RPS19 — 292 ClinVar variants
All ClinVar germline RPS19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
49 Pathogenic · 7 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 15 Conflicting · 11 Benign · 7 Benign/Likely benign · 79 Likely benign · 96 Uncertain significance
Full RPS19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RPS19 p.Asp118Gly
Likely pathogenic
Multiple submitters
Diamond-Blackfan anemia 1
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RPS19 p.Arg101Cys
Conflicting
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.Val72Phe
Conflicting
Single submitter
Landsteiner-Wiener phenotype
Predicted LoF vs a conflicting call 2
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.
-
RPS19 p.Ala139fs
Conflicting
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Met1Val
Conflicting
Single submitter
Diamond-Blackfan anemia
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RPS19 p.Arg82His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 1
-
RPS19 p.Asp49His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS19 p.Lys122Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS19 p.Val103Asp
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS19 p.Val15Ile
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
- RPS19 p.Ala141Val Uncertain significance Single submitter
- RPS19 p.Arg67Pro Uncertain significance Single submitter
-
RPS19 p.Arg67Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Arg82Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Asn51Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.Gln137Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Gly120Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Gly127Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Gly26Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Gly73Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Gly80Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Gly81Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.His63Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Leu104Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.Leu107Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Leu107Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Leu123Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Leu131Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Lys38Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Met88Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Pro2Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPS19 p.Pro47Ser Uncertain significance Single submitter
-
RPS19 p.Pro89Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Thr36Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.Val37Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Val9Met
Uncertain significance
Single submitter
Diamond-Blackfan anemia
Predictors split 30
The independent predictors disagree with each other — read with care.
-
RPS19 p.Ala70Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 1
-
RPS19 p.Arg94Gly
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS19 p.Leu22Phe
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 1
-
RPS19 p.Lys43Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS19 p.Pro125Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 1
-
RPS19 p.Val4Phe
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS19 p.Val87Ile
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPS19 p.Ala106Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Ala17Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Ala20Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Ala20Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Ala20Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Ala57Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Ala61Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPS19 p.Ala70Ser Uncertain significance Single submitter
-
RPS19 p.Arg67Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Arg94Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPS19 p.Asn51Ser Uncertain significance Single submitter
-
