ClinVar Miner

Variants from Genetic Diseases Diagnostic Center,Koc University Hospital

Location: Turkey — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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 19 0 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination likely pathogenic total
DYSF 4 4
FA2H 2 2
GFPT1 2 2
RYR1 2 2
SGCA 2 2
AGRN 1 1
CAPN3, SGCB 1 1
GNE 1 1
MMP2 1 1
PRKCG 1 1
SGCG 1 1
SPG7 1 1

Condition and significance breakdown #

Total conditions: 13
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Condition likely pathogenic total
Congenital myasthenic syndrome 12 2 2
Limb-girdle muscular dystrophy, type 2B 2 2
Limb-girdle muscular dystrophy, type 2D 2 2
Miyoshi muscular dystrophy 1 2 2
Myopathy, Central Core 2 2
Spastic paraplegia 35 2 2
Familial hypokalemia-hypomagnesemia 1 1
GNE myopathy 1 1
Limb-girdle muscular dystrophy, type 2A 1 1
Myasthenic syndrome, congenital, 8 1 1
Severe autosomal recessive muscular dystrophy of childhood - North African type 1 1
Spastic paraplegia 7 1 1
Spinocerebellar ataxia 14 1 1

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