RPL5 — 362 ClinVar variants
All ClinVar germline RPL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
51 Pathogenic · 10 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 13 Conflicting · 15 Benign · 15 Benign/Likely benign · 93 Likely benign · 137 Uncertain significance
Full RPL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RPL5 p.Asp234Gly
Conflicting
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Ile135Val
Conflicting
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Phe142Leu
Conflicting
Single submitter
Diamond-Blackfan anemia
Predictors lean, ClinVar uncertain 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RPL5 p.Ala78Gly
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Arg107Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Arg107His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Arg196Trp
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Arg35Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Arg68Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Asn57Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Asp234Tyr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Glu189Gly
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Ile173Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Pro139Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Ser187Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Tyr79Asn
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Tyr86Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Val231Ile
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Val280Ile
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Ala106Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL5 p.Ala162Ser Uncertain significance Single submitter
-
RPL5 p.Ala285Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ala290Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ala65Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Ala78Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ala97Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Arg112Lys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL5 p.Arg23Gln Uncertain significance Single submitter
-
RPL5 p.Arg293Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Arg54Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Arg54His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Arg68His
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Asn111Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Asp184Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL5 p.Asp217Gly Uncertain significance Single submitter
-
RPL5 p.Asp40Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Asp59Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Cys100Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Gln122Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Glu214Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
- RPL5 p.Glu214Gly Uncertain significance Single submitter
-
RPL5 p.Glu70Lys
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Glu82Lys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Gly140Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Gly201Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Gly91Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.His195Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL5 p.His81Arg Uncertain significance Single submitter
-
RPL5 p.Ile118Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ile60Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ile64Met
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ile74Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Leu150Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Leu211Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Lys197Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Met200Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Met208Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Met235Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Met235Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Pro47Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Pro84Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ser134Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Ser230Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Tyr12Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Tyr240His
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Tyr79Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Val123Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Val204Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Glu25Gly
