ClinVar Miner

Variants from Center for Genetic Medicine Research,Children's National Medical Center

Location: United States — Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
0 33 39 0 0 72

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination likely pathogenic uncertain significance total
TTN 5 12 17
RYR1 4 1 5
COL6A2 1 3 4
COL6A3 1 3 4
LAMA2 1 3 4
ACTA1 2 1 3
DYSF 3 0 3
POMT2 2 1 3
ANO5 2 0 2
COL6A1 0 2 2
DES 2 0 2
DMD 1 1 2
DNM2 0 2 2
FKRP 1 1 2
ITGA7 0 2 2
LMNA 1 1 2
MYH7 1 1 2
NEB 1 1 2
CAPN3 1 0 1
CAV3 0 1 1
CAV3, SSUH2 1 0 1
DYNC1H1 1 0 1
MYOT 0 1 1
NEB, RIF1 0 1 1
SELENON 0 1 1
TPM2 1 0 1
TPM3 1 0 1

Condition and significance breakdown #

Total conditions: 24
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Condition likely pathogenic uncertain significance total
not specified 0 39 39
Myopathy, Central Core 4 0 4
Congenital muscular dystrophy 3 0 3
Bethlem myopathy 1 2 0 2
Congenital myopathy 2 0 2
Limb-girdle muscular dystrophy, type 2B 2 0 2
Limb-girdle muscular dystrophy, type 2L 2 0 2
Myofibrillar myopathy 1 2 0 2
Congenital muscular dystrophy with rigid spine 1 0 1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 1 0 1
Duchenne muscular dystrophy 1 0 1
Limb-girdle muscular dystrophy, type 1B 1 0 1
Limb-girdle muscular dystrophy, type 1C 1 0 1
Limb-girdle muscular dystrophy, type 2A 1 0 1
Limb-girdle muscular dystrophy, type 2J 1 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 1 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 1 0 1
Merosin deficient congenital muscular dystrophy 1 0 1
Miyoshi muscular dystrophy 1 1 0 1
Nemaline myopathy 1 1 0 1
Nemaline myopathy 2 1 0 1
Nemaline myopathy 3 1 0 1
Nemaline myopathy 4 1 0 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 1 0 1

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