ClinVar Miner

List of variants reported as likely pathogenic for TTN-related myopathy by Baylor Genetics

Included ClinVar conditions (35):

Autosomal dominant centronuclear myopathy; Myopathy, centronuclear, 5
Autosomal recessive limb-girdle muscular dystrophy type 2J
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
Autosomal recessive titinopathy
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Dilated cardiomyopathy 1G
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; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
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; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy; Congenital titinopathy
Hypertrophic cardiomyopathy 9
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive centronuclear myopathy
Primary dilated cardiomyopathy; Myopathy, centronuclear, 2; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related myopathy
Tibial muscular dystrophy

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)	rs727504198	0.00003
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	rs1064793560	0.00001
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NM_000540.3(RYR1):c.177dup (p.Asp60fs)	rs756326114
NM_000540.3(RYR1):c.7522C>A (p.Arg2508Ser)
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	rs146514343
NM_001267550.2(TTN):c.10115-1G>C	rs2088245783
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter)	rs2082478614
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)	rs727505277
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	rs756433029
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	rs543860009
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
NM_001267550.2(TTN):c.86822-2A>G	rs773710035
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	rs878854428
NM_001267550.2(TTN):c.91564+2T>C	rs1699208458
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
NM_001267550.2(TTN):c.98989+2T>C
NM_005876.5(SPEG):c.9004G>T (p.Glu3002Ter)

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