackfan anemia 3
- p.Leu79= Multiple submitters Diamond-Blackfan anemia 3
- p.Phe56= Multiple submitters Diamond-Blackfan anemia 3
- p.Thr102= Multiple submitters Diamond-Blackfan anemia 3
Likely benign 81
- c.279+20_279+27del Multiple submitters Diamond-Blackfan anemia
- c.280-52G>A Multiple submitters
- c.280-6A>C Multiple submitters Diamond-Blackfan anemia
- c.391-243C>T Multiple submitters
- c.*11G>A Multiple submitters Diamond-Blackfan anemia 3
- c.*19+60T>C Multiple submitters
- p.Arg162Trp Multiple submitters Diamond-Blackfan anemia 3
- p.Asn2= Multiple submitters Diamond-Blackfan anemia
- p.Gly238= Multiple submitters
- p.Lys111= Multiple submitters Diamond-Blackfan anemia 3
- p.Pro30= Multiple submitters Diamond-Blackfan anemia
- c.279+14_279+18del Single submitter Diamond-Blackfan anemia
- c.279+17T>A Single submitter Diamond-Blackfan anemia
- c.279+18T>A Single submitter Diamond-Blackfan anemia
- c.280-11_280-10del Single submitter Diamond-Blackfan anemia
- c.280-14C>G Single submitter Diamond-Blackfan anemia
- c.280-17A>C Single submitter Diamond-Blackfan anemia
- c.280-19G>T Single submitter Diamond-Blackfan anemia
- c.280-276C>T Single submitter
- c.280-4T>G Single submitter Diamond-Blackfan anemia
- c.280-6A>G Single submitter Diamond-Blackfan anemia
- c.390+117TCT[2] Single submitter
- c.390+13A>C Single submitter Diamond-Blackfan anemia
- c.390+14A>G Single submitter Diamond-Blackfan anemia
- c.390+436T>G Single submitter
- c.390+465C>T Single submitter
- c.390+7T>A Single submitter Diamond-Blackfan anemia
- c.390+967G>A Single submitter
- c.390+9C>T Single submitter Diamond-Blackfan anemia
- c.391-11C>T Single submitter Diamond-Blackfan anemia
- c.391-14C>T Single submitter Diamond-Blackfan anemia
- c.391-271G>A Single submitter
- c.391-4dup Single submitter Diamond-Blackfan anemia
- c.391-6A>G Single submitter Diamond-Blackfan anemia
- c.4-10_4-9del Single submitter Diamond-Blackfan anemia
- c.4-11T>C Single submitter Diamond-Blackfan anemia
- c.4-16G>C Single submitter Diamond-Blackfan anemia
- c.4-20C>G Single submitter Diamond-Blackfan anemia
- c.4-289G>A Single submitter
- c.4-8G>A Single submitter Diamond-Blackfan anemia
- c.69+10G>A Single submitter Diamond-Blackfan anemia
- c.69+11G>A Single submitter Diamond-Blackfan anemia
- c.69+17C>T Single submitter Diamond-Blackfan anemia
- c.70-10C>T Single submitter Diamond-Blackfan anemia
- c.70-14A>G Single submitter Diamond-Blackfan anemia
- c.70-15G>T Single submitter Diamond-Blackfan anemia
- c.*100C>T Single submitter
- c.*205C>T Single submitter
- c.*22G>A Single submitter
- p.Ala158Ser Single submitter
- p.Ala208Val Single submitter
- p.Ala33= Single submitter Diamond-Blackfan anemia
- p.Ala82= Single submitter Diamond-Blackfan anemia
- p.Ala92= Single submitter Diamond-Blackfan anemia
- p.Arg20= Single submitter Diamond-Blackfan anemia
- p.Arg93= Single submitter Diamond-Blackfan anemia
- p.Asn124= Single submitter Diamond-Blackfan anemia
- p.Asn218= Single submitter
- p.Asn85= Single submitter Diamond-Blackfan anemia
- p.Gln106= Single submitter Diamond-Blackfan anemia
- p.Gly128= Single submitter Diamond-Blackfan anemia
- p.Ile55= Single submitter Diamond-Blackfan anemia
- p.Leu287= Single submitter
- p.Lys108= Single submitter Diamond-Blackfan anemia
- p.Lys122= Single submitter Diamond-Blackfan anemia
- p.Lys88= Single submitter Diamond-Blackfan anemia
- p.Lys99= Single submitter Diamond-Blackfan anemia
- p.Pro173= Single submitter
- p.Pro256Leu Single submitter
- p.Pro52= Single submitter Diamond-Blackfan anemia
- p.Ser223= Single submitter
- p.Ser223Leu Single submitter
- p.Ser285Pro Single submitter
- p.Ser78= Single submitter Diamond-Blackfan anemia
- p.Thr4= Single submitter Diamond-Blackfan anemia
- p.Val27= Single submitter Diamond-Blackfan anemia
- p.Val57= Single submitter Diamond-Blackfan anemia
- c.279+4G>C No assertion criteria RPS24-related disorder
- p.Ala208= No assertion criteria RPS24-related disorder
- p.Ser156= No assertion criteria RPS24-related disorder