RPS19 p.His42Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.Leu110Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Leu18Pro
Pathogenic
Single submitter
Diamond-Blackfan anemia
- RPS19 p.Leu39Val Uncertain significance Single submitter
-
RPS19 p.Lys23Arg
Conflicting
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Lys24Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Lys27Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Phe53Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Ser93Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.Thr55Met
Conflicting
Single submitter
Diamond-Blackfan anemia 1
-
RPS19 p.Thr76Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPS19 p.Thr76Ile
Uncertain significance
No assertion criteria
RPS19-related disorder
All RPS19 variants
Pathogenic 49
- p.Arg129fs Multiple submitters Diamond-Blackfan anemia
- p.Arg62Gln Multiple submitters Diamond-Blackfan anemia
- p.Arg94Ter Multiple submitters RPS19-related disorder
- p.Asp130fs Multiple submitters Diamond-Blackfan anemia
- p.Gln126Ter Multiple submitters Diamond-Blackfan anemia 1
- p.Glu32Ter Multiple submitters Diamond-Blackfan anemia 1
- p.Gly136Ter Multiple submitters Diamond-Blackfan anemia
- p.Trp33Ter Multiple submitters Diamond-Blackfan anemia 1
- c.1-2A>C Single submitter Diamond-Blackfan anemia 1
- c.1-2A>G Single submitter
- c.172+1G>C Single submitter
- c.173-1G>T Single submitter Diamond-Blackfan anemia
- c.173-2A>G Single submitter Diamond-Blackfan anemia
- c.357-2A>G Single submitter Diamond-Blackfan anemia
- c.411+2T>C Single submitter
- p.Ala100fs Single submitter Diamond-Blackfan anemia
- p.Ala106fs Single submitter Diamond-Blackfan anemia 1
- p.Ala135fs Single submitter Diamond-Blackfan anemia 1
- p.Arg56Ter Single submitter Diamond-Blackfan anemia
- p.Arg62Pro Single submitter Diamond-Blackfan anemia
- p.Asn142fs Single submitter Diamond-Blackfan anemia
- p.Asp116fs Single submitter Diamond-Blackfan anemia
- p.Asp8fs Single submitter Diamond-Blackfan anemia
- p.Gln11delinsProTer Single submitter Diamond-Blackfan anemia 1
- p.Gln11Ter Single submitter Diamond-Blackfan anemia
- p.Gln12fs Single submitter Diamond-Blackfan anemia
- p.Gln12Ter Single submitter Diamond-Blackfan anemia
- p.Gln137fs Single submitter Diamond-Blackfan anemia
- p.Glu44fs Single submitter
- p.Gly81fs Single submitter Diamond-Blackfan anemia 1
- p.Leu18Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Leu64Pro Single submitter Diamond-Blackfan anemia
- p.Lys43fs Single submitter
- p.Lys97fs Single submitter Diamond-Blackfan anemia
- p.Met1Leu Single submitter Diamond-Blackfan anemia
- p.Phe21fs Single submitter Diamond-Blackfan anemia
- p.Pro125fs Single submitter
- p.Thr36fs Single submitter
- p.Thr5_Val6insTer Single submitter Diamond-Blackfan anemia
- p.Tyr54Ter Single submitter Diamond-Blackfan anemia
- p.Val15Phe Single submitter
- p.Val34fs Single submitter Diamond-Blackfan anemia
- p.Val4fs Single submitter RPS19-related disorder
- p.Val87fs Single submitter Diamond-Blackfan anemia
- p.Val99fs Single submitter Diamond-Blackfan anemia 1
- c.1-231_173-3418del No assertion criteria Diamond-Blackfan anemia 1
- p.Arg84Ter No assertion criteria Diamond-Blackfan anemia 1
- p.Leu123_Thr124insTer No assertion criteria Diamond-Blackfan anemia 1
- p.Val103fs No assertion criteria Diamond-Blackfan anemia 1
Pathogenic/Likely pathogenic 7
- c.412-2A>G Multiple submitters Diamond-Blackfan anemia
- p.Arg101His Multiple submitters Diamond-Blackfan anemia 1
- p.Arg16fs Multiple submitters Diamond-Blackfan anemia
- p.Arg62Trp Multiple submitters RPS19-related disorder
- p.Gln105Ter Multiple submitters Diamond-Blackfan anemia
- p.Lys27Ter Multiple submitters Diamond-Blackfan anemia 1
- p.Met1Ile Multiple submitters Diamond-Blackfan anemia
Likely pathogenic 28
- c.356+1G>A Multiple submitters RPS19-related disorder
- p.Arg56Leu Multiple submitters Diamond-Blackfan anemia
- p.Asp118Gly Multiple submitters Diamond-Blackfan anemia 1 ⚠
- p.Val113del Multiple submitters Diamond-Blackfan anemia
- c.172+1G>A Single submitter Diamond-Blackfan anemia
