Sugi Variant

Sugi Variant/MYL2

MYL2 — 485 ClinVar variants

All ClinVar germline MYL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →

1 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 38 Conflicting · 32 Benign · 11 Benign/Likely benign · 143 Likely benign · 246 Uncertain significance

Full MYL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 188

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 1

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

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 132

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

Predictors split 42

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

All MYL2 variants

Pathogenic 1

Pathogenic/Likely pathogenic 4

Likely pathogenic 10

  • p.Gly162Glu Expert panel hypertrophic cardiomyopathy ⚠
  • p.Arg58Leu Multiple submitters hypertrophic cardiomyopathy 10
  • p.Ala55Pro Single submitter hypertrophic cardiomyopathy 10
  • p.Asn47fs Single submitter familial hypertrophic cardiomyopathy
  • p.Asp166Tyr Single submitter
  • p.Glu164fs Single submitter cardiomyopathy
  • p.Glu65Ter Single submitter cardiomyopathy
  • p.Gly162del Single submitter hypertrophic cardiomyopathy
  • p.Ter167Gln Single submitter congenital fiber-type disproportion myopathy
  • p.His161Arg No assertion criteria hypertrophic cardiomyopathy ⚠

Conflicting classifications of pathogenicity 38

  • c.274+9G>A Single submitter cardiomyopathy
  • c.275-12G>A Single submitter hypertrophic cardiomyopathy 10
  • c.275-14G>C Single submitter hypertrophic cardiomyopathy 10
  • c.402+6G>C Single submitter cardiomyopathy
  • c.402+8G>T Single submitter hypertrophic cardiomyopathy 10
  • c.403-1G>A Single submitter cardiomyopathy
  • c.403-1G>C Single submitter myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
  • c.403-1G>T Single submitter cardiomyopathy
  • c.403-6T>C Single submitter hypertrophic cardiomyopathy 10
  • c.94-3C>T Single submitter cardiomyopathy
  • c.*102C>A Single submitter hypertrophic cardiomyopathy 10
  • c.*10C>T Single submitter hypertrophic cardiomyopathy 10
  • p.Ala140Thr Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Ala141Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala55Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ala93Glu Single submitter cardiomyopathy ⚠
  • p.Arg120Gln Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Arg40Lys Single submitter Cardiovascular phenotype
  • p.Arg40Met Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Asn47Lys Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Asn63fs Single submitter myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
  • p.Gln126Ter Single submitter hypertrophic cardiomyopathy 10
  • p.Glu134Ala Single submitter myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy ⚠
  • p.Glu163Ala Single submitter hypertrophic cardiomyopathy 10
  • p.Glu163Gly Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Glu65Lys Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Gly42Asp Single submitter Cardiovascular phenotype ⚠
  • p.Gly87Ala Single submitter Cardiovascular phenotype ⚠
  • p.Gly87Glu Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Ile35Val Single submitter Cardiovascular phenotype ⚠
  • p.Leu100Val Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Lys62Ter Single submitter cardiomyopathy
  • p.Phe103Cys Single submitter Cardiovascular phenotype ⚠
  • p.Phe86Leu Single submitter hypertrophic cardiomyopathy 10 ⚠
  • p.Pro144fs Single submitter Cardiovascular phenotype
  • p.Thr125Met Single submitter Cardiovascular phenotype ⚠
  • p.Tyr118= Single submitter cardiomyopathy
  • p.Val119Ile Single submitter Cardiovascular phenotype ⚠

Benign 32

Benign/Likely benign 11

  • c.170-19T>C Multiple submitters cardiomyopathy
  • c.274+16_274+17insTC Multiple submitters hypertrophic cardiomyopathy 10
  • c.274+9GT[10] Multiple submitters cardiomyopathy
  • c.275-7G>A Multiple submitters cardiomyopathy
  • c.353+12C>A Multiple submitters hypertrophic cardiomyopathy 10
  • c.353+16G>A Multiple submitters hypertrophic cardiomyopathy 10
  • c.354-18G>A Multiple submitters hypertrophic cardiomyopathy 10
  • p.Ala93= Multiple submitters Cardiovascular phenotype
  • p.Leu114= Multiple submitters Cardiovascular phenotype
  • p.Tyr152= Multiple submitters Cardiovascular phenotype
  • p.Val81= Multiple submitters Cardiovascular phenotype

