ClinVar Miner

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

Location: Iran, Islamic Republic of  Primary collection method: research
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Gene type:
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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
24 25 0 4 0 53

Gene and significance breakdown #

Total genes and gene combinations: 31
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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
LMNA 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
FBN1 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
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: 32
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Condition pathogenic likely pathogenic likely benign total
Hypercholesterolemia, familial, 1 12 3 0 15
Hypercholesterolemia, autosomal dominant, 3 1 0 4 5
Dilated cardiomyopathy 1A 1 1 0 2
Hypertrophic cardiomyopathy 26 0 2 0 2
Long QT syndrome 2 1 1 0 2
Alexander disease 1 0 0 1
Amyloidosis, hereditary systemic 1 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 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
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
Marfan syndrome 0 1 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

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