Sugi Variant

Sugi Variant/FRMD7

FRMD7 — 534 ClinVar variants

All ClinVar germline FRMD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 265 flagged for review →

41 Pathogenic · 5 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 38 Conflicting · 27 Benign · 26 Benign/Likely benign · 97 Likely benign · 275 Uncertain significance

Full FRMD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 265

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 2

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

Predictors agree, ClinVar conflicts 31

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

Predictors lean, ClinVar uncertain 200

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 200

Predictors split 32

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

All FRMD7 variants

Pathogenic 41

Pathogenic/Likely pathogenic 5

  • p.Ala194Thr Multiple submitters nystagmus 1, congenital, X-linked
  • p.Arg261Gln Multiple submitters nystagmus 1, congenital, X-linked
  • p.Gln544fs Multiple submitters FRMD7-related disorders
  • p.Leu142Arg Multiple submitters FRMD7-related disorders
  • p.Met457fs Multiple submitters

Likely pathogenic 25

Conflicting classifications of pathogenicity 38

Benign 27

Benign/Likely benign 26

Likely benign 97

Uncertain significance 275