ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant distal myopathy by Baylor Genetics

Included ClinVar conditions (33):

Alpha-B crystallinopathy
Alpha-B crystallinopathy; Cataract 16, multiple types; Fatal infantile hypertonic myofibrillar myopathy; Dilated cardiomyopathy 1II
Amyotrophic lateral sclerosis 21
Deafness, autosomal dominant 4; Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Dilated cardiomyopathy 1C; Myofibrillar myopathy, ZASP-related
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Familial hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1I; Myofibrillar myopathy 1; Neurogenic scapuloperoneal syndrome, Kaeser type
Dilated cardiomyopathy 1I; Myofibrillar myopathy 1; Neurogenic scapuloperoneal syndrome, Kaeser type; Muscular dystrophy, limb-girdle, type 2R
Distal myopathy, Tateyama type
Elevated serum creatine phosphokinase; Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type
Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Myofibrillar myopathy 1
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R
Myofibrillar myopathy 3
Myofibrillar myopathy, ZASP-related
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant
Myopathy, distal, 4
Myopathy, myofibrillar, 9, with early respiratory failure
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Primary dilated cardiomyopathy; Myofibrillar myopathy 1
Primary dilated cardiomyopathy; Myofibrillar myopathy 1; Neuromuscular disease
Rippling muscle disease 2; Distal myopathy, Tateyama type
Spheroid body myopathy
Spheroid body myopathy; Myofibrillar myopathy 3
Tibial muscular dystrophy
Welander distal myopathy

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP
GRCh37/hg19 2q31.2(chr2:179403525-179655493)

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