Sugi Variant

Sugi Variant/NPHP4

NPHP4 — 1964 ClinVar variants

All ClinVar germline NPHP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 870 flagged for review →

61 Pathogenic · 32 Pathogenic/Likely pathogenic · 80 Likely pathogenic · 194 Conflicting · 75 Benign · 38 Benign/Likely benign · 551 Likely benign · 933 Uncertain significance

Full NPHP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 870

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 72

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

Predictors lean, ClinVar uncertain 636

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 636

Predictors split 162

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 162

All NPHP4 variants

Pathogenic 61

Pathogenic/Likely pathogenic 32

Likely pathogenic 80

Conflicting classifications of pathogenicity 194

Benign 75

Benign/Likely benign 38

Likely benign 551

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

Uncertain significance 933

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