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Links from PubMed

Items: 5

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:42691815
GRCh38:
Chr15:42399617
CAPN3Limb-girdle muscular dystrophy, type 2A, not providedPathogenic
(May 8, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr15:42693953
GRCh38:
Chr15:42401755
CAPN3, POMT1Limb-girdle muscular dystrophy, type 2A, CAPN3-Related DisordersPathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr15:42680002
GRCh38:
Chr15:42387804
CAPN3, SGCBLimb-girdle muscular dystrophy, type 2A, Muscle weakness, not provided,
Arrhythmia, Elbow flexion contracture, EMG: myopathic abnormalities,
Shoulder girdle muscle weakness, Muscular dystrophy, Congenital muscular dystrophy,
Contractures of the joints of the lower limbs, Calf muscle hypertrophyLimb-Girdle Muscular Dystrophy, Recessive,
...see more
Pathogenic
(Nov 6, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr15:42703180-42703181
GRCh38:
Chr15:42410982-42410983
CAPN3Limb-girdle muscular dystrophy, type 2A, Myositis, eosinophilic, not provided
Pathogenic
(May 2, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:35065252
GRCh38:
Chr9:35065255
VCPInclusion body myopathy with early-onset paget disease and frontotemporal dementia, Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, not provided
Pathogenic/Likely pathogenic
(Jul 24, 2017)
criteria provided, multiple submitters, no conflicts
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