- c.172+1G>T Single submitter RPS19-related disorder
- c.411+2_411+6del Single submitter Diamond-Blackfan anemia
- c.71+1G>C Single submitter Diamond-Blackfan anemia
- c.72-1G>A Single submitter Diamond-Blackfan anemia
- c.72-1G>C Single submitter
- p.Ala17Pro Single submitter
- p.Ala20Pro Single submitter RPS19-related disorder
- p.Ala57Pro Single submitter Diamond-Blackfan anemia
- p.Arg101Pro Single submitter
- p.Arg121Leu Single submitter Diamond-Blackfan anemia
- p.Arg56Gln Single submitter Diamond-Blackfan anemia
- p.Arg56Gly Single submitter
- p.Arg62Gly Single submitter Diamond-Blackfan anemia 1
- p.Gln128Ter Single submitter Diamond-Blackfan anemia
- p.Gly127Glu Single submitter Diamond-Blackfan anemia
- p.Lys24fs Single submitter Diamond-Blackfan anemia 1
- p.Lys41fs Single submitter Diamond-Blackfan anemia 1
- p.Pro47Leu Single submitter Diamond-Blackfan anemia
- p.Ser59Phe Single submitter Diamond-Blackfan anemia
- p.Ser93fs Single submitter RPS19-related disorder
- p.Thr5fs Single submitter Diamond-Blackfan anemia 1
- p.Thr60Pro Single submitter
- c.356+3A>C No assertion criteria Diamond-Blackfan anemia 1
Conflicting classifications of pathogenicity 15
- c.1-7C>T Single submitter Diamond-Blackfan anemia 1
- c.173-9T>C Single submitter Diamond-Blackfan anemia
- c.357-9_357-5del Single submitter Diamond-Blackfan anemia
- c.72-15C>G Single submitter Diamond-Blackfan anemia 1
- c.72-9del Single submitter Diamond-Blackfan anemia
- p.Ala139fs Single submitter Diamond-Blackfan anemia ⚠
- p.Arg101Cys Single submitter Diamond-Blackfan anemia 1 ⚠
- p.Arg129= Single submitter Diamond-Blackfan anemia
- p.Gly119= Single submitter Diamond-Blackfan anemia
- p.Leu131= Single submitter Diamond-Blackfan anemia
- p.Leu64= Single submitter Diamond-Blackfan anemia
- p.Lys23Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Met1Val Single submitter Diamond-Blackfan anemia ⚠
- p.Thr55Met Single submitter Diamond-Blackfan anemia 1 ⚠
- p.Val72Phe Single submitter Landsteiner-Wiener phenotype ⚠
Benign 11
- c.356+14= Multiple submitters Diamond-Blackfan anemia 1
- c.356+169CT[2] Multiple submitters Diamond-Blackfan anemia
- c.412-131T>C Multiple submitters
- c.-1+26G>T Multiple submitters Diamond-Blackfan anemia
- c.-1+36= Multiple submitters
- c.173-19C>G Single submitter Diamond-Blackfan anemia
- c.356+14delinsGG Single submitter Diamond-Blackfan anemia
- c.-1+94C>G Single submitter
- c.-234G>A Single submitter Diamond-Blackfan anemia 1
- c.-274T>C Single submitter Diamond-Blackfan anemia 1
- c.-288A>C Single submitter Diamond-Blackfan anemia 1
Benign/Likely benign 7
- c.1-13C>T Multiple submitters Diamond-Blackfan anemia 1
- c.356+18G>C Multiple submitters Diamond-Blackfan anemia 1
- c.411+12G>A Multiple submitters Diamond-Blackfan anemia 1
- c.411+6G>C Multiple submitters Diamond-Blackfan anemia
- c.71+12del Multiple submitters Diamond-Blackfan anemia
- c.72-17C>G Multiple submitters Diamond-Blackfan anemia 1
- p.Ala20= Multiple submitters Diamond-Blackfan anemia
Likely benign 79
- c.1-14A>G Multiple submitters Diamond-Blackfan anemia 1
- c.173-20C>G Multiple submitters Diamond-Blackfan anemia
- c.356+12del Multiple submitters Diamond-Blackfan anemia
- c.356+13G>C Multiple submitters Diamond-Blackfan anemia
- c.411+11C>T Multiple submitters Diamond-Blackfan anemia
- c.411+19G>T Multiple submitters Diamond-Blackfan anemia
- c.71+18G>A Multiple submitters Diamond-Blackfan anemia
- c.71+19G>A Multiple submitters Diamond-Blackfan anemia
- c.72-92A>G Multiple submitters Diamond-Blackfan anemia
- p.Asp8= Multiple submitters Diamond-Blackfan anemia
- p.Gly69= Multiple submitters Diamond-Blackfan anemia
- p.Ile134= Multiple submitters Diamond-Blackfan anemia
- p.Lys111= Multiple submitters Diamond-Blackfan anemia
- p.Phe53= Multiple submitters Diamond-Blackfan anemia
- p.Phe92= Multiple submitters Diamond-Blackfan anemia
- p.Pro2= Multiple submitters Diamond-Blackfan anemia
- p.Ser25= Multiple submitters Diamond-Blackfan anemia 1
- p.Ser96= Multiple submitters Diamond-Blackfan anemia
- c.1-9C>A Single submitter Diamond-Blackfan anemia 1
