Sugi Variant

Sugi Variant/NSD1

NSD1 — 2682 ClinVar variants

All ClinVar germline NSD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1051 flagged for review →

430 Pathogenic · 41 Pathogenic/Likely pathogenic · 208 Likely pathogenic · 228 Conflicting · 109 Benign · 99 Benign/Likely benign · 584 Likely benign · 983 Uncertain significance

Full NSD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1051

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 164

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 164

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 718

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 718

Predictors split 166

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 166

All NSD1 variants

Pathogenic 430

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

Pathogenic/Likely pathogenic 41

Likely pathogenic 208

Conflicting classifications of pathogenicity 228

Benign 109

Benign/Likely benign 99

Likely benign 584

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

Uncertain significance 983

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