RPL35A — 134 ClinVar variants
All ClinVar germline RPL35A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
6 Pathogenic · 4 Likely pathogenic · 4 Conflicting · 6 Benign · 5 Benign/Likely benign · 48 Likely benign · 61 Uncertain significance
Full RPL35A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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RPL35A p.Tyr42Cys
Conflicting
Single submitter
Diamond-Blackfan anemia
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.
-
RPL35A p.Ala12Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Arg19Trp
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Arg76Gln
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Arg85Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Arg85Gly
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Ile10Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Ile70Thr
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Tyr14Cys
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Ala26Thr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Ala26Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Arg68Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Arg76Pro
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL35A p.Asn20Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Asn91Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Asp37Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Cys47Trp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL35A p.Glu38Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Gly17Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Gly32Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Gly44Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Ile101Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Lys29Glu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Pro107Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Pro93Leu
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Thr75Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Trp6Arg
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Tyr49Ser
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Val103Ala
Uncertain significance
Single submitter
Diamond-Blackfan anemia
-
RPL35A p.Val84Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia
Predictors split 22
The independent predictors disagree with each other — read with care.
-
RPL35A p.Ala12Val
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Arg89Gln
Benign/Likely benign
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Gly62Ser
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Lys15Arg
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Tyr14Phe
Uncertain significance
Multiple submitters
Diamond-Blackfan anemia 5
-
RPL35A p.Ala48Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Ala53Gly
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Arg36Gln
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Asp37Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Glu31Asp
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Gly62Cys
Likely benign
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.His99Tyr
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Ile97Val
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Lys54Asn
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
- RPL35A p.Lys66Gln Uncertain significance Single submitter
-
RPL35A p.Ser2Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
- RPL35A p.Ser90Asn Uncertain significance Single submitter
- RPL35A p.Thr67Ile Uncertain significance Single submitter
-
RPL35A p.Tyr34Cys
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Tyr34Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Tyr42Phe
Uncertain significance
Single submitter
Diamond-Blackfan anemia 5
-
RPL35A p.Val33Ile
Pathogenic
No assertion criteria
Diamond-Blackfan anemia 5
All RPL35A variants
Pathogenic 6
- p.Glu40fs Multiple submitters Diamond-Blackfan anemia 5
- p.Ala48_Tyr49insTer Single submitter Diamond-Blackfan anemia 5
- p.Lys87fs Single submitter Diamond-Blackfan anemia 5
- p.Trp71Ter Single submitter Diamond-Blackfan anemia 5
- p.Arg102Ter No assertion criteria Diamond-Blackfan anemia 5
- p.Val33Ile No assertion criteria Diamond-Blackfan anemia 5 ⚠
Likely pathogenic 4
- c.164+1G>A Single submitter Diamond-Blackfan anemia 5
- c.165-16_166del Single submitter Diamond-Blackfan anemia
- p.Cys47Phe Single submitter Diamond-Blackfan anemia 5
- p.Ile30Thr Single submitter Diamond-Blackfan anemia 5
Conflicting classifications of pathogenicity 4
- c.12-5C>G Single submitter Diamond-Blackfan anemia 5
- p.Leu28del Single submitter Diamond-Blackfan anemia 5
- p.Ser90= Single submitter Diamond-Blackfan anemia 5
- p.Tyr42Cys Single submitter Diamond-Blackfan anemia ⚠
Benign 6
- c.309+209C>A Multiple submitters
- c.310-66C>T Multiple submitters
- c.-32-141G>A Multiple submitters
- c.12-10del Single submitter Diamond-Blackfan anemia 5
- c.-32-3A>G Single submitter Diamond-Blackfan anemia 5
- c.*260C>T Single submitter
Benign/Likely benign 5
Likely benign 48
- c.11+17T>C Multiple submitters Diamond-Blackfan anemia 5
- c.309+199T>G Multiple submitters
- c.11+11T>C Single submitter Diamond-Blackfan anemia 5
- c.11+7G>A Single submitter Diamond-Blackfan anemia 5
- c.12-13T>A Single submitter Diamond-Blackfan anemia 5
- c.12-18G>A Single submitter Diamond-Blackfan anemia 5
- c.12-18G>T Single submitter Diamond-Blackfan anemia 5
- c.12-4T>G Single submitter Diamond-Blackfan anemia 5
- c.12-5C>T Single submitter Diamond-Blackfan anemia 5
- c.12-7G>T Single submitter Diamond-Blackfan anemia 5
