Sugi Variant

Sugi Variant/MYOZ2

MYOZ2 — 300 ClinVar variants

All ClinVar germline MYOZ2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

1 Likely pathogenic · 15 Conflicting · 23 Benign · 8 Benign/Likely benign · 73 Likely benign · 180 Uncertain significance

Full MYOZ2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 8

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

Predictors lean, ClinVar uncertain 117

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

Predictors split 30

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

All MYOZ2 variants

Likely pathogenic 1

  • p.Ser48Pro Single submitter hypertrophic cardiomyopathy 16

Conflicting classifications of pathogenicity 15

Benign 23

Benign/Likely benign 8

  • c.76+20G>A Multiple submitters hypertrophic cardiomyopathy 16
  • c.77-5dup Multiple submitters Cardiovascular phenotype
  • c.-15+11dup Multiple submitters hypertrophic cardiomyopathy 16
  • p.Asn82Thr Multiple submitters cardiomyopathy
  • p.Gln10Pro Multiple submitters cardiomyopathy ⚠
  • p.Gln13= Multiple submitters Cardiovascular phenotype
  • p.Gln76= Multiple submitters Cardiovascular phenotype
  • p.Ile246Met Multiple submitters hypertrophic cardiomyopathy

Likely benign 73

  • c.560+9A>G Multiple submitters hypertrophic cardiomyopathy
  • c.561-13T>A Multiple submitters hypertrophic cardiomyopathy
  • c.76+10A>G Multiple submitters hypertrophic cardiomyopathy
  • c.76+8T>C Multiple submitters hypertrophic cardiomyopathy
  • c.*83A>G Multiple submitters
  • p.Asn110= Multiple submitters hypertrophic cardiomyopathy
  • p.Asp28= Multiple submitters Cardiovascular phenotype
  • p.Asp41= Multiple submitters Cardiovascular phenotype
  • p.Gln103= Multiple submitters hypertrophic cardiomyopathy
  • p.Gln149= Multiple submitters hypertrophic cardiomyopathy
  • p.Gln74= Multiple submitters Cardiovascular phenotype
  • p.Ile123= Multiple submitters Cardiovascular phenotype
  • p.Leu131= Multiple submitters Cardiovascular phenotype
  • p.Leu264= Multiple submitters Cardiovascular phenotype
  • p.Leu50= Multiple submitters Cardiovascular phenotype
  • p.Pro160= Multiple submitters Cardiovascular phenotype
  • p.Pro168= Multiple submitters Cardiovascular phenotype
  • p.Pro173= Multiple submitters hypertrophic cardiomyopathy
  • p.Ser101= Multiple submitters hypertrophic cardiomyopathy
  • p.Thr111= Multiple submitters Cardiovascular phenotype
  • p.Thr141= Multiple submitters Cardiovascular phenotype
  • p.Thr256= Multiple submitters Cardiovascular phenotype
  • p.Thr69= Multiple submitters Cardiovascular phenotype
  • p.Val258= Multiple submitters Cardiovascular phenotype
  • c.246+16A>G Single submitter hypertrophic cardiomyopathy
  • c.246+209C>G Single submitter
  • c.377-14A>G Single submitter hypertrophic cardiomyopathy
  • c.377-15T>C Single submitter hypertrophic cardiomyopathy
  • c.377-5C>T Single submitter hypertrophic cardiomyopathy 16
  • c.560+14C>T Single submitter hypertrophic cardiomyopathy
  • c.561-14_561-13dup Single submitter
  • c.561-20T>C Single submitter hypertrophic cardiomyopathy
  • c.561-6C>T Single submitter hypertrophic cardiomyopathy
  • c.561-7C>T Single submitter hypertrophic cardiomyopathy
  • c.76+178C>G Single submitter
  • c.77-18A>G Single submitter hypertrophic cardiomyopathy
  • c.77-9G>A Single submitter hypertrophic cardiomyopathy
  • c.-14-20T>C Single submitter
  • c.-14-258C>A Single submitter
  • c.-41G>A Single submitter
  • c.-87A>G Single submitter
  • p.Ala177= Single submitter Cardiovascular phenotype
  • p.Ala177Ser Single submitter Cardiovascular phenotype
  • p.Arg115= Single submitter hypertrophic cardiomyopathy
  • p.Arg40= Single submitter hypertrophic cardiomyopathy
  • p.Arg53= Single submitter hypertrophic cardiomyopathy
  • p.Arg56= Single submitter Cardiovascular phenotype
  • p.Arg61= Single submitter Cardiovascular phenotype
  • p.Arg64= Single submitter
  • p.Arg78Lys Single submitter Cardiovascular phenotype
  • p.Asn158= Single submitter Cardiovascular phenotype
  • p.Glu196= Single submitter Cardiovascular phenotype
  • p.Gly228= Single submitter hypertrophic cardiomyopathy
  • p.Gly33= Single submitter Cardiovascular phenotype
  • p.Ile42= Single submitter hypertrophic cardiomyopathy
  • p.Leu166= Single submitter Cardiovascular phenotype
  • p.Leu2= Single submitter Cardiovascular phenotype
  • p.Leu57= Single submitter Cardiovascular phenotype
  • p.Leu97= Single submitter Cardiovascular phenotype
  • p.Phe219= Single submitter Cardiovascular phenotype
  • p.Pro130= Single submitter Cardiovascular phenotype
  • p.Ser184= Single submitter hypertrophic cardiomyopathy
  • p.Ser231= Single submitter Cardiovascular phenotype
  • p.Ser51= Single submitter Cardiovascular phenotype
  • p.Ser84= Single submitter hypertrophic cardiomyopathy
  • p.Thr235= Single submitter hypertrophic cardiomyopathy
  • p.Thr249= Single submitter Cardiovascular phenotype
  • p.Tyr147= Single submitter hypertrophic cardiomyopathy
  • p.Tyr182= Single submitter hypertrophic cardiomyopathy
  • p.Tyr68= Single submitter Cardiovascular phenotype
  • p.Val223= Single submitter Cardiovascular phenotype
  • p.Val27= Single submitter Cardiovascular phenotype
  • p.Glu137= No assertion criteria MYOZ2-related disorder

Uncertain significance 180