U.S. flag

An official website of the United States government

Cardiogenetic Research Center (Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences)

General information

Cardiogenetic Research Center
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences
Niayesh valiasr intersection
Tehran
Tehran
Iran - 1995614331
http://rhc.ac.ir/en
Organization ID: 507556

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 37

Gene

GeneSubmissionsLast Updated
ABCD14May 14, 2020
ASPA2May 15, 2020
CLN61May 14, 2020
EIF2B41May 15, 2020
FUCA12May 15, 2020
GALC2May 15, 2020
GJC24May 15, 2020
GLB11May 15, 2020
GTF3C2-AS21May 15, 2020
HEXA2Jun 1, 2020
HEXB1May 15, 2020
L2HGDH2May 15, 2020
LDLR2Jul 14, 2020
LDLRAP11Oct 1, 2020
LOC1254462611May 15, 2020
LOC1268056611May 15, 2020
LOC1300642791May 15, 2020
MLC12May 15, 2020
NDUFS11May 14, 2020
NDUFS71May 14, 2020
PLA2G61May 15, 2020
POLG1May 15, 2020
POLGARF1May 15, 2020
POLR3B1May 15, 2020
RNASET21May 14, 2020
SDHAF11May 15, 2020
SLC17A51May 15, 2020
SPATA222May 15, 2020
SUCLA21May 15, 2020
SURF11May 15, 2020

Condition

NameSubmissionsLast Updated
Adrenoleukodystrophy4May 14, 2020
Autosomal recessive inheritance1Oct 1, 2020
Ceroid lipofuscinosis, neuronal, 6A1May 14, 2020
Cystic leukoencephalopathy without megalencephaly1May 14, 2020
Familial type 3 hyperlipoproteinemia2Jul 14, 2020
Fucosidosis2May 15, 2020
Galactosylceramide beta-galactosidase deficiency2May 15, 2020
Hypomyelinating leukodystrophy 24May 15, 2020
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1May 15, 2020
Infantile GM1 gangliosidosis1May 15, 2020
Infantile neuroaxonal dystrophy1May 15, 2020
L-2-hydroxyglutaric aciduria2May 15, 2020
Leigh syndrome1May 15, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 12May 15, 2020
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1May 15, 2020
Mitochondrial complex 1 deficiency, nuclear type 31May 14, 2020
Mitochondrial complex 1 deficiency, nuclear type 51May 14, 2020
Mitochondrial complex II deficiency, nuclear type 11May 15, 2020
Progressive sclerosing poliodystrophy1May 15, 2020
Salla disease1May 15, 2020
Sandhoff disease1May 15, 2020
Spongy degeneration of central nervous system2May 15, 2020
Tay-Sachs disease2Jun 1, 2020
Vanishing white matter disease1May 15, 2020