Sugi Variant

Sugi Variant/NSD2

NSD2 — 743 ClinVar variants

All ClinVar germline NSD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 313 flagged for review →

42 Pathogenic · 3 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 29 Conflicting · 31 Benign · 22 Benign/Likely benign · 241 Likely benign · 328 Uncertain significance

Full NSD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 313

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 1

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

Predictors agree, ClinVar conflicts 25

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

Predicted LoF vs a conflicting call 1

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 233

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 233

Predictors split 53

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

All NSD2 variants

Pathogenic 42

Pathogenic/Likely pathogenic 3

Likely pathogenic 47

Conflicting classifications of pathogenicity 29

Benign 31

Benign/Likely benign 22

Likely benign 241

Uncertain significance 328

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