Sugi Variant

Sugi Variant/SIX2

SIX2 — 117 ClinVar variants

All ClinVar germline SIX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

1 Likely pathogenic · 6 Benign · 3 Benign/Likely benign · 38 Likely benign · 69 Uncertain significance

Full SIX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 53

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

Predictors split 9

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

All SIX2 variants

Likely pathogenic 1

Benign 6

Benign/Likely benign 3

Likely benign 38

Uncertain significance 69