ClinVar Miner

Variants from Neurogenomics Lab, Neuroscience Institute, University Of Cape Town

Location: South Africa  Primary collection method: research
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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
14 16 13 0 0 43

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MFN2 2 2 0 4
SPG11 2 0 1 3
ALDH18A1 0 0 2 2
CAPN3 0 1 1 2
CLCN1 2 0 0 2
CYP7B1 0 0 2 2
DES 1 1 0 2
GAN 0 0 2 2
KIF1A 0 2 0 2
MPV17 0 0 2 2
VWA1 1 1 0 2
ADPRS 1 0 0 1
ANXA11 0 1 0 1
ATL1 0 1 0 1
ATM 0 1 0 1
ATP1A1 0 1 0 1
C17orf107, CHRNE 1 0 0 1
CAPN3, LOC126862115 0 1 0 1
DYNC1H1 0 1 0 1
GJB1 1 0 0 1
MORC2 1 0 0 1
MPZ 0 0 1 1
PCYT2 0 1 0 1
PHKA1 0 0 1 1
PSEN1 0 1 0 1
RFT1 0 0 1 1
SERAC1 0 1 0 1
SPAST 1 0 0 1
SPG7 1 0 0 1

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance total
Charcot-Marie-Tooth disease type 2A2 2 2 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 2 1 3
Hereditary spastic paraplegia 11 2 0 1 3
Charcot-Marie-Tooth disease, axonal, type 2EE 0 0 2 2
Congenital myotonia, autosomal recessive form 2 0 0 2
Desmin-related myofibrillar myopathy 1 1 0 2
Giant axonal neuropathy 0 0 2 2
Hereditary spastic paraplegia 30 0 2 0 2
Hereditary spastic paraplegia 5A 0 0 2 2
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 1 0 2
Alzheimer disease 3 0 1 0 1
Amyotrophic lateral sclerosis 0 1 0 1
Ataxia-telangiectasia syndrome 0 1 0 1
Autosomal recessive complex spastic paraplegia type 9B 0 0 1 1
Charcot-Marie-Tooth disease X-linked dominant 1 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 1 0 0 1
Charcot-Marie-Tooth disease type 1B 0 0 1 1
Charcot-marie-tooth disease, axonal, type 2DD 0 1 0 1
Congenital myasthenic syndrome 4C 1 0 0 1
Dyneinopathy 0 1 0 1
Glycogen storage disease IXd 0 0 1 1
Hereditary spastic paraplegia 3A 0 1 0 1
Hereditary spastic paraplegia 4 1 0 0 1
Hereditary spastic paraplegia 7 1 0 0 1
Hereditary spastic paraplegia 9A 0 0 1 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 0 0 1
RFT1-congenital disorder of glycosylation 0 0 1 1
SERAC1-related neurological disorder 0 1 0 1
Spastic paraplegia 82, autosomal recessive 0 1 0 1

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