Sugi Variant

Sugi Variant/RPL26

RPL26 — 93 ClinVar variants

All ClinVar germline RPL26 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 7 Benign · 5 Benign/Likely benign · 37 Likely benign · 38 Uncertain significance

Full RPL26 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 33

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 15

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 18

The independent predictors disagree with each other — read with care.

All RPL26 variants

Pathogenic 3

  • p.Lys41fs Single submitter Diamond-Blackfan anemia 11
  • p.Met30fs Single submitter Diamond-Blackfan anemia 11
  • p.Asp114fs No assertion criteria Diamond-Blackfan anemia 11

Likely pathogenic 3

  • c.-5-2A>G Multiple submitters Diamond-Blackfan anemia 11
  • c.-6+3_-6+25del Single submitter Diamond-Blackfan anemia 11
  • p.Ser12fs Single submitter Diamond-Blackfan anemia 11

Benign 7

Benign/Likely benign 5

  • c.168+17G>A Multiple submitters Diamond-Blackfan anemia 11
  • c.310-16dup Multiple submitters Diamond-Blackfan anemia
  • c.-5-16_-5-15del Multiple submitters Diamond-Blackfan anemia 11
  • p.Leu109= Multiple submitters Diamond-Blackfan anemia 11
  • p.Ser32= Multiple submitters Diamond-Blackfan anemia 11

Likely benign 37

  • c.168+188A>T Multiple submitters
  • p.Asn43Ser Multiple submitters Diamond-Blackfan anemia ⚠
  • p.Asp114= Multiple submitters Diamond-Blackfan anemia
  • p.His100= Multiple submitters Diamond-Blackfan anemia
  • p.His24= Multiple submitters Diamond-Blackfan anemia
  • p.His96= Multiple submitters Diamond-Blackfan anemia
  • p.Lys89= Multiple submitters Diamond-Blackfan anemia 11
  • p.Val85= Multiple submitters Diamond-Blackfan anemia
  • c.168+11C>G Single submitter Diamond-Blackfan anemia
  • c.168+15T>G Single submitter Diamond-Blackfan anemia
  • c.168+18T>G Single submitter Diamond-Blackfan anemia
  • c.168+261A>G Single submitter
  • c.168+9C>G Single submitter
  • c.169-19C>T Single submitter Diamond-Blackfan anemia
  • c.169-5C>G Single submitter Diamond-Blackfan anemia
  • c.309+13G>T Single submitter Diamond-Blackfan anemia
  • c.309+18T>C Single submitter Diamond-Blackfan anemia
  • c.309+7G>T Single submitter Diamond-Blackfan anemia
  • c.-5-164C>T Single submitter
  • c.-5-204A>G Single submitter
  • c.*11T>C Single submitter
  • p.Ala123= Single submitter Diamond-Blackfan anemia
  • p.Arg15= Single submitter Diamond-Blackfan anemia
  • p.Gly60= Single submitter Diamond-Blackfan anemia
  • p.Gly92= Single submitter Diamond-Blackfan anemia
  • p.Leu119= Single submitter Diamond-Blackfan anemia
  • p.Lys136= Single submitter Diamond-Blackfan anemia
  • p.Lys142= Single submitter Diamond-Blackfan anemia
  • p.Lys51= Single submitter Diamond-Blackfan anemia
  • p.Phe3= Single submitter Diamond-Blackfan anemia
  • p.Pro5= Single submitter Diamond-Blackfan anemia
  • p.Ser35= Single submitter Diamond-Blackfan anemia
  • p.Thr8= Single submitter Diamond-Blackfan anemia
  • p.Tyr78= Single submitter Diamond-Blackfan anemia
  • p.Tyr81= Single submitter Diamond-Blackfan anemia
  • p.Val128= Single submitter Diamond-Blackfan anemia
  • p.Val70= Single submitter Diamond-Blackfan anemia

Uncertain significance 38