ClinVar Miner

Variants from Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences

Location: Iran, Islamic Republic of  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
21 9 10 0 0 40

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COLQ 7 2 2 11
ACADVL 2 3 0 5
COL6A2 0 0 3 3
PNPLA2 1 0 2 3
OBSCN 2 0 0 2
SH3TC2 1 0 1 2
ALG2 1 0 0 1
C17orf107, CHRNE 1 0 0 1
CHAT 1 0 0 1
CHRNE 1 0 0 1
DHTKD1 0 0 1 1
DNAJB6 1 0 0 1
DOK7 0 0 1 1
DOK7, LOC129992118 0 1 0 1
DYSF 1 0 0 1
LOC107303340, VHL 1 0 0 1
LOC130005097, PNPLA2 0 1 0 1
LYRM7 1 0 0 1
RAPSN 0 1 0 1
SPG7 0 1 0 1

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance total
Synaptic congenital myasthenic syndrome 5 2 2 9
Very long chain acyl-CoA dehydrogenase deficiency 2 3 0 5
Neutral lipid storage myopathy 1 1 2 4
Bethlem myopathy 0 0 3 3
Charcot-Marie-Tooth disease type 4C 1 0 1 2
Congenital myasthenic syndrome 10 0 1 1 2
Congenital myasthenic syndrome 5 2 0 0 2
Familial infantile myasthenia 2 0 0 2
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Q 0 0 1 1
Congenital myasthenic syndrome 1 0 0 1
Congenital myasthenic syndrome 11 0 1 0 1
Congenital myasthenic syndrome 14 1 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 1
Hearing loss, autosomal recessive 120 1 0 0 1
Hereditary spastic paraplegia 7 0 1 0 1
Mitochondrial complex III deficiency nuclear type 1 1 0 0 1
Miyoshi muscular dystrophy 1 1 0 0 1
Rhabdomyolysis, susceptibility to, 1 1 0 0 1

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