RPS7 — 229 ClinVar variants
All ClinVar germline RPS7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
6 Pathogenic · 7 Likely pathogenic · 10 Conflicting · 21 Benign · 7 Benign/Likely benign · 83 Likely benign · 95 Uncertain significance
Full RPS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
RPS7 c.-19+1G>C
Conflicting
Single submitter
Diamond-Blackfan anemia 8
Predictors lean, ClinVar uncertain 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RPS7 p.Ala26Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Arg145His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Arg152Pro
Uncertain significance
Multiple submitters
RPS7-related disorder
-
RPS7 p.Asn12Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Leu180His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS7 p.Thr46Met
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Ala124Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ala48Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ala59Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ala96Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Arg145Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Arg152Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
- RPS7 p.Arg81His Uncertain significance Single submitter
-
RPS7 p.Asn12His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Asp17His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Glu131Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Glu42Lys
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Glu52Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Gly182Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.His91Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
- RPS7 p.Ile139Thr Uncertain significance Single submitter
-
RPS7 p.Ile60Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ile62Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Leu133Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS7 p.Leu28Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Leu30Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Leu40Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Leu40Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
- RPS7 p.Leu79Gln Uncertain significance Single submitter
-
RPS7 p.Lys37Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Phe173Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Phe173Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Pro104Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Pro104Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Pro136Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ser151Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ser174Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ser5Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ser88Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
- RPS7 p.Thr123Ser Uncertain significance Single submitter
-
RPS7 p.Thr181Met
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Val170Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Val53Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Val93Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
Predictors split 26
The independent predictors disagree with each other — read with care.
-
RPS7 p.Ala38Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Asn186Asp
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Ile45Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Val146Ile
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Val53Ile
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 8
-
RPS7 p.Ala38Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Arg106Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Arg109His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Arg57Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Gln39His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Leu27Ile
Conflicting
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Leu27Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Lys111Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Lys115Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Lys160Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Phe72Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Phe94Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Pro11Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ser119Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Ser174Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
