Sugi Variant

Sugi Variant/DZIP1L

DZIP1L — 316 ClinVar variants

All ClinVar germline DZIP1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 7 Conflicting · 29 Benign · 12 Benign/Likely benign · 89 Likely benign · 162 Uncertain significance

Full DZIP1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 159

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.

Predictors lean, ClinVar uncertain 124

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

Predictors split 30

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

All DZIP1L variants

Pathogenic 9

Pathogenic/Likely pathogenic 1

Likely pathogenic 7

Conflicting classifications of pathogenicity 7

Benign 29

Benign/Likely benign 12

Likely benign 89

Uncertain significance 162