Sugi Variant

Sugi Variant/DPY19L2

DPY19L2 — 118 ClinVar variants

All ClinVar germline DPY19L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 3 Benign · 14 Likely benign · 94 Uncertain significance

Full DPY19L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 76

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

Predictors split 9

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

All DPY19L2 variants

Pathogenic 6

  • p.Arg290His Single submitter DPY19L2-related disorders
  • p.Lys680Ter Single submitter spermatogenic failure 9
  • c.1218+1G>A No assertion criteria spermatogenic failure 9
  • p.Arg298Cys No assertion criteria spermatogenic failure 9
  • p.Arg298His No assertion criteria spermatogenic failure 9
  • p.Ser395fs No assertion criteria spermatogenic failure 9

Likely pathogenic 1

Benign 3

Likely benign 14

Uncertain significance 94