- RPS7 p.Ser4Leu Uncertain significance Single submitter
-
RPS7 p.Ser4Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
- RPS7 p.Thr110Arg Uncertain significance Single submitter
-
RPS7 p.Val77Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Val80Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
-
RPS7 p.Val9Met
Uncertain significance
Single submitter
Diamond-Blackfan anemia 8
All RPS7 variants
Pathogenic 6
- c.75+1G>A Multiple submitters Diamond-Blackfan anemia 8
- c.65_75+2delinsCTGG Single submitter Diamond-Blackfan anemia
- c.-19+1G>T Single submitter Diamond-Blackfan anemia 8
- c.-19+2T>A Single submitter Diamond-Blackfan anemia 8
- c.147+1G>A No assertion criteria Diamond-Blackfan anemia 8
- c.76-1G>T No assertion criteria Diamond-Blackfan anemia 8
Likely pathogenic 7
- c.356+2T>C Single submitter RPS7-related disorder
- c.75+1G>T Single submitter Diamond-Blackfan anemia 8
- c.75+2T>G Single submitter Diamond-Blackfan anemia 8
- c.-19+1G>A Single submitter Diamond-Blackfan anemia 8
- p.Gly22fs Single submitter Diamond-Blackfan anemia 8
- p.Leu133Phe Single submitter Diamond-Blackfan anemia 8
- c.508-3T>G No assertion criteria Diamond-Blackfan anemia 8
Conflicting classifications of pathogenicity 10
- c.147+6C>T Single submitter Diamond-Blackfan anemia 8
- c.148-6C>T Single submitter Diamond-Blackfan anemia 8
- c.357-3dup Single submitter Diamond-Blackfan anemia
- c.-19+1G>C Single submitter Diamond-Blackfan anemia 8 ⚠
- c.-23G>A Single submitter Diamond-Blackfan anemia 8
- p.Gly13= Single submitter Diamond-Blackfan anemia 8
- p.Gly175= Single submitter Diamond-Blackfan anemia 8
- p.Gly22= Single submitter Diamond-Blackfan anemia
- p.Leu27Ile Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Val134= Single submitter Diamond-Blackfan anemia 8
Benign 21
- c.147+62A>G Multiple submitters
- c.147+63G>A Multiple submitters
- c.147+77G>C Multiple submitters
- c.148-138T>C Multiple submitters
- c.148-194C>T Multiple submitters
- c.148-26C>A Multiple submitters
- c.291+83G>A Multiple submitters
- c.292-121C>T Multiple submitters
- c.292-125T>C Multiple submitters
- c.292-153G>C Multiple submitters
- c.292-233T>C Multiple submitters
- c.292-262G>T Multiple submitters
- c.292-39C>T Multiple submitters
- c.356+65A>G Multiple submitters
- c.357-52G>C Multiple submitters
- c.508-197C>T Multiple submitters
- c.-47G>T Multiple submitters Diamond-Blackfan anemia 8
- c.148-7del Single submitter Diamond-Blackfan anemia 8
- c.357-16dup Single submitter Diamond-Blackfan anemia 8
- c.*31C>T Single submitter Diamond-Blackfan anemia 8
- p.Val92= Single submitter Diamond-Blackfan anemia 8
Benign/Likely benign 7
- c.508-12C>A Multiple submitters Diamond-Blackfan anemia 8
- c.508-16C>A Multiple submitters Diamond-Blackfan anemia 8
- c.-19+13C>T Multiple submitters Diamond-Blackfan anemia 8
- c.-36A>C Multiple submitters Diamond-Blackfan anemia 8
- p.Arg145= Multiple submitters Diamond-Blackfan anemia
- p.Asn33= Multiple submitters Diamond-Blackfan anemia
- p.Leu153= Multiple submitters Diamond-Blackfan anemia 8
Likely benign 83
- c.147+10C>T Multiple submitters Diamond-Blackfan anemia 8
- c.147+142T>A Multiple submitters
- c.291+19C>T Multiple submitters Diamond-Blackfan anemia 8
- c.292-21A>G Multiple submitters
- c.292-9A>T Multiple submitters Diamond-Blackfan anemia 8
- c.356+29G>A Multiple submitters
- c.356+89T>C Multiple submitters
- c.357-10A>G Multiple submitters Diamond-Blackfan anemia 8
- c.75+13C>T Multiple submitters Diamond-Blackfan anemia 8
- p.Arg78= Multiple submitters Diamond-Blackfan anemia
- p.His126= Multiple submitters Diamond-Blackfan anemia 8
- p.Ile23= Multiple submitters Diamond-Blackfan anemia
- p.Ile95= Multiple submitters Diamond-Blackfan anemia 8
- p.Ser137= Multiple submitters Diamond-Blackfan anemia 8
- p.Ser21= Multiple submitters Diamond-Blackfan anemia
- p.Ser34= Multiple submitters Diamond-Blackfan anemia
- p.Ser88= Multiple submitters Diamond-Blackfan anemia
- c.147+13T>C Single submitter Diamond-Blackfan anemia 8
- c.147+14C>A Single submitter Diamond-Blackfan anemia 8
- c.147+15C>T Single submitter Diamond-Blackfan anemia 8
- c.147+16C>T Single submitter Diamond-Blackfan anemia 8
- c.147+7T>C Single submitter Diamond-Blackfan anemia 8
