ClinVar Miner

List of variants studied for TTN-related myopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (29):

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
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
Minicore myopathy
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: 14

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HGVS	dbSNP	gnomAD frequency
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)	rs376076241	0.00012
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)	rs368572799	0.00004
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)	rs775496863	0.00001
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp)	rs1203435642	0.00001
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp)	rs1553480410
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)	rs747286444
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val)	rs1553906392
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu)	rs753460621
NM_001267550.2(TTN):c.33826+1G>A	rs1389908421
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)	rs1554015228
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)	rs1553809971
NM_001267550.2(TTN):c.39379+2T>G	rs1560102141
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)	rs1559446852
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)	rs776793953

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