Sugi Variant

Sugi Variant/UNC79

UNC79 — 411 ClinVar variants

All ClinVar germline UNC79 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →

9 Pathogenic · 9 Likely pathogenic · 2 Conflicting · 4 Benign · 44 Likely benign · 343 Uncertain significance

Full UNC79 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, 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.

All UNC79 variants

Pathogenic 9

Likely pathogenic 9

Conflicting classifications of pathogenicity 2

Benign 4

Likely benign 44

Uncertain significance 343

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