Uncertain significance
No assertion criteria
RPL5-related disorder
- RPL5 p.Thr101Ser Uncertain significance No assertion criteria
Predictors split 40
The independent predictors disagree with each other — read with care.
-
RPL5 p.Ala106Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Ala77Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Arg268His
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Arg293Gln
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Glu260Ala
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Lys158Asn
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Met115Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Met200Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Val261Leu
Benign/Likely benign
Multiple submitters
Diamond-Blackfan anemia 6
-
RPL5 p.Val90Ala
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia
-
RPL5 p.Ala148Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ala205Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ala205Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
- RPL5 p.Ala246Gly Uncertain significance Single submitter
-
RPL5 p.Arg209Cys
Conflicting
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Arg209Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Asn131Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Asp278Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Asp278Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Gln222His
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Gln225Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Glu186Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Glu189Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Glu254Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Glu292Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Ile135Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ile74Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Lys221Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Lys262Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Lys263Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Lys277Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Lys89Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Met239Val
Conflicting
Single submitter
Diamond-Blackfan anemia 6
-
RPL5 p.Ser286Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Ser297Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Thr126Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Thr232Ile
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Tyr253Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL5 p.Tyr31Phe
Uncertain significance
Single submitter
intellectual disability
-
RPL5 p.Val125Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
All RPL5 variants
Pathogenic 51
- p.Arg23Ter Multiple submitters RPL5-related disorder
- p.Asn57fs Multiple submitters RPL5-related disorder
- p.Asp59fs Multiple submitters RPL5-related disorder
- p.Glu82Ter Multiple submitters RPL5-related disorder
- c.4-7_4-4del Single submitter Diamond-Blackfan anemia
- c.527+1_527+2delinsTG Single submitter
- c.74-1G>C Single submitter Dry skin
- p.Arg112fs Single submitter
- p.Arg24fs Single submitter Diamond-Blackfan anemia
- p.Arg54Pro Single submitter Diamond-Blackfan anemia
- p.Arg58fs Single submitter Diamond-Blackfan anemia
- p.Asn203fs Single submitter Diamond-Blackfan anemia
- p.Asn9fs Single submitter Diamond-Blackfan anemia
- p.Asp168fs Single submitter Diamond-Blackfan anemia
- p.Asp72fs Single submitter Diamond-Blackfan anemia
- p.Gln138Ter Single submitter Diamond-Blackfan anemia
- p.Gln222Ter Single submitter Diamond-Blackfan anemia 6
- p.Gln39fs Single submitter Diamond-Blackfan anemia
- p.Gln63Ter Single submitter Diamond-Blackfan anemia
- p.Glu129Ter Single submitter Diamond-Blackfan anemia
- p.Glu214fs Single submitter Diamond-Blackfan anemia
- p.Gly91fs Single submitter Diamond-Blackfan anemia
- p.Ile135fs Single submitter
- p.Ile173fs Single submitter
- p.Lys14fs Single submitter Inborn genetic diseases
- p.Lys48fs Single submitter
- p.Lys8Ter Single submitter Diamond-Blackfan anemia
- p.Met1Arg Single submitter Diamond-Blackfan anemia
- p.Met1Ile Single submitter Diamond-Blackfan anemia
- p.Met1Leu Single submitter Diamond-Blackfan anemia
- p.Met1Val Single submitter
- p.Met212fs Single submitter Diamond-Blackfan anemia
- p.Met51fs Single submitter Diamond-Blackfan anemia
- p.Phe160fs Single submitter Diamond-Blackfan anemia