- c.172+14G>C Single submitter Diamond-Blackfan anemia
- c.172+17T>C Single submitter Diamond-Blackfan anemia
- c.172+8A>G Single submitter
- c.173-16C>G Single submitter Diamond-Blackfan anemia
- c.173-16C>T Single submitter Diamond-Blackfan anemia
- c.173-20C>T Single submitter Diamond-Blackfan anemia
- c.173-6C>T Single submitter Diamond-Blackfan anemia
- c.173-8_173-7delinsTT Single submitter Diamond-Blackfan anemia
- c.356+12A>G Single submitter Diamond-Blackfan anemia
- c.356+13G>T Single submitter Diamond-Blackfan anemia
- c.356+14A>C Single submitter Diamond-Blackfan anemia
- c.356+15G>A Single submitter Diamond-Blackfan anemia
- c.356+18G>A Single submitter Diamond-Blackfan anemia
- c.356+18G>T Single submitter Diamond-Blackfan anemia
- c.356+19G>A Single submitter Diamond-Blackfan anemia
- c.356+8G>T Single submitter Diamond-Blackfan anemia
- c.357-10C>T Single submitter Diamond-Blackfan anemia
- c.357-17C>T Single submitter Diamond-Blackfan anemia
- c.357-6C>T Single submitter Diamond-Blackfan anemia
- c.411+17G>A Single submitter Diamond-Blackfan anemia
- c.411+19G>A Single submitter Diamond-Blackfan anemia
- c.411+20T>G Single submitter Diamond-Blackfan anemia
- c.412-14A>G Single submitter
- c.412-7C>T Single submitter Diamond-Blackfan anemia
- c.71+8T>C Single submitter
- c.71+9G>A Single submitter Diamond-Blackfan anemia
- c.72-10T>G Single submitter Diamond-Blackfan anemia
- c.72-15C>T Single submitter Diamond-Blackfan anemia
- c.72-17C>T Single submitter
- c.72-5C>T Single submitter
- c.-10A>G Single submitter Diamond-Blackfan anemia 1
- p.Ala135= Single submitter Diamond-Blackfan anemia
- p.Ala141= Single submitter Diamond-Blackfan anemia
- p.Ala19= Single submitter Diamond-Blackfan anemia
- p.Ala40= Single submitter Diamond-Blackfan anemia
- p.Ala57Val Single submitter Diamond-Blackfan anemia 1
- p.Ala61= Single submitter Diamond-Blackfan anemia
- p.Arg101= Single submitter Diamond-Blackfan anemia
- p.Arg67= Single submitter
- p.Asn85= Single submitter Diamond-Blackfan anemia
- p.Gln126= Single submitter
- p.Glu114= Single submitter Diamond-Blackfan anemia
- p.Glu44= Single submitter Diamond-Blackfan anemia
- p.Gly127= Single submitter Diamond-Blackfan anemia
- p.Gly71= Single submitter Diamond-Blackfan anemia
- p.His42= Single submitter Diamond-Blackfan anemia
- p.Leu110= Single submitter Diamond-Blackfan anemia
- p.Leu18= Single submitter Diamond-Blackfan anemia
- p.Lys29= Single submitter Diamond-Blackfan anemia
- p.Lys38= Single submitter Diamond-Blackfan anemia
- p.Pro31= Single submitter Diamond-Blackfan anemia
- p.Pro47= Single submitter Diamond-Blackfan anemia
- p.Ser93= Single submitter Diamond-Blackfan anemia
- p.Thr124= Single submitter Diamond-Blackfan anemia
- p.Thr36= Single submitter Diamond-Blackfan anemia
- p.Thr5= Single submitter Diamond-Blackfan anemia
- p.Thr55= Single submitter Diamond-Blackfan anemia
- p.Tyr48= Single submitter Diamond-Blackfan anemia
- p.Val15= Single submitter Diamond-Blackfan anemia
- p.Val30= Single submitter Diamond-Blackfan anemia
Uncertain significance 96
- c.356+5G>A Multiple submitters Diamond-Blackfan anemia 1
- c.412-3C>T Multiple submitters Diamond-Blackfan anemia
- c.412-8_412-1dup Multiple submitters Diamond-Blackfan anemia
- c.-137C>T Multiple submitters
- p.Ala70Thr Multiple submitters Diamond-Blackfan anemia 1 ⚠
- p.Arg82His Multiple submitters Diamond-Blackfan anemia 1 ⚠
- p.Arg94Gly Multiple submitters Diamond-Blackfan anemia ⚠
- p.Asp49His Multiple submitters Diamond-Blackfan anemia ⚠
- p.Leu22Phe Multiple submitters Diamond-Blackfan anemia 1 ⚠
- p.Lys122Arg Multiple submitters Diamond-Blackfan anemia ⚠
- p.Lys43Arg Multiple submitters Diamond-Blackfan anemia ⚠
- p.Pro125Thr Multiple submitters Diamond-Blackfan anemia 1 ⚠
- p.Val103Asp Multiple submitters Diamond-Blackfan anemia ⚠
- p.Val15Ile Multiple submitters Diamond-Blackfan anemia ⚠
- p.Val4Phe Multiple submitters Diamond-Blackfan anemia ⚠
- p.Val87Ile Multiple submitters Diamond-Blackfan anemia ⚠
- c.1-5C>G Single submitter
- c.1-9C>T Single submitter Diamond-Blackfan anemia 1
