ClinVar Miner

List of variants studied for TTN-related myopathy by MGZ Medical Genetics Center

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)	rs878854299	0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)	rs1553539391	0.00001
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	rs534484592
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	rs1250336644
NM_001267550.2(TTN):c.16622-3C>G
NM_001267550.2(TTN):c.65106_65107del (p.Asn21702fs)
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)	rs371678190
NM_001267550.2(TTN):c.86456A>C (p.Asp28819Ala)
NM_001267550.2(TTN):c.99265_99266del (p.Met33089fs)

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