ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by GeneReviews

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
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)	rs140319117	0.00095
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	rs753334568	0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	rs281865142	0.00001
NM_001267550.2(TTN):c.107647del (p.Ser35883fs)	rs281864932
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	rs281864927
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)	rs281864931
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)	rs281864933
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)	rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)	rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)	rs869320742
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)	rs869320743
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)	rs104894201
NM_001289808.2(CRYAB):c.60del (p.Ser21fs)	rs281865141
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)	rs281865143
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)	rs28937597

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