- c.172+3G>A Single submitter
- c.172+5G>C Single submitter Diamond-Blackfan anemia 1
- c.172+6G>A Single submitter Diamond-Blackfan anemia
- c.172+907A>G Single submitter
- c.173-3del Single submitter
- c.357-3C>A Single submitter Diamond-Blackfan anemia
- c.357-5C>G Single submitter Diamond-Blackfan anemia 1
- c.411+16G>C Single submitter Diamond-Blackfan anemia
- c.411+1G>A Single submitter Diamond-Blackfan anemia
- c.411+3A>G Single submitter Diamond-Blackfan anemia
- c.411+6G>T Single submitter Diamond-Blackfan anemia
- c.71+6T>A Single submitter Diamond-Blackfan anemia 1
- c.72-9T>A Single submitter Diamond-Blackfan anemia
- c.-1+14C>T Single submitter Diamond-Blackfan anemia 1
- c.-151G>T Single submitter Diamond-Blackfan anemia 1
- c.-167C>T Single submitter
- c.-180C>T Single submitter
- c.-190C>G Single submitter Diamond-Blackfan anemia 1
- c.-26C>T Single submitter Diamond-Blackfan anemia 1
- c.-339T>C Single submitter Diamond-Blackfan anemia 1
- c.-33C>T Single submitter
- c.-50G>A Single submitter Diamond-Blackfan anemia 1
- c.-74C>T Single submitter Diamond-Blackfan anemia 1
- p.Ala106Val Single submitter Diamond-Blackfan anemia ⚠
- p.Ala141Val Single submitter ⚠
- p.Ala17Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala20Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Ala20Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala20Val Single submitter Diamond-Blackfan anemia ⚠
- p.Ala57Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala61Val Single submitter Diamond-Blackfan anemia ⚠
- p.Ala70Ser Single submitter ⚠
- p.Arg102Gln Single submitter Diamond-Blackfan anemia
- p.Arg67Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Arg67Pro Single submitter ⚠
- p.Arg67Trp Single submitter Diamond-Blackfan anemia ⚠
- p.Arg82Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Arg94Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Asn51Asp Single submitter Diamond-Blackfan anemia 1 ⚠
- p.Asn51Ser Single submitter ⚠
- p.Gln117= Single submitter
- p.Gln137Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Gln137Ter Single submitter Diamond-Blackfan anemia
- p.Gly120Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Gly127Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Gly26Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Gly73Val Single submitter Diamond-Blackfan anemia ⚠
- p.Gly80Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Gly81Glu Single submitter Diamond-Blackfan anemia 1 ⚠
- p.Gly95= Single submitter
- p.His42Tyr Single submitter Diamond-Blackfan anemia 1 ⚠
- p.His63fs Single submitter Diamond-Blackfan anemia 1
- p.His63Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Leu104Pro Single submitter Diamond-Blackfan anemia 1 ⚠
- p.Leu107Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Leu107Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Leu110Val Single submitter Diamond-Blackfan anemia ⚠
- p.Leu123Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Leu131Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Leu39Val Single submitter ⚠
- p.Leu66= Single submitter Diamond-Blackfan anemia 1
- p.Lys24Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Lys27Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Lys38Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Lys7_Asp8delinsThrProAlaSerSerTyr Single submitter
- p.Met88Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Phe53Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Pro2Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Pro47Ser Single submitter ⚠
- p.Pro89Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Ser59Leu Single submitter Diamond-Blackfan anemia
- p.Ser93Thr Single submitter Diamond-Blackfan anemia 1 ⚠
- p.Thr36Ala Single submitter Diamond-Blackfan anemia 1 ⚠
- p.Thr76Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Val138fs Single submitter Diamond-Blackfan anemia
- p.Val37Phe Single submitter Diamond-Blackfan anemia ⚠
- p.Val9Met Single submitter Diamond-Blackfan anemia ⚠
- p.Thr76Ile No assertion criteria RPS19-related disorder ⚠