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
1 20 0 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic total
DYSF 0 4 4
FA2H 0 2 2
GFPT1 0 2 2
RYR1 0 2 2
SGCA 0 2 2
AGRN 0 1 1
BLTP1 0 1 1
CAPN3 0 1 1
GNE 0 1 1
MMP2 0 1 1
PRKCG 0 1 1
SGCG 0 1 1
SPG7 0 1 1
TERT 1 0 1

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic total
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 2 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 2 2
Central core myopathy 0 2 2
Congenital myasthenic syndrome 12 0 2 2
Hereditary spastic paraplegia 35 0 2 2
Miyoshi muscular dystrophy 1 0 2 2
Alkuraya-Kucinskas syndrome 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 1 1
Congenital myasthenic syndrome 8 0 1 1
Familial hypokalemia-hypomagnesemia 0 1 1
GNE myopathy 0 1 1
Hereditary spastic paraplegia 7 0 1 1
Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 4 1 0 1
Spinocerebellar ataxia type 14 0 1 1

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