ARMS2 — 36 ClinVar variants

All ClinVar germline ARMS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →

4 Benign · 5 Benign/Likely benign · 6 Likely benign · 21 Uncertain significance

Full ARMS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 15

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 split 3

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

All ARMS2 variants

Benign 4

  • p.Ala69Ser Multiple submitters age related macular degeneration 8
  • p.Arg38Ter Multiple submitters age related macular degeneration 8
  • p.Arg3His Multiple submitters age related macular degeneration 8
  • c.*374G>T Single submitter age related macular degeneration 8

Benign/Likely benign 5

  • c.298-13A>G Multiple submitters age related macular degeneration 8
  • c.298-13A>T Multiple submitters age related macular degeneration 8
  • c.*373T>G Multiple submitters age related macular degeneration 8
  • c.*376T>C Multiple submitters age related macular degeneration 8
  • c.*385A>C Multiple submitters age related macular degeneration 8

Likely benign 6

  • c.*107T>G Multiple submitters age related macular degeneration 8
  • c.*45T>G Multiple submitters age related macular degeneration 8
  • p.Pro83fs Multiple submitters
  • c.-9G>A Single submitter age related macular degeneration 8
  • c.*161C>T Single submitter age related macular degeneration 8
  • c.*204C>A Single submitter age related macular degeneration 8

Uncertain significance 21