Sugi Variant

Sugi Variant/ANKRD17

ANKRD17 — 537 ClinVar variants

All ClinVar germline ANKRD17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 420 flagged for review →

19 Pathogenic · 1 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 3 Conflicting · 8 Benign · 55 Likely benign · 424 Uncertain significance

Full ANKRD17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 420

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 4

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 275

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 275

Predictors split 138

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

All ANKRD17 variants

Pathogenic 19

Pathogenic/Likely pathogenic 1

  • p.Cys1091fs Multiple submitters Chopra-Amiel-Gordon syndrome

Likely pathogenic 27

Conflicting classifications of pathogenicity 3

Benign 8

Likely benign 55

Uncertain significance 424

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