Sugi Variant

Sugi Variant/TMEM67

TMEM67 — 1395 ClinVar variants

All ClinVar germline TMEM67 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 490 flagged for review →

104 Pathogenic · 46 Pathogenic/Likely pathogenic · 94 Likely pathogenic · 74 Conflicting · 48 Benign · 18 Benign/Likely benign · 504 Likely benign · 507 Uncertain significance

Full TMEM67 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 490

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 21

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

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 307

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 307

Predictors split 134

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

All TMEM67 variants

Pathogenic 104

Pathogenic/Likely pathogenic 46

Likely pathogenic 94

Conflicting classifications of pathogenicity 74

Benign 48

Benign/Likely benign 18

Likely benign 504

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

Uncertain significance 507

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