- c.147+8G>A Single submitter Diamond-Blackfan anemia 8
- c.148-15T>C Single submitter Diamond-Blackfan anemia 8
- c.148-19T>A Single submitter Diamond-Blackfan anemia 8
- c.148-20A>C Single submitter Diamond-Blackfan anemia 8
- c.148-20A>G Single submitter Diamond-Blackfan anemia 8
- c.291+12A>C Single submitter Diamond-Blackfan anemia 8
- c.292-7C>G Single submitter Diamond-Blackfan anemia 8
- c.292-8C>A Single submitter Diamond-Blackfan anemia 8
- c.292-8C>T Single submitter Diamond-Blackfan anemia 8
- c.357-19T>C Single submitter Diamond-Blackfan anemia 8
- c.357-20C>A Single submitter Diamond-Blackfan anemia 8
- c.507+12A>G Single submitter Diamond-Blackfan anemia 8
- c.507+77C>T Single submitter
- c.508-10T>C Single submitter Diamond-Blackfan anemia 8
- c.508-12C>G Single submitter Diamond-Blackfan anemia 8
- c.75+12T>C Single submitter Diamond-Blackfan anemia 8
- c.75+14C>T Single submitter Diamond-Blackfan anemia 8
- c.75+20G>A Single submitter Diamond-Blackfan anemia 8
- c.75+8G>T Single submitter Diamond-Blackfan anemia 8
- c.76-12G>A Single submitter Diamond-Blackfan anemia 8
- c.76-12G>C Single submitter Diamond-Blackfan anemia 8
- c.76-13C>G Single submitter Diamond-Blackfan anemia 8
- c.76-13C>T Single submitter Diamond-Blackfan anemia 8
- c.76-16G>A Single submitter Diamond-Blackfan anemia 8
- c.76-18C>T Single submitter Diamond-Blackfan anemia 8
- c.76-8C>G Single submitter Diamond-Blackfan anemia 8
- c.76-8C>T Single submitter Diamond-Blackfan anemia 8
- c.-19+12G>A Single submitter
- c.-19+21C>A Single submitter
- p.Ala59= Single submitter Diamond-Blackfan anemia 8
- p.Asn112= Single submitter Diamond-Blackfan anemia 8
- p.Asp132= Single submitter Diamond-Blackfan anemia 8
- p.Asp149= Single submitter Diamond-Blackfan anemia 8
- p.Asp35= Single submitter Diamond-Blackfan anemia 8
- p.Gln162= Single submitter Diamond-Blackfan anemia 8
- p.Glu42= Single submitter Diamond-Blackfan anemia 8
- p.Gly150= Single submitter Diamond-Blackfan anemia
- p.His157= Single submitter Diamond-Blackfan anemia 8
- p.His91= Single submitter Diamond-Blackfan anemia 8
- p.Ile154= Single submitter Diamond-Blackfan anemia 8
- p.Ile8= Single submitter Diamond-Blackfan anemia 8
- p.Leu101= Single submitter Diamond-Blackfan anemia 8
- p.Leu122= Single submitter Diamond-Blackfan anemia 8
- p.Leu148= Single submitter Diamond-Blackfan anemia 8
- p.Leu27= Single submitter Diamond-Blackfan anemia 8
- p.Leu28= Single submitter Diamond-Blackfan anemia 8
- p.Leu40= Single submitter Diamond-Blackfan anemia 8
- p.Leu43= Single submitter Diamond-Blackfan anemia 8
- p.Lys85= Single submitter Diamond-Blackfan anemia 8
- p.Phe135= Single submitter Diamond-Blackfan anemia 8
- p.Phe173= Single submitter Diamond-Blackfan anemia 8
- p.Phe72= Single submitter Diamond-Blackfan anemia 8
- p.Phe87= Single submitter Diamond-Blackfan anemia 8
- p.Phe94= Single submitter Diamond-Blackfan anemia 8
- p.Pro65= Single submitter Diamond-Blackfan anemia 8
- p.Ser24= Single submitter Diamond-Blackfan anemia 8
- p.Ser71= Single submitter
- p.Thr181= Single submitter Diamond-Blackfan anemia 8
- p.Val176= Single submitter
- c.76-4T>C No assertion criteria RPS7-related disorder
- p.Leu158= No assertion criteria RPS7-related disorder
Uncertain significance 95
- c.291+2dup Multiple submitters Diamond-Blackfan anemia 8
- c.356+6T>C Multiple submitters Diamond-Blackfan anemia 8
- c.357-3del Multiple submitters Diamond-Blackfan anemia 8
- c.508-12_508-9del Multiple submitters Diamond-Blackfan anemia 8
- c.-27C>T Multiple submitters Diamond-Blackfan anemia 8
- p.Ala26Val Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Ala38Val Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Arg145His Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Arg152Pro Multiple submitters RPS7-related disorder ⚠
- p.Asn12Ser Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Asn186Asp Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Ile45Val Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Leu180His Multiple submitters Diamond-Blackfan anemia ⚠
- p.Thr46Met Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Val146Ile Multiple submitters Diamond-Blackfan anemia 8 ⚠
- p.Val53Ile Multiple submitters Diamond-Blackfan anemia 8 ⚠
- c.147+5G>C Single submitter Diamond-Blackfan anemia 8
- c.148-7_148-6delinsAA Single submitter Diamond-Blackfan anemia 8
