Gene entry

TTN

titin

Chromosome: 2
Cytoband: 2q31.2
Variants (rsID): 867

TTN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q31.2). Its official name is “titin”. The reference table lists 867 variants (rsID) for this gene.

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Clinically classified variants

834 reference-table entries with clinical significance (first 200 shown).

rs10164753Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs10497520Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs113391261Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs114026724Benignsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs115070904Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy
rs116307796Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Cardiomyopathy
rs116567963Benignsingle nucleotide variantTibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs116592778Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Cardiovascular phenotype
rs116676813Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy
rs11694623Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Cardiomyopathy
rs11888217Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs11896779Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy
rs11904444Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs12471771Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy
rs12474306Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Cardiomyopathy
rs12476289Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs12614435Benignsingle nucleotide variant
rs12615797Benignsingle nucleotide variantTibial muscular dystrophy|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Cardiomyopathy
rs12621078Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs12693164Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs12693166Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs13021201Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs13390491Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs13398235Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs138192315Benignsingle nucleotide variantEarly-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs138787974Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs138846756Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs138968178Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Cardiovascular phenotype|Cardiomyopathy
rs140495148Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Cardiomyopathy
rs142317580Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Cardiomyopathy|Long QT syndrome|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs142812510Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Cardiomyopathy
rs144668626Benignsingle nucleotide variantCardiovascular phenotype|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs146590898Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G
rs146983095Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy
rs148434577Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs148551876Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs150223722Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs151253841Benignsingle nucleotide variantTibial muscular dystrophy|Hypertrophic cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated Cardiomyopathy, Dominant|Limb-Girdle Muscular Dystrophy, Recessive|Early-onset myopathy with fatal cardiomyopathy
rs1552280Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs16866378Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs16866380Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs16866465Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs16866475Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure
rs16866477Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy
rs16866531Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs16866538Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs17355446Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs17355460Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs182428755Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs184740744Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs185062935Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Cardiomyopathy
rs185921345Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs187925021Benignsingle nucleotide variantDilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs1883085Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs188584219Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy
rs189149543Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs190935632Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy
rs199859344Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs200847757Benignsingle nucleotide variantEarly-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs202017608Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs202102237Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs202125813Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs2042995Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2244492Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2278196Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs2288563Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2288570Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs2291310Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2291311Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs2303838Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs2306636Benignsingle nucleotide variantEarly-onset myopathy with fatal cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2562829Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2562832Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2627037Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs2627043Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2742332Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs2742347Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs33917087Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs34070843Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs34706803Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy
rs34819099Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G
rs35683768Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs35813871Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs36043230Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs36051007Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs368781863Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs370375696Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs373056460Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs3731745Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs3731752Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs3813243Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs3813245Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs3813246Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs3813247Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs3829747Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs3829749Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs397517550Benignsingle nucleotide variantMyopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs397517702Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy
rs4893852Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs4893853Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs4894028Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs55675869Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs55742743Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs55806007Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs55853696Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs55857742Benignsingle nucleotide variantCardiovascular phenotype|Primary dilated cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs55880440Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs55956577Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
rs55977045Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy
rs56018860Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs56026369Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Cardiomyopathy
rs56071233Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs56128843Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs56137037Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs56214710Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs56293906Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Cardiomyopathy
rs56324595Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs56324602Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Cardiomyopathy
rs56345408Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs56372592Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure
rs567800207Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs57389274Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs59887778Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy
rs62178963Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Cardiomyopathy
rs62621206Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs6433728Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs66677602Benignsingle nucleotide variant
rs66839174Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs67041405Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Cardiomyopathy
rs6723526Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs68080670Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs72646845Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Hypertrophic cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs72646850Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Cardiomyopathy|Hypertrophic cardiomyopathy|Congestive heart failure|Cardiomyopathy
rs72646869Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy
rs72646876Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs72647843Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs72647851Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G
rs72647875Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs72647876Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G
rs72647877Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy
rs72648257Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs72648258Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs72648929Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Cardiomyopathy|Long QT syndrome|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs72648939Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs72648946Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs72648951Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Cardiomyopathy
rs72648954Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs72648960Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs72648962Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs72648972Benignsingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy
rs72648976Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy|Long QT syndrome|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy
rs72648977Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy
rs72648979Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure
rs72648982Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G
rs72648984Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G
rs72648986Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs72648987Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy
rs72648998Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs72650010Benignsingle nucleotide variantTibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs72650028Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy
rs72650029Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Cardiomyopathy
rs72650032Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs72677221Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs72677222Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Cardiomyopathy
rs72677237Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy|Ventricular tachycardia
rs72955213Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs73038324Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs73973147Benignsingle nucleotide variantCardiovascular phenotype|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs744426Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs74580375Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs747122Benignsingle nucleotide variantCardiovascular phenotype|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs75686037Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Cardiovascular phenotype|Cardiomyopathy|Ventricular tachycardia|Cardiomyopathy
rs7585334Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs76081119Benignsingle nucleotide variantMyopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs76771282Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs76815324Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs78269740Benignsingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs78535378Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs79466278Benignsingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs922984Benignsingle nucleotide variant
rs9808036Benignsingle nucleotide variantCardiovascular phenotype|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs111671438Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Hypertrophic cardiomyopathy|Cardiomyopathy|Long QT syndrome|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy
rs111727915Conflicting interpretationssingle nucleotide variantMyopathy, myofibrillar, 9, with early respiratory failure|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiomyopathy
rs112266780Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G
rs114626713Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure
rs115119858Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Brugada syndrome|Cardiomyopathy
rs115744476Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy
rs115813214Conflicting interpretationssingle nucleotide variantTibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype
rs116572520Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Cardiomyopathy
rs117551279Conflicting interpretationssingle nucleotide variantCardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy
rs118079537Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs11900987Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Cardiomyopathy|Tibial muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Hypertrophic cardiomyopathy
rs138060032Conflicting interpretationssingle nucleotide variantMyopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Cardiovascular phenotype|Cardiomyopathy|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs138331646Conflicting interpretationssingle nucleotide variantMyopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Tibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs138560523Conflicting interpretationssingle nucleotide variantMyopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs138576504Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Early-onset myopathy with fatal cardiomyopathy|Tibial muscular dystrophy|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs138853909Conflicting interpretationssingle nucleotide variantTibial muscular dystrophy|Early-onset myopathy with fatal cardiomyopathy|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiomyopathy
rs139486133Conflicting interpretationssingle nucleotide variantToe walking
rs139790668Conflicting interpretationssingle nucleotide variantCardiomyopathy|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J
rs139992576Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1G|Autosomal recessive limb-girdle muscular dystrophy type 2J|Early-onset myopathy with fatal cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2J|Dilated cardiomyopathy 1G|Myopathy, myofibrillar, 9, with early respiratory failure|Tibial muscular dystrophy

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.