ClinVar Miner

Variants from Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

Location: Iran, Islamic 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 total
12 16 9 0 0 37

Gene and significance breakdown #

Total genes and gene combinations: 26
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCD1 0 4 0 4
GJC2 1 3 0 4
ASPA, SPATA22 1 0 1 2
GALC 0 1 1 2
HEXA 1 1 0 2
L2HGDH 1 0 1 2
LDLR 2 0 0 2
CLN6 0 0 1 1
EIF2B4, GTF3C2 0 0 1 1
FUCA1 1 0 0 1
FUCA1, LOC126805661 0 1 0 1
GLB1 0 1 0 1
HEXB 1 0 0 1
LDLRAP1 1 0 0 1
LOC125446261, MLC1 1 0 0 1
LOC130064279, SDHAF1 0 0 1 1
MLC1 0 0 1 1
NDUFS1 0 1 0 1
NDUFS7 0 1 0 1
PLA2G6 0 0 1 1
POLG, POLGARF 0 0 1 1
POLR3B 0 1 0 1
RNASET2 1 0 0 1
SLC17A5 0 1 0 1
SUCLA2 0 1 0 1
SURF1 1 0 0 1

Condition and significance breakdown #

Total conditions: 24
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Adrenoleukodystrophy 0 4 0 4
Hypomyelinating leukodystrophy 2 1 3 0 4
Familial type 3 hyperlipoproteinemia 2 0 0 2
Fucosidosis 1 1 0 2
Galactosylceramide beta-galactosidase deficiency 0 1 1 2
L-2-hydroxyglutaric aciduria 1 0 1 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 1 2
Spongy degeneration of central nervous system 1 0 1 2
Tay-Sachs disease 1 1 0 2
Autosomal recessive inheritance 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 0 0 1 1
Cystic leukoencephalopathy without megalencephaly 1 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 1 0 1
Infantile GM1 gangliosidosis 0 1 0 1
Infantile neuroaxonal dystrophy 0 0 1 1
Leigh syndrome 1 0 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 3 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 5 0 1 0 1
Mitochondrial complex II deficiency, nuclear type 1 0 0 1 1
Progressive sclerosing poliodystrophy 0 0 1 1
Salla disease 0 1 0 1
Sandhoff disease 1 0 0 1
Vanishing white matter disease 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.