Sugi Variant

Sugi Variant/NTRK2

NTRK2 — 815 ClinVar variants

All ClinVar germline NTRK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 340 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 24 Conflicting · 37 Benign · 13 Benign/Likely benign · 337 Likely benign · 390 Uncertain significance

Full NTRK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 340

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 246

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 246

Predictors split 76

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

All NTRK2 variants

Pathogenic 6

  • p.Ala107fs Single submitter
  • p.Leu58Ter Single submitter
  • p.Gly444Ter No assertion criteria obesity, hyperphagia, and developmental delay
  • p.Leu324fs No assertion criteria
  • p.Thr720Ile No assertion criteria obesity, hyperphagia, and developmental delay
  • p.Tyr722Cys No assertion criteria obesity, hyperphagia, and developmental delay

Pathogenic/Likely pathogenic 1

Likely pathogenic 7

Conflicting classifications of pathogenicity 24

Benign 37

Benign/Likely benign 13

Likely benign 337

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 390

Showing the top 300 by review status; the full set is in the sitemap.