Sugi Variant

Sugi Variant/AK7

AK7 — 435 ClinVar variants

All ClinVar germline AK7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →

1 Likely pathogenic · 5 Conflicting · 25 Benign · 2 Benign/Likely benign · 172 Likely benign · 230 Uncertain significance

Full AK7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 189

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 4

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

Predictors lean, ClinVar uncertain 133

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

Predictors split 52

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

All AK7 variants

Likely pathogenic 1

  • c.690+1G>T Single submitter spermatogenic failure 27

Conflicting classifications of pathogenicity 5

Benign 25

Benign/Likely benign 2

Likely benign 172

Uncertain significance 230