- c.148-79G>A Single submitter
- c.356+3G>A Single submitter Diamond-Blackfan anemia 8
- c.507+3_507+9del Single submitter RPS7-related disorder
- c.508-9_508-5del Single submitter Diamond-Blackfan anemia 8
- c.76-3T>G Single submitter
- c.-13C>T Single submitter Diamond-Blackfan anemia 8
- c.-18-10G>A Single submitter Diamond-Blackfan anemia 8
- c.-18-1G>T Single submitter
- c.-19+1del Single submitter Diamond-Blackfan anemia 8
- c.-19G>C Single submitter Diamond-Blackfan anemia 8
- c.-2C>T Single submitter
- c.-3G>A Single submitter Diamond-Blackfan anemia 8
- c.-44C>T Single submitter Diamond-Blackfan anemia 8
- c.-86C>T Single submitter Diamond-Blackfan anemia 8
- p.Ala124Asp Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ala38Thr Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ala48Ser Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ala59Gly Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ala96Ser Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Arg106Gln Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Arg109His Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Arg145Cys Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Arg152Gln Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Arg57Trp Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Arg81His Single submitter ⚠
- p.Asn112Ile Single submitter Diamond-Blackfan anemia 8
- p.Asn12His Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Asp17His Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Gln39His Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Gln68= Single submitter Diamond-Blackfan anemia 8
- p.Glu131Val Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Glu42Lys Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Glu52Asp Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Gly182Asp Single submitter Diamond-Blackfan anemia 8 ⚠
- p.His91Leu Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ile139Thr Single submitter ⚠
- p.Ile139Val Single submitter Diamond-Blackfan anemia 8
- p.Ile60Val Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ile62Val Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Leu133Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Leu194= Single submitter Diamond-Blackfan anemia 8
- p.Leu27Phe Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Leu28Arg Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Leu30Val Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Leu40Phe Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Leu40Val Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Leu79Gln Single submitter ⚠
- p.Lys111Asn Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Lys115Arg Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Lys160Arg Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Lys37Gln Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Phe173Leu Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Phe173Ser Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Phe72Leu Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Phe94Leu Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Pro104Arg Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Pro104Leu Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Pro11Ser Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Pro136Ala Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ser119Asn Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ser151Ile Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ser174Ala Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ser174Cys Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ser4Leu Single submitter ⚠
- p.Ser4Trp Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ser5Asn Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Ser88Ile Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Thr110Arg Single submitter ⚠
- p.Thr123Ser Single submitter ⚠
- p.Thr181Met Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Val170Phe Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Val53Gly Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Val77Ala Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Val80Ile Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Val93del Single submitter Diamond-Blackfan anemia 8
- p.Val93Ile Single submitter Diamond-Blackfan anemia 8 ⚠
- p.Val9Met Single submitter Diamond-Blackfan anemia 8 ⚠