ClinVar Miner

Variants from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea

Location: Korea, Republic of — Primary collection method: research
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 affects total
33 9 4 0 0 3 49

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance affects total
DYSF 2 2 0 0 4
CACNA1A 3 0 0 0 3
GNE 2 0 0 1 3
ALDH3A2 2 0 0 0 2
ANO5 1 0 0 1 2
ATM 2 0 0 0 2
CAPN3 2 0 0 0 2
DES 2 0 0 0 2
DMD 2 0 0 0 2
EIF2B3 0 0 2 0 2
GJB1 2 0 0 0 2
LMNA 1 0 1 0 2
RYR1 1 1 0 0 2
SACS 0 1 0 1 2
SPAST 2 0 0 0 2
SPG11 2 0 0 0 2
TTN 2 0 0 0 2
WDR62 0 2 0 0 2
ACTA1 0 1 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 1
CYP27A1 1 0 0 0 1
EMD 1 0 0 0 1
INF2 0 1 0 0 1
MFN2 1 0 0 0 1
MYH7 0 1 0 0 1
PMP22 1 0 0 0 1
REEP1 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance affects total
Autosomal recessive limb-girdle muscular dystrophy type 2B 2 2 0 0 4
GNE myopathy 2 0 0 1 3
Ataxia-telangiectasia syndrome 2 0 0 0 2
Charlevoix-Saguenay spastic ataxia 0 1 0 1 2
Duchenne muscular dystrophy 2 0 0 0 2
Episodic ataxia type 2 2 0 0 0 2
Leukoencephalopathy with vanishing white matter 0 0 2 0 2
Limb-girdle muscular dystrophy, type 2A 2 0 0 0 2
Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 1 0 0 1 2
Minicore myopathy 1 1 0 0 2
Myofibrillar myopathy 1 2 0 0 0 2
Myopathy, early-onset, with fatal cardiomyopathy; Congenital titinopathy 2 0 0 0 2
Primary autosomal recessive microcephaly 2 0 2 0 0 2
Sjögren-Larsson syndrome 2 0 0 0 2
Spastic paraplegia 11, autosomal recessive 2 0 0 0 2
Spastic paraplegia 4, autosomal dominant 2 0 0 0 2
X-linked hereditary motor and sensory neuropathy 2 0 0 0 2
Ataxia _ Neurologic (child onset); Non-progressive congenital cerebellar ataxia 1 0 0 0 1
Charcot-Marie-Tooth disease and deafness 1 0 0 0 1
Charcot-Marie-Tooth disease, dominant intermediate E 0 1 0 0 1
Charcot-Marie-Tooth disease, type 2A2A 1 0 0 0 1
Cholestanol storage disease 1 0 0 0 1
Congenital muscular dystrophy, LMNA-related 1 0 0 0 1
Congenital myopathy with excess of thin filaments; ACTA1 gene related myopathy 0 1 0 0 1
Distal hereditary motor neuronopathy type 5; Spastic paraplegia 17 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 1, X-linked 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 0 1
Myosin storage myopathy 0 1 0 0 1
Spastic paraplegia 31, autosomal dominant 0 0 1 0 1

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