ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported as uncertain significance for autosomal dominant distal myopathy

Included ClinVar conditions (33):

Amyotrophic lateral sclerosis type 21
Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Cardiomyopathy, familial restrictive, 1; Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement
Dilated cardiomyopathy 1C; Myofibrillar myopathy 4
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; 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
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy, Tateyama type
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type
Finnish upper limb-onset distal myopathy
Myofibrillar myopathy 2
Myofibrillar myopathy 2; Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II
Myofibrillar myopathy 3
Myofibrillar myopathy 4
Myofibrillar myopathy 5; Desmin-related myofibrillar myopathy; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant
Myofibrillar myopathy 5; Primary familial hypertrophic cardiomyopathy; Distal myopathy with posterior leg and anterior hand involvement
Myopathy, myofibrillar, 9, with early respiratory failure
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
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
Rippling muscle disease 2; Distal myopathy, Tateyama type
Tibial muscular dystrophy
Welander distal myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	rs201358641	0.00031
NM_001267550.2(TTN):c.53002+10G>A	rs370352450	0.00006
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)	rs780672348	0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)	rs773447539	0.00004
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)	rs756689649	0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)	rs748265704	0.00003
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys)	rs375966756	0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)	rs536494011	0.00002
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His)	rs886055267	0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)	rs559590585	0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)	rs535008556	0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys)	rs369001587	0.00001
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)	rs766817830	0.00001
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu)	rs2055350149
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=)	rs373140387
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)	rs886042743
NM_001267550.2(TTN):c.53236G>A (p.Ala17746Thr)	rs886055266
NM_001267550.2(TTN):c.53322T>G (p.Val17774=)	rs886055265

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