- p.Phe20fs Single submitter Diamond-Blackfan anemia
- p.Thr154Ter Single submitter Diamond-Blackfan anemia 6
- p.Thr177fs Single submitter Diamond-Blackfan anemia
- p.Thr232fs Single submitter Diamond-Blackfan anemia 6
- p.Thr28fs Single submitter Diamond-Blackfan anemia
- p.Tyr16fs Single submitter
- p.Tyr16Ter Single submitter Diamond-Blackfan anemia
- p.Tyr207fs Single submitter Diamond-Blackfan anemia
- p.Tyr219Ter Single submitter
- p.Tyr31Ter Single submitter Diamond-Blackfan anemia
- p.Tyr44Ter Single submitter Diamond-Blackfan anemia
- p.Tyr79fs Single submitter Diamond-Blackfan anemia 6
- p.Tyr86fs Single submitter Diamond-Blackfan anemia
- p.Val159fs Single submitter
- p.Val75fs Single submitter Diamond-Blackfan anemia
- c.73+2T>G No assertion criteria Diamond-Blackfan anemia 6
- p.Val90fs No assertion criteria Diamond-Blackfan anemia 6
Pathogenic/Likely pathogenic 10
- c.3+1G>A Multiple submitters Diamond-Blackfan anemia
- c.527+1G>T Multiple submitters Diamond-Blackfan anemia 6
- c.74-1G>A Multiple submitters Diamond-Blackfan anemia
- p.Arg179Ter Multiple submitters Diamond-Blackfan anemia
- p.Arg248Ter Multiple submitters Diamond-Blackfan anemia
- p.Arg24Ter Multiple submitters RPL5-related disorder
- p.Gln39Ter Multiple submitters Diamond-Blackfan anemia 6
- p.Ile60fs Multiple submitters Diamond-Blackfan anemia
- p.Val53Ter Multiple submitters Diamond-Blackfan anemia 6
- p.Val6fs Multiple submitters Diamond-Blackfan anemia
Likely pathogenic 28
- c.4-1G>A Multiple submitters Diamond-Blackfan anemia 6
- p.Lys41fs Multiple submitters Diamond-Blackfan anemia 6
- c.189+1G>A Single submitter Diamond-Blackfan anemia 6
- c.189+1G>C Single submitter Diamond-Blackfan anemia 6
- c.189+1G>T Single submitter Diamond-Blackfan anemia
- c.190-1G>C Single submitter RPL5-related disorder
- c.190-2A>G Single submitter Diamond-Blackfan anemia 6
- c.4-10T>A Single submitter Diamond-Blackfan anemia
- c.73+1G>A Single submitter Inborn genetic diseases
- c.74-2A>G Single submitter Diamond-Blackfan anemia
- c.74-2del Single submitter Diamond-Blackfan anemia
- p.Ala205fs Single submitter Diamond-Blackfan anemia 6
- p.Asn94_Tyr95insTer Single submitter RPL5-related disorder
- p.Gln202Ter Single submitter Diamond-Blackfan anemia 6
- p.Glu120fs Single submitter RPL5-related disorder
- p.Glu133fs Single submitter Diamond-Blackfan anemia 6
- p.Gly137fs Single submitter RPL5-related disorder
- p.Gly169fs Single submitter
- p.Gly170fs Single submitter Diamond-Blackfan anemia 6
- p.Ile38Ter Single submitter
- p.Leu109Pro Single submitter Diamond-Blackfan anemia
- p.Lys256fs Single submitter
- p.Lys85fs Single submitter Diamond-Blackfan anemia 6
- p.Lys89Ter Single submitter RPL5-related disorder
- p.Met200fs Single submitter RPL5-related disorder
- p.Phe3fs Single submitter Diamond-Blackfan anemia 6
- p.Tyr30fs Single submitter RPL5-related disorder
- c.189+2T>G No assertion criteria Diamond-Blackfan anemia 6
Conflicting classifications of pathogenicity 13
- c.190-7_190-2del Single submitter Diamond-Blackfan anemia
- c.3+11G>C Single submitter Diamond-Blackfan anemia
- c.3+5G>C Single submitter Diamond-Blackfan anemia
- c.325-11T>G Single submitter Diamond-Blackfan anemia 6
- c.*1A>G Single submitter Diamond-Blackfan anemia
- p.Arg209Cys Single submitter Diamond-Blackfan anemia ⚠
- p.Arg24= Single submitter Diamond-Blackfan anemia
- p.Asp234Gly Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Cys76= Single submitter Diamond-Blackfan anemia
- p.Gly140Ser Single submitter Diamond-Blackfan anemia
- p.Ile135Val Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Met239Val Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Phe142Leu Single submitter Diamond-Blackfan anemia ⚠
Benign 15
- c.795-21A>G Multiple submitters
- c.795-9C>A Multiple submitters Diamond-Blackfan anemia
- c.-55C>G Multiple submitters Diamond-Blackfan anemia 6
- p.Gln282= Multiple submitters Diamond-Blackfan anemia 6
- p.Tyr86= Multiple submitters Diamond-Blackfan anemia 6
- c.705+39del Single submitter
- c.74-8dup Single submitter Diamond-Blackfan anemia
- c.794+121G>A Single submitter
- c.794+17_794+19del Single submitter Diamond-Blackfan anemia
- c.795-110G>T Single submitter
- c.-42A>C Single submitter Diamond-Blackfan anemia 6
- c.-48G>A Single submitter Diamond-Blackfan anemia 6
- c.-52C>G Single submitter Diamond-Blackfan anemia 6
- c.*47T>C Single submitter Diamond-Blackfan anemia 6
- n.15C>A Single submitter
Benign/Likely benign 15
