Sugi Variant

Sugi Variant/FAT4

FAT4 — 3509 ClinVar variants

All ClinVar germline FAT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1232 flagged for review →

45 Pathogenic · 5 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 140 Conflicting · 96 Benign · 57 Benign/Likely benign · 1184 Likely benign · 1960 Uncertain significance

Full FAT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1232

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 82

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

Predictors lean, ClinVar uncertain 1097

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 1097

Predictors split 53

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

All FAT4 variants

Pathogenic 45

Pathogenic/Likely pathogenic 5

  • p.Arg1902Ter Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 2
  • p.Arg2234Ter Multiple submitters van Maldergem syndrome
  • p.Gln4530Ter Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 2
  • p.Glu2502Ter Multiple submitters Autosomal recessive FAT4-related disorders
  • p.Thr2557fs Multiple submitters FAT4-related disorder

Likely pathogenic 22

Conflicting classifications of pathogenicity 140

Benign 96

Benign/Likely benign 57

Likely benign 1184

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

Uncertain significance 1960

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