ClinVar Miner

Variants from Department of Biochemistry, Faculty of Medicine, University of Khartoum

Location: Sudan  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 total
19 6 6 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABHD16A 2 0 0 2
ERCC8 0 2 0 2
NT5C2 2 0 0 2
SPG11 2 0 0 2
ADAT3, SCAMP4 1 0 0 1
AP5Z1 0 1 0 1
ARG1, MED23 1 0 0 1
ATP2B3 0 0 1 1
CCDC82 1 0 0 1
CCDC88C 0 1 0 1
DARS2 0 1 0 1
DDHD2 1 0 0 1
DMXL2 0 0 1 1
ERCC6 1 0 0 1
FA2H 1 0 0 1
HERC2 0 0 1 1
HUWE1 0 0 1 1
MCOLN1 1 0 0 1
MFSD8 0 0 1 1
NF1 1 0 0 1
POLR3A 1 0 0 1
PRUNE1 1 0 0 1
PTPRQ 0 0 1 1
SACS 1 0 0 1
SIL1 1 0 0 1
VLDLR 0 1 0 1
ZFYVE26 1 0 0 1

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance total
Cockayne syndrome type 1 0 2 0 2
Complex hereditary spastic paraplegia 2 0 0 2
Hereditary spastic paraplegia 11 2 0 0 2
Hereditary spastic paraplegia 45 2 0 0 2
Arginase deficiency 1 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 0 1 0 1
Charlevoix-Saguenay spastic ataxia 1 0 0 1
Cockayne syndrome type 2 1 0 0 1
Developmental delay with autism spectrum disorder and gait instability 0 0 1 1
Hearing loss, autosomal dominant 73 0 0 1 1
Hereditary spastic paraplegia 15 1 0 0 1
Hereditary spastic paraplegia 35 1 0 0 1
Hereditary spastic paraplegia 48 0 1 0 1
Hereditary spastic paraplegia 54 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 1
Intellectual disability-strabismus syndrome 1 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 1 0 1
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 1 0 0 1
Marinesco-Sjögren syndrome 1 0 0 1
Mucolipidosis type IV 1 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 0 1
Neurofibromatosis, type 1 1 0 0 1
Neuronal ceroid lipofuscinosis 7 0 0 1 1
Spasticity 0 0 1 1
Spinocerebellar ataxia type 40 0 1 0 1
Syndromic intellectual disability 1 0 0 1
X-linked progressive cerebellar ataxia 0 0 1 1

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