- c.3+11G>A Multiple submitters Diamond-Blackfan anemia
- c.3+12C>T Multiple submitters Diamond-Blackfan anemia
- c.3+13C>T Multiple submitters Diamond-Blackfan anemia
- c.3+3G>C Multiple submitters Diamond-Blackfan anemia 1
- c.324+14G>T Multiple submitters Diamond-Blackfan anemia
- c.325-4A>G Multiple submitters Diamond-Blackfan anemia
- c.794+16_794+19del Multiple submitters Diamond-Blackfan anemia
- c.794+19dup Multiple submitters Diamond-Blackfan anemia
- c.-18C>A Multiple submitters Diamond-Blackfan anemia 6
- c.-58G>T Multiple submitters Diamond-Blackfan anemia 6
- p.Ala141= Multiple submitters Diamond-Blackfan anemia
- p.Asp136= Multiple submitters Diamond-Blackfan anemia
- p.Tyr210Cys Multiple submitters Diamond-Blackfan anemia 1
- p.Val261Leu Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Val55= Multiple submitters Diamond-Blackfan anemia 6
Likely benign 93
- c.4-4T>C Multiple submitters Diamond-Blackfan anemia 6
- c.527+7A>T Multiple submitters Diamond-Blackfan anemia
- c.794+8G>A Multiple submitters Diamond-Blackfan anemia
- c.-6C>T Multiple submitters Diamond-Blackfan anemia 6
- p.Arg68= Multiple submitters Diamond-Blackfan anemia
- p.Gln17= Multiple submitters Diamond-Blackfan anemia
- p.Gly127= Multiple submitters Diamond-Blackfan anemia
- p.Ile52= Multiple submitters Diamond-Blackfan anemia
- p.Leu103= Multiple submitters Diamond-Blackfan anemia
- p.Leu104= Multiple submitters Diamond-Blackfan anemia
- p.Pro269= Multiple submitters Diamond-Blackfan anemia
- p.Pro47= Multiple submitters Diamond-Blackfan anemia
- p.Tyr145= Multiple submitters Diamond-Blackfan anemia
- c.189+18C>A Single submitter Diamond-Blackfan anemia
- c.189+20G>A Single submitter Diamond-Blackfan anemia
- c.190-10C>T Single submitter Diamond-Blackfan anemia
- c.190-18G>C Single submitter Diamond-Blackfan anemia
- c.190-18G>T Single submitter Diamond-Blackfan anemia
- c.190-4A>G Single submitter Diamond-Blackfan anemia
- c.190-6C>A Single submitter Diamond-Blackfan anemia
- c.3+11G>T Single submitter Diamond-Blackfan anemia
- c.3+17G>A Single submitter Diamond-Blackfan anemia
- c.3+18T>G Single submitter Diamond-Blackfan anemia
- c.3+19C>G Single submitter Diamond-Blackfan anemia
- c.324+12A>T Single submitter Diamond-Blackfan anemia
- c.324+15A>T Single submitter Diamond-Blackfan anemia
- c.324+8C>A Single submitter Diamond-Blackfan anemia
- c.325-16T>C Single submitter Diamond-Blackfan anemia
- c.325-17A>G Single submitter Diamond-Blackfan anemia
- c.4-15T>G Single submitter Diamond-Blackfan anemia
- c.4-17A>T Single submitter Diamond-Blackfan anemia
- c.4-7C>T Single submitter Diamond-Blackfan anemia
- c.4-7del Single submitter Diamond-Blackfan anemia
- c.4-9T>C Single submitter Diamond-Blackfan anemia
- c.527+10C>T Single submitter Diamond-Blackfan anemia
- c.527+14_527+17dup Single submitter Diamond-Blackfan anemia
- c.527+20C>T Single submitter Diamond-Blackfan anemia
- c.527+7_527+19del Single submitter Diamond-Blackfan anemia
- c.528-17G>A Single submitter Diamond-Blackfan anemia
- c.528-20T>C Single submitter Diamond-Blackfan anemia
- c.705+14C>T Single submitter Diamond-Blackfan anemia
- c.705+17A>T Single submitter Diamond-Blackfan anemia
- c.706-10T>C Single submitter Diamond-Blackfan anemia
- c.706-13T>A Single submitter Diamond-Blackfan anemia
- c.706-17G>A Single submitter Diamond-Blackfan anemia
- c.73+10C>T Single submitter Diamond-Blackfan anemia
- c.73+11C>G Single submitter Diamond-Blackfan anemia
- c.73+15T>C Single submitter Diamond-Blackfan anemia
- c.73+6_73+7dup Single submitter Diamond-Blackfan anemia
- c.73+9dup Single submitter Diamond-Blackfan anemia
- c.74-15_74-13del Single submitter Diamond-Blackfan anemia
- c.74-19A>G Single submitter Diamond-Blackfan anemia
- c.74-7C>T Single submitter Diamond-Blackfan anemia
- c.794+10_794+12del Single submitter Diamond-Blackfan anemia
- c.794+19del Single submitter
- c.794+7C>T Single submitter Diamond-Blackfan anemia
- c.795-14C>A Single submitter Diamond-Blackfan anemia
- c.795-14C>G Single submitter Diamond-Blackfan anemia
- c.795-4G>A Single submitter Diamond-Blackfan anemia
- c.-13T>A Single submitter
- c.-38C>T Single submitter Diamond-Blackfan anemia 6
- c.-62C>G Single submitter Diamond-Blackfan anemia 6
- p.Ala192= Single submitter Diamond-Blackfan anemia
- p.Ala77= Single submitter Diamond-Blackfan anemia
- p.Ala78= Single submitter Diamond-Blackfan anemia
- p.Ala98= Single submitter Diamond-Blackfan anemia
- p.Arg196= Single submitter Diamond-Blackfan anemia