Likely benign 143

  • c.170-14G>C Multiple submitters cardiomyopathy
  • c.170-153A>G Multiple submitters
  • c.170-20GT[3] Multiple submitters hypertrophic cardiomyopathy 10
  • c.170-4C>T Multiple submitters cardiomyopathy
  • c.274+7T>C Multiple submitters hypertrophic cardiomyopathy 10
  • c.274+8C>T Multiple submitters hypertrophic cardiomyopathy 10
  • c.275-76A>C Multiple submitters
  • c.275-8C>T Multiple submitters cardiomyopathy
  • c.353+51C>A Multiple submitters
  • c.354-6C>G Multiple submitters hypertrophic cardiomyopathy 10
  • c.354-6C>T Multiple submitters hypertrophic cardiomyopathy 10
  • c.354-7del Multiple submitters hypertrophic cardiomyopathy 10
  • c.354-7T>C Multiple submitters hypertrophic cardiomyopathy
  • c.354-8C>G Multiple submitters cardiomyopathy
  • c.402+17A>G Multiple submitters hypertrophic cardiomyopathy 10
  • c.402+93C>T Multiple submitters
  • c.403-11G>A Multiple submitters hypertrophic cardiomyopathy 10
  • c.403-15G>C Multiple submitters cardiomyopathy
  • c.403-4G>C Multiple submitters hypertrophic cardiomyopathy 10
  • c.403-8C>T Multiple submitters hypertrophic cardiomyopathy 10
  • c.94-10C>T Multiple submitters cardiomyopathy
  • c.94-169C>G Multiple submitters
  • c.94-9C>T Multiple submitters hypertrophic cardiomyopathy 10
  • p.Ala140= Multiple submitters cardiomyopathy
  • p.Arg129= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Arg58= Multiple submitters Cardiovascular phenotype
  • p.Asn101= Multiple submitters hypertrophic cardiomyopathy
  • p.Asn149= Multiple submitters Cardiovascular phenotype
  • p.Asn47= Multiple submitters Cardiovascular phenotype
  • p.Asp117= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Asp136= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Asp145= Multiple submitters Cardiovascular phenotype
  • p.Asp37= Multiple submitters cardiomyopathy
  • p.Asp41= Multiple submitters cardiomyopathy
  • p.Asp45= Multiple submitters cardiomyopathy
  • p.Glu128= Multiple submitters Cardiovascular phenotype
  • p.Glu72= Multiple submitters Cardiovascular phenotype
  • p.Glu88= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Gly148= Multiple submitters Cardiovascular phenotype
  • p.Gly162= Multiple submitters hypertrophic cardiomyopathy 10
  • p.His161= Multiple submitters cardiomyopathy
  • p.Ile158= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Ile66= Multiple submitters hypertrophic cardiomyopathy
  • p.Leu150= Multiple submitters cardiomyopathy
  • p.Leu155= Multiple submitters Cardiovascular phenotype
  • p.Leu49= Multiple submitters cardiomyopathy
  • p.Leu83= Multiple submitters Cardiovascular phenotype
  • p.Lys46= Multiple submitters Cardiovascular phenotype
  • p.Phe139= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Phe142= Multiple submitters cardiomyopathy
  • p.Phe79= Multiple submitters
  • p.Pro143= Multiple submitters Cardiovascular phenotype
  • p.Pro74= Multiple submitters hypertrophic cardiomyopathy
  • p.Pro95= Multiple submitters cardiomyopathy
  • p.Ser131= Multiple submitters cardiomyopathy
  • p.Thr124= Multiple submitters Cardiovascular phenotype
  • p.Thr125= Multiple submitters Cardiovascular phenotype
  • p.Thr160= Multiple submitters cardiomyopathy
  • p.Thr52= Multiple submitters cardiomyopathy
  • p.Thr98= Multiple submitters cardiomyopathy
  • p.Val105= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Val156= Multiple submitters hypertrophic cardiomyopathy 10
  • p.Val61= Multiple submitters Cardiovascular phenotype
  • c.169+13C>T Single submitter hypertrophic cardiomyopathy 10
  • c.169+18G>C Single submitter hypertrophic cardiomyopathy 10
  • c.169+19C>T Single submitter hypertrophic cardiomyopathy 10
  • c.169+7C>T Single submitter hypertrophic cardiomyopathy 10
  • c.170-17T>C Single submitter hypertrophic cardiomyopathy 10
  • c.170-20G>A Single submitter hypertrophic cardiomyopathy 10
  • c.170-3T>C Single submitter hypertrophic cardiomyopathy
  • c.170-8T>C Single submitter cardiomyopathy
  • c.274+11_274+12insGC Single submitter hypertrophic cardiomyopathy 10
  • c.274+13G>A Single submitter hypertrophic cardiomyopathy 10