- c.164+13C>T Single submitter Diamond-Blackfan anemia 5
- c.164+15C>G Single submitter Diamond-Blackfan anemia 5
- c.164+15C>T Single submitter Diamond-Blackfan anemia 5
- c.164+18G>A Single submitter Diamond-Blackfan anemia 5
- c.164+18G>T Single submitter Diamond-Blackfan anemia 5
- c.165-15C>G Single submitter Diamond-Blackfan anemia 5
- c.165-16C>A Single submitter Diamond-Blackfan anemia 5
- c.165-20C>T Single submitter Diamond-Blackfan anemia 5
- c.309+199del Single submitter
- c.309+7A>G Single submitter Diamond-Blackfan anemia 5
- c.310-20G>A Single submitter Diamond-Blackfan anemia 5
- c.310-20G>C Single submitter Diamond-Blackfan anemia 5
- c.310-48C>T Single submitter
- c.310-6del Single submitter Diamond-Blackfan anemia 5
- c.-33+16G>C Single submitter
- c.*135G>C Single submitter
- c.*21T>A Single submitter Diamond-Blackfan anemia 5
- p.Ala35= Single submitter Diamond-Blackfan anemia 5
- p.Ala53= Single submitter Diamond-Blackfan anemia 5
- p.Ala77= Single submitter Diamond-Blackfan anemia
- p.Ala86= Single submitter Diamond-Blackfan anemia 5
- p.Arg102= Single submitter Diamond-Blackfan anemia
- p.Arg109= Single submitter Diamond-Blackfan anemia 5
- p.Arg19= Single submitter Diamond-Blackfan anemia 5
- p.Arg68= Single submitter Diamond-Blackfan anemia 5
- p.Cys47= Single submitter Diamond-Blackfan anemia 5
- p.Gly61= Single submitter Diamond-Blackfan anemia 5
- p.Gly62= Single submitter Diamond-Blackfan anemia 5
- p.Gly62Cys Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ile30= Single submitter Diamond-Blackfan anemia 5
- p.Phe11= Single submitter Diamond-Blackfan anemia 5
- p.Phe41= Single submitter Diamond-Blackfan anemia 5
- p.Pro107= Single submitter Diamond-Blackfan anemia 5
- p.Pro93= Single submitter
- p.Ser108= Single submitter Diamond-Blackfan anemia 5
- p.Ter111= Single submitter Diamond-Blackfan anemia 5
- p.Thr25= Single submitter Diamond-Blackfan anemia 5
- p.Tyr49= Single submitter Diamond-Blackfan anemia 5
Uncertain significance 61
- c.309+3G>C Multiple submitters Diamond-Blackfan anemia 5
- c.309+4A>T Multiple submitters Diamond-Blackfan anemia 5
- p.Ala12Thr Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Ala12Val Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Arg19Trp Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Arg46= Multiple submitters Diamond-Blackfan anemia 5
- p.Arg76Gln Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Arg85Cys Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Arg85Gly Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Gly62Ser Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Ile10Val Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Ile70Thr Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Lys15Arg Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Tyr14Cys Multiple submitters Diamond-Blackfan anemia 5 ⚠
- p.Tyr14Phe Multiple submitters Diamond-Blackfan anemia 5 ⚠
- c.11+3A>G Single submitter Diamond-Blackfan anemia 5
- c.11+4C>T Single submitter Diamond-Blackfan anemia 5
- c.11+6C>A Single submitter Diamond-Blackfan anemia 5
- c.164+4A>C Single submitter Diamond-Blackfan anemia 5
- c.310-2A>C Single submitter Diamond-Blackfan anemia 5
- c.-31C>T Single submitter Diamond-Blackfan anemia 5
- c.-32-2A>T Single submitter Diamond-Blackfan anemia 5
- c.-33G>A Single submitter Diamond-Blackfan anemia 5
- c.-37T>G Single submitter Diamond-Blackfan anemia 5
- p.Ala26Thr Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ala26Val Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ala48Val Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ala53Gly Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Arg36Gln Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Arg68Gly Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Arg76Pro Single submitter Diamond-Blackfan anemia ⚠
- p.Asn20Ser Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Asn91Asp Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Asp37Asn Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Asp37Glu Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Cys47Trp Single submitter Diamond-Blackfan anemia ⚠
- p.Glu31Asp Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Glu38Gly Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Gly17Ala Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Gly32Val Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Gly44Ser Single submitter Diamond-Blackfan anemia 5 ⚠
- p.His99Tyr Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ile101Val Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ile97Val Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Lys29Glu Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Lys54Asn Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Lys66Gln Single submitter ⚠
- p.Pro107Leu Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Pro93Leu Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ser2Phe Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Ser90Asn Single submitter ⚠
- p.Thr67Ile Single submitter ⚠
- p.Thr75Ser Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Trp6Arg Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Tyr34Cys Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Tyr34Phe Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Tyr42Phe Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Tyr49Ser Single submitter Diamond-Blackfan anemia 5 ⚠
- p.Val103= Single submitter
- p.Val103Ala Single submitter Diamond-Blackfan anemia ⚠
- p.Val84Asp Single submitter Diamond-Blackfan anemia ⚠