ClinVar Miner

List of variants in gene combination LOC126806431, 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)	rs185962498	0.00028
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)	rs200018866	0.00022
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)	rs374682077	0.00009
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)	rs368692616	0.00009
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)	rs727504441	0.00003
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)	rs928844023	0.00001
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr)	rs1225094303	0.00001
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met)	rs1041967765	0.00001
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr)	rs763665430	0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr)	rs775293848	0.00001
NM_001267550.2(TTN):c.17278del (p.Thr5760fs)	rs2080494323
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile)	rs1553924253
NM_001267550.2(TTN):c.17364C>T (p.Tyr5788=)	rs2080475152
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg)	rs572678771
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile)	rs2154308873

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