  • c.274+18T>A Single submitter hypertrophic cardiomyopathy 10
  • c.274+20T>C Single submitter hypertrophic cardiomyopathy 10
  • c.274+339C>T Single submitter
  • c.274+9G>C Single submitter hypertrophic cardiomyopathy 10
  • c.274+9GT[4] Single submitter hypertrophic cardiomyopathy 10
  • c.275-14G>T Single submitter hypertrophic cardiomyopathy 10
  • c.275-15T>C Single submitter hypertrophic cardiomyopathy 10
  • c.275-16C>G Single submitter hypertrophic cardiomyopathy 10
  • c.275-18C>T Single submitter hypertrophic cardiomyopathy 10
  • c.275-19G>A Single submitter hypertrophic cardiomyopathy 10
  • c.275-19G>T Single submitter hypertrophic cardiomyopathy 10
  • c.353+12C>T Single submitter hypertrophic cardiomyopathy 10
  • c.353+14G>C Single submitter hypertrophic cardiomyopathy 10
  • c.353+16G>T Single submitter hypertrophic cardiomyopathy 10
  • c.353+19G>A Single submitter hypertrophic cardiomyopathy 10
  • c.353+21A>C Single submitter hypertrophic cardiomyopathy 10
  • c.353+33C>G Single submitter familial hypertrophic cardiomyopathy
  • c.353+7G>A Single submitter hypertrophic cardiomyopathy 10
  • c.353+9G>A Single submitter hypertrophic cardiomyopathy 10
  • c.354-11T>C Single submitter hypertrophic cardiomyopathy 10
  • c.354-17C>G Single submitter hypertrophic cardiomyopathy 10
  • c.354-17C>T Single submitter hypertrophic cardiomyopathy 10
  • c.354-20C>G Single submitter hypertrophic cardiomyopathy 10
  • c.354-4G>A Single submitter hypertrophic cardiomyopathy 10
  • c.354-6C>A Single submitter hypertrophic cardiomyopathy 10
  • c.354-8C>A Single submitter hypertrophic cardiomyopathy 10
  • c.354-8C>T Single submitter hypertrophic cardiomyopathy 10
  • c.402+10T>A Single submitter hypertrophic cardiomyopathy 10
  • c.402+10T>C Single submitter hypertrophic cardiomyopathy 10
  • c.402+19C>T Single submitter hypertrophic cardiomyopathy 10
  • c.402+20A>C Single submitter hypertrophic cardiomyopathy 10
  • c.402+5T>A Single submitter hypertrophic cardiomyopathy
  • c.402+7G>C Single submitter hypertrophic cardiomyopathy 10
  • c.402+9G>A Single submitter hypertrophic cardiomyopathy 10
  • c.403-16T>C Single submitter hypertrophic cardiomyopathy 10
  • c.403-16T>G Single submitter hypertrophic cardiomyopathy 10
  • c.403-17T>C Single submitter hypertrophic cardiomyopathy 10
  • c.403-18G>A Single submitter hypertrophic cardiomyopathy 10
  • c.403-20G>A Single submitter hypertrophic cardiomyopathy 10
  • c.403-7A>C Single submitter hypertrophic cardiomyopathy 10
  • c.403-9T>C Single submitter hypertrophic cardiomyopathy 10
  • c.94-14C>T Single submitter hypertrophic cardiomyopathy 10
  • c.94-15A>C Single submitter hypertrophic cardiomyopathy 10
  • c.94-16C>G Single submitter hypertrophic cardiomyopathy 10
  • c.94-17T>C Single submitter hypertrophic cardiomyopathy 10
  • c.94-19A>G Single submitter hypertrophic cardiomyopathy 10
  • c.*18C>T Single submitter
  • c.*9T>C Single submitter
  • p.Ala102= Single submitter hypertrophic cardiomyopathy
  • p.Ala127= Single submitter hypertrophic cardiomyopathy
  • p.Ala32= Single submitter
  • p.Ala73= Single submitter cardiomyopathy
  • p.Arg40= Single submitter hypertrophic cardiomyopathy 10
  • p.Asn60= Single submitter Cardiovascular phenotype
  • p.Asn63= Single submitter hypertrophic cardiomyopathy 10
  • p.Asp48= Single submitter Cardiovascular phenotype
  • p.Gly110= Single submitter hypertrophic cardiomyopathy 10
  • p.Gly42= Single submitter Cardiovascular phenotype
  • p.Gly87= Single submitter hypertrophic cardiomyopathy
  • p.Gly92= Single submitter hypertrophic cardiomyopathy
  • p.Leu100= Single submitter hypertrophic cardiomyopathy 10
  • p.Leu123= Single submitter hypertrophic cardiomyopathy 10
  • p.Leu56= Single submitter cardiomyopathy
  • p.Lys165= Single submitter cardiomyopathy
  • p.Lys89= Single submitter hypertrophic cardiomyopathy 10
  • p.Phe33= Single submitter hypertrophic cardiomyopathy 10
  • p.Pro108= Single submitter
  • p.Ter167= Single submitter hypertrophic cardiomyopathy 10
  • p.Thr34= Single submitter hypertrophic cardiomyopathy 10
  • p.Val146= Single submitter Cardiovascular phenotype

Uncertain significance 246