Sugi Variant

Sugi Variant/MYH3

MYH3 — 1910 ClinVar variants

All ClinVar germline MYH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 836 flagged for review →

54 Pathogenic · 8 Pathogenic/Likely pathogenic · 69 Likely pathogenic · 86 Conflicting · 110 Benign · 56 Benign/Likely benign · 588 Likely benign · 939 Uncertain significance

Full MYH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 836

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 26

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

Predictors lean, ClinVar uncertain 596

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 596

Predictors split 214

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 214

All MYH3 variants

Pathogenic 54

Pathogenic/Likely pathogenic 8

  • c.1581+1G>A Multiple submitters spondylocarpotarsal synostosis syndrome
  • c.-9+1G>A Multiple submitters contractures, pterygia, and variable skeletal fusions syndrome 1B
  • p.Arg1251Ter Multiple submitters Inborn genetic diseases
  • p.Arg926fs Multiple submitters MYH3-related disorder
  • p.Glu1509Ter Multiple submitters
  • p.Lys1110fs Multiple submitters
  • p.Lys1576fs Multiple submitters
  • p.Gln1371Ter Single submitter contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Likely pathogenic 69

Conflicting classifications of pathogenicity 86

Benign 110

Benign/Likely benign 56

Likely benign 588

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

Uncertain significance 939

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