Sugi Variant

Sugi Variant/DIP2C

DIP2C — 1004 ClinVar variants

All ClinVar germline DIP2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 379 flagged for review →

11 Pathogenic · 8 Likely pathogenic · 11 Conflicting · 70 Benign · 4 Benign/Likely benign · 495 Likely benign · 405 Uncertain significance

Full DIP2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 379

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 agree, ClinVar conflicts 5

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 140

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

All DIP2C variants

Pathogenic 11

Likely pathogenic 8

Conflicting classifications of pathogenicity 11

Benign 70

Benign/Likely benign 4

Likely benign 495

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

Uncertain significance 405

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