- p.Arg23= Single submitter Diamond-Blackfan anemia
- p.Arg248= Single submitter Diamond-Blackfan anemia
- p.Arg265= Single submitter
- p.Asn131= Single submitter Diamond-Blackfan anemia
- p.Asp128= Single submitter Diamond-Blackfan anemia
- p.Asp217= Single submitter Diamond-Blackfan anemia
- p.Cys144= Single submitter
- p.Glu133= Single submitter Diamond-Blackfan anemia
- p.Gly156= Single submitter Diamond-Blackfan anemia
- p.Gly2= Single submitter Diamond-Blackfan anemia
- p.Gly26= Single submitter Diamond-Blackfan anemia
- p.His81= Single submitter Diamond-Blackfan anemia
- p.Ile173= Single submitter Diamond-Blackfan anemia
- p.Leu110= Single submitter Diamond-Blackfan anemia
- p.Lys188= Single submitter Diamond-Blackfan anemia
- p.Pro174= Single submitter Diamond-Blackfan anemia
- p.Ser230= Single submitter Diamond-Blackfan anemia
- p.Thr46= Single submitter Diamond-Blackfan anemia
- p.Tyr183= Single submitter Diamond-Blackfan anemia
- p.Tyr219= Single submitter Diamond-Blackfan anemia
- p.Tyr66= Single submitter Diamond-Blackfan anemia
- p.Tyr95= Single submitter Diamond-Blackfan anemia
- p.Val6= Single submitter Diamond-Blackfan anemia
- p.Val75= Single submitter Diamond-Blackfan anemia
- p.Val90= Single submitter Diamond-Blackfan anemia
- p.His244= No assertion criteria RPL5-related disorder
Uncertain significance 137
- c.325-14G>A Multiple submitters Diamond-Blackfan anemia 6
- p.Ala106Ser Multiple submitters Diamond-Blackfan anemia ⚠
- p.Ala77Thr Multiple submitters Diamond-Blackfan anemia ⚠
- p.Ala78Gly Multiple submitters Diamond-Blackfan anemia ⚠
- p.Arg107Cys Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Arg107His Multiple submitters Diamond-Blackfan anemia ⚠
- p.Arg196Gln Multiple submitters Diamond-Blackfan anemia
- p.Arg196Trp Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Arg268His Multiple submitters Diamond-Blackfan anemia ⚠
- p.Arg293Gln Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Arg35Cys Multiple submitters Diamond-Blackfan anemia ⚠
- p.Arg68Cys Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Asn57Ser Multiple submitters Diamond-Blackfan anemia ⚠
- p.Asp234Tyr Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Glu189Gly Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Glu260Ala Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Ile173Val Multiple submitters Diamond-Blackfan anemia ⚠
- p.Lys158Asn Multiple submitters Diamond-Blackfan anemia ⚠
- p.Met115Thr Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Met200Thr Multiple submitters Diamond-Blackfan anemia ⚠
- p.Pro139Ser Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Ser187Arg Multiple submitters Diamond-Blackfan anemia ⚠
- p.Tyr79Asn Multiple submitters Diamond-Blackfan anemia ⚠
- p.Tyr86Cys Multiple submitters Diamond-Blackfan anemia ⚠
- p.Val231Ile Multiple submitters Diamond-Blackfan anemia 6 ⚠
- p.Val280Ile Multiple submitters Diamond-Blackfan anemia ⚠
- p.Val90Ala Multiple submitters Diamond-Blackfan anemia ⚠
- c.189+15A>G Single submitter Diamond-Blackfan anemia 6
- c.189+2dup Single submitter Diamond-Blackfan anemia
- c.189+5G>A Single submitter Diamond-Blackfan anemia
- c.190-3T>C Single submitter Diamond-Blackfan anemia
- c.3+3G>A Single submitter Diamond-Blackfan anemia
- c.3+3G>T Single submitter Diamond-Blackfan anemia
- c.3+5G>A Single submitter Diamond-Blackfan anemia
- c.324+3A>G Single submitter Diamond-Blackfan anemia
- c.4-10T>C Single submitter Diamond-Blackfan anemia 6
- c.528-1G>A Single submitter Diamond-Blackfan anemia 6
- c.528-4T>A Single submitter
- c.705+4A>G Single submitter Diamond-Blackfan anemia
- c.706-1G>T Single submitter Diamond-Blackfan anemia 6
- c.73+4C>G Single submitter RPL5-related disorder
- c.74-23_74-11del Single submitter
- c.-2G>A Single submitter Diamond-Blackfan anemia 6
- c.-46C>G Single submitter Diamond-Blackfan anemia 6
- c.-64C>G Single submitter Diamond-Blackfan anemia 6
- c.-70T>A Single submitter Diamond-Blackfan anemia 6
- c.-74C>A Single submitter Diamond-Blackfan anemia 6
- p.Ala106Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala148Val Single submitter Diamond-Blackfan anemia ⚠
- p.Ala162Ser Single submitter ⚠
- p.Ala205Gly Single submitter Diamond-Blackfan anemia ⚠
- p.Ala205Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala246Gly Single submitter ⚠
- p.Ala285Glu Single submitter Diamond-Blackfan anemia ⚠
- p.Ala290Gly Single submitter
