Sugi Variant

Sugi Variant/DIP2B

DIP2B — 253 ClinVar variants

All ClinVar germline DIP2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →

2 Likely pathogenic · 3 Conflicting · 14 Benign · 2 Benign/Likely benign · 26 Likely benign · 206 Uncertain significance

Full DIP2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 200

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 2

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 119

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

Predictors split 77

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

All DIP2B variants

Likely pathogenic 2

Conflicting classifications of pathogenicity 3

Benign 14

Benign/Likely benign 2

Likely benign 26

Uncertain significance 206