Sugi Variant

Sugi Variant/DLK1

DLK1 — 89 ClinVar variants

All ClinVar germline DLK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

1 Likely pathogenic · 12 Benign · 1 Benign/Likely benign · 19 Likely benign · 56 Uncertain significance

Full DLK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 51

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 40

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

Predictors split 11

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

All DLK1 variants

Likely pathogenic 1

  • p.Tyr119Ter No assertion criteria central precocious puberty

Benign 12

Benign/Likely benign 1

Likely benign 19

Uncertain significance 56