- p.Ser276Arg No assertion criteria Diamond-Blackfan anemia 3
Uncertain significance 76
- c.390+3dup Multiple submitters Diamond-Blackfan anemia 3
- c.390+4T>C Multiple submitters Diamond-Blackfan anemia 3
- c.4-3C>T Multiple submitters Diamond-Blackfan anemia 3
- p.Ala220Val Multiple submitters Diamond-Blackfan anemia 3
- p.Arg41Gln Multiple submitters Diamond-Blackfan anemia ⚠
- p.Arg8His Multiple submitters Diamond-Blackfan anemia 3 ⚠
- p.Gly31Arg Multiple submitters Diamond-Blackfan anemia ⚠
- p.Ile7Ser Multiple submitters Diamond-Blackfan anemia ⚠
- p.Leu28Phe Multiple submitters Diamond-Blackfan anemia ⚠
- p.Leu28Val Multiple submitters Diamond-Blackfan anemia ⚠
- p.Lys83Arg Multiple submitters Diamond-Blackfan anemia 3 ⚠
- p.Met74Val Multiple submitters Diamond-Blackfan anemia 3 ⚠
- c.279+2dup Single submitter Diamond-Blackfan anemia
- c.390+2TA[3] Single submitter Diamond-Blackfan anemia
- c.391-3C>G Single submitter Diamond-Blackfan anemia
- c.4-3C>G Single submitter Diamond-Blackfan anemia
- c.4-6T>A Single submitter Diamond-Blackfan anemia
- c.4-7T>C Single submitter Diamond-Blackfan anemia 3
- p.Ala220= Single submitter
- p.Ala33Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Ala92Glu Single submitter Diamond-Blackfan anemia ⚠
- p.Arg107Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Arg118del Single submitter Diamond-Blackfan anemia
- p.Arg143Lys Single submitter RPS24-related disorder
- p.Arg16Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Arg16Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Arg16Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Arg41Trp Single submitter Diamond-Blackfan anemia ⚠
- p.Arg90Thr Single submitter ⚠
- p.Arg93Lys Single submitter Diamond-Blackfan anemia ⚠
- p.Asp3Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Asp53Val Single submitter Diamond-Blackfan anemia ⚠
- p.Asp80Glu Single submitter Diamond-Blackfan anemia ⚠
- p.Cys209Ser Single submitter
- p.Glu147Lys Single submitter Diamond-Blackfan anemia 3
- p.Glu212Lys Single submitter
- p.Gly137Arg Single submitter Diamond-Blackfan anemia 3
- p.Gly219Arg Single submitter Diamond-Blackfan anemia 3
- p.Gly238Ser Single submitter Diamond-Blackfan anemia 3
- p.His234Cys Single submitter Diamond-Blackfan anemia 3
- p.His272Tyr Single submitter RPS24-related disorder
- p.His29_Val35delinsLeu Single submitter Diamond-Blackfan anemia
- p.His94Tyr Single submitter Diamond-Blackfan anemia ⚠
- p.Leu134Met Single submitter
- p.Leu141Ser Single submitter
- p.Leu17= Single submitter
- p.Leu210Pro Single submitter RPS24-related disorder
- p.Leu91Val Single submitter Diamond-Blackfan anemia ⚠
- p.Lys129Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Lys88Glu Single submitter ⚠
- p.Lys99Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Met13Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Met222Ile Single submitter
- p.Met47Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Phe58Leu Single submitter ⚠
- p.Phe60Ile Single submitter ⚠
- p.Pro173_Trp174insTer Single submitter Diamond-Blackfan anemia 3
- p.Pro233Leu Single submitter Diamond-Blackfan anemia 3
- p.Pro235Leu Single submitter
- p.Pro245Leu Single submitter RPS24-related disorder
- p.Pro280Ala Single submitter
- p.Pro52Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Pro52Leu Single submitter Diamond-Blackfan anemia 3 ⚠
- p.Pro87Leu Single submitter Diamond-Blackfan anemia 3 ⚠
- p.Ser279Ala Single submitter RPS24-related disorder
- p.Thr120Ile Single submitter Diamond-Blackfan anemia ⚠
- p.Thr34Ala Single submitter ⚠
- p.Thr4Asn Single submitter Diamond-Blackfan anemia
- p.Thr4Ile Single submitter Diamond-Blackfan anemia 3 ⚠
- p.Thr50Ser Single submitter Diamond-Blackfan anemia 3 ⚠
- p.Val117Ala Single submitter Diamond-Blackfan anemia 3 ⚠
- p.Val54Ile Single submitter Diamond-Blackfan anemia ⚠
- c.391-2A>T No assertion criteria
- p.Glu274Ter No assertion criteria
- p.Phe268Ser No assertion criteria RPS24-related disorder
- p.Val170_Gly172del No assertion criteria