ClinVar Miner

Variants from 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
23 24 0 4 0 51

Gene and significance breakdown #

Total genes and gene combinations: 30
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic likely benign total
LDLR 12 3 0 15
PCSK9 1 0 4 5
FLNC 0 2 0 2
KCNH2 1 1 0 2
TTN 0 2 0 2
CASQ2 0 1 0 1
DES 0 1 0 1
DSP 0 1 0 1
DTNA 0 1 0 1
DYSF 0 1 0 1
EFEMP2 0 1 0 1
FBXO32 0 1 0 1
FLT4 1 0 0 1
GATA4 0 1 0 1
GFAP 1 0 0 1
GLA, RPL36A-HNRNPH2 0 1 0 1
KCNJ2 0 1 0 1
KCNQ1 1 0 0 1
LMNA 0 1 0 1
MED12 1 0 0 1
MYBPC3 0 1 0 1
MYH7 0 1 0 1
NF1 0 1 0 1
NR0B1 1 0 0 1
PPP1R13L 1 0 0 1
RBCK1 0 1 0 1
SLC19A2 1 0 0 1
SLC22A5 0 1 0 1
TPM1 1 0 0 1
TTR 1 0 0 1

Condition and significance breakdown #

Total conditions: 31
Download table as spreadsheet
Condition pathogenic likely pathogenic likely benign total
Hypercholesterolemia, familial, 1 12 3 0 15
Hypercholesterolemia, autosomal dominant, 3 1 0 4 5
Hypertrophic cardiomyopathy 26 0 2 0 2
Long QT syndrome 2 1 1 0 2
Alexander disease 1 0 0 1
Andersen Tawil syndrome 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 1
Atrial septal defect 2 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 1 0 1
Congenital adrenal hypoplasia, X-linked 1 0 0 1
Congenital heart defects, multiple types, 7 1 0 0 1
Cutis laxa, autosomal recessive, type 1B 0 1 0 1
Dilated cardiomyopathy 1A 0 1 0 1
Dilated cardiomyopathy 1G 0 1 0 1
Dilated cardiomyopathy 1I 0 1 0 1
Dilated cardiomyopathy 1Y 1 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 1 0 1
Fabry disease 0 1 0 1
Familial amyloid neuropathy 1 0 0 1
Hypertrophic cardiomyopathy 3 1 0 0 1
Hypertrophic cardiomyopathy 4 0 1 0 1
Left ventricular noncompaction 1 0 1 0 1
Long QT syndrome 1 1 0 0 1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 1 0 0 1
Myosin storage myopathy 0 1 0 1
Neurofibromatosis, type 1 0 1 0 1
OMIM: 606604 0 1 0 1
OMIM:607463 1 0 0 1
Polyglucosan body myopathy type 1 0 1 0 1
Renal carnitine transport defect 0 1 0 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.