- p.Ala290Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala65Val Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Ala78Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ala97Thr Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Arg108= Single submitter
- p.Arg112Lys Single submitter Diamond-Blackfan anemia ⚠
- p.Arg209Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Arg23Gln Single submitter ⚠
- p.Arg293Trp Single submitter Diamond-Blackfan anemia ⚠
- p.Arg54Cys Single submitter Diamond-Blackfan anemia ⚠
- p.Arg54His Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Arg68His Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Asn111Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Asn131Asp Single submitter Diamond-Blackfan anemia ⚠
- p.Asn45Ser Single submitter Diamond-Blackfan anemia 6
- p.Asp184Tyr Single submitter Diamond-Blackfan anemia ⚠
- p.Asp217Gly Single submitter ⚠
- p.Asp278Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Asp278Glu Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Asp40Asn Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Asp59Gly Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Cys100Gly Single submitter Diamond-Blackfan anemia ⚠
- p.Gln122Glu Single submitter Diamond-Blackfan anemia ⚠
- p.Gln222His Single submitter Diamond-Blackfan anemia ⚠
- p.Gln225Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Glu186Gln Single submitter Diamond-Blackfan anemia ⚠
- p.Glu189Asp Single submitter Diamond-Blackfan anemia ⚠
- p.Glu214Asp Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Glu214del Single submitter Diamond-Blackfan anemia
- p.Glu214Gly Single submitter ⚠
- p.Glu254Gly Single submitter Diamond-Blackfan anemia ⚠
- p.Glu292Gly Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Glu70Lys Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Glu82Lys Single submitter Diamond-Blackfan anemia ⚠
- p.Gly140Asp Single submitter Diamond-Blackfan anemia ⚠
- p.Gly201Ser Single submitter Diamond-Blackfan anemia ⚠
- p.Gly91Val Single submitter Diamond-Blackfan anemia ⚠
- p.His195Asn Single submitter Diamond-Blackfan anemia ⚠
- p.His81Arg Single submitter ⚠
- p.Ile118Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ile135Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ile60Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ile64Met Single submitter Diamond-Blackfan anemia ⚠
- p.Ile74Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Ile74Val Single submitter Diamond-Blackfan anemia ⚠
- p.Leu105Val Single submitter Diamond-Blackfan anemia
- p.Leu150Phe Single submitter Diamond-Blackfan anemia ⚠
- p.Leu211Ile Single submitter Diamond-Blackfan anemia ⚠
- p.Lys197Glu Single submitter Diamond-Blackfan anemia ⚠
- p.Lys221Glu Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Lys256del Single submitter Diamond-Blackfan anemia
- p.Lys262Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Lys263Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Lys277Asn Single submitter Diamond-Blackfan anemia ⚠
- p.Lys89Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Met200Val Single submitter Diamond-Blackfan anemia ⚠
- p.Met208Thr Single submitter Diamond-Blackfan anemia ⚠
- p.Met235Ile Single submitter Diamond-Blackfan anemia ⚠
- p.Met235Val Single submitter Diamond-Blackfan anemia ⚠
- p.Pro181_Gly182delinsVal Single submitter Diamond-Blackfan anemia 6
- p.Pro47Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Pro84Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Ser134Arg Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Ser224Cys Single submitter Diamond-Blackfan anemia 6
- p.Ser230Cys Single submitter Diamond-Blackfan anemia ⚠
- p.Ser286= Single submitter Diamond-Blackfan anemia
- p.Ser286Gly Single submitter Diamond-Blackfan anemia ⚠
- p.Ser297Arg Single submitter Diamond-Blackfan anemia ⚠
- p.Ter298= Single submitter Diamond-Blackfan anemia 6
- p.Thr126Ile Single submitter Diamond-Blackfan anemia ⚠
- p.Thr143Ala Single submitter Diamond-Blackfan anemia
- p.Thr232Ile Single submitter Diamond-Blackfan anemia ⚠
- p.Tyr12Cys Single submitter Diamond-Blackfan anemia ⚠
- p.Tyr240His Single submitter Diamond-Blackfan anemia ⚠
- p.Tyr253Cys Single submitter Diamond-Blackfan anemia ⚠
- p.Tyr31Phe Single submitter intellectual disability ⚠
- p.Tyr79Phe Single submitter Diamond-Blackfan anemia 6 ⚠
- p.Val123Leu Single submitter Diamond-Blackfan anemia ⚠
- p.Val125Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Val204Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Glu25Gly No assertion criteria RPL5-related disorder ⚠
- p.Thr101Ser No assertion criteria ⚠