ClinVar Miner

Variants from Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

Location: Russian Federation  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
73 91 155 2 2 321

Gene and significance breakdown #

Total genes and gene combinations: 136
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBN1 32 9 4 0 0 45
SCN5A 4 12 2 0 1 18
MYH7 1 5 10 0 0 16
MYBPC3 3 1 9 0 0 13
TTN 0 9 3 0 0 12
KCNH2 2 6 2 0 1 11
KCNQ1 2 5 2 0 0 9
DSP 1 1 4 0 0 6
FLNC 1 2 3 0 0 6
LMNA 1 3 2 0 0 6
DES 2 1 2 0 0 5
LOC126861898, MYH7 0 4 0 0 0 4
PKP2 2 2 0 0 0 4
BRCA2 0 0 3 0 0 3
CASZ1 0 0 3 0 0 3
DSG2 2 1 0 0 0 3
F5 0 0 3 0 0 3
FHOD3 0 0 3 0 0 3
KCNJ2 1 1 1 0 0 3
LOC126861897, MHRT, MYH7 0 0 3 0 0 3
MYH6 0 0 3 0 0 3
RBM20 0 1 2 0 0 3
TPM1 1 1 1 0 0 3
ACTN2 0 0 2 0 0 2
AKAP9 0 0 2 0 0 2
ALPK3 0 2 0 0 0 2
ANK2 0 0 2 0 0 2
COL3A1 0 2 0 0 0 2
COL4A5 0 1 1 0 0 2
CSRP3 0 0 2 0 0 2
DSC2 0 0 2 0 0 2
DYSF 0 0 2 0 0 2
EDNRB 0 2 0 0 0 2
ENG 2 0 0 0 0 2
FBN1, LOC126862124 2 0 0 0 0 2
KCNJ16 0 0 2 0 0 2
LZTR1 0 1 1 0 0 2
MIB1 0 2 0 0 0 2
MYBPHL 0 0 2 0 0 2
MYPN 0 0 2 0 0 2
PKD1 0 0 2 0 0 2
RIT1 2 0 0 0 0 2
SCN3B 0 0 2 0 0 2
SNTA1 0 0 1 1 0 2
TNNI3 0 2 0 0 0 2
TRPM4 0 1 1 0 0 2
ABCA3 0 0 1 0 0 1
ABCC6 0 0 1 0 0 1
ABL1 0 0 1 0 0 1
ACAD9 0 1 0 0 0 1
ACTA2 0 0 1 0 0 1
ACTC1, GJD2-DT 0 0 1 0 0 1
ADAMTSL2 0 0 0 1 0 1
ALK 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 1
APC 1 0 0 0 0 1
ASIC4, SPEG 0 0 1 0 0 1
ASTN2, TRIM32 0 0 1 0 0 1
BAG3 0 0 1 0 0 1
BRCA1 0 0 1 0 0 1
C1R 0 1 0 0 0 1
CACNA1D 0 0 1 0 0 1
CACNB2 0 0 1 0 0 1
CALM2 0 1 0 0 0 1
CASQ2 0 0 1 0 0 1
CDK13 0 0 1 0 0 1
COL1A2 0 0 1 0 0 1
COL2A1 0 0 1 0 0 1
COL9A1 0 0 1 0 0 1
CTF1, LOC130058878 0 0 1 0 0 1
DCHS1 0 0 1 0 0 1
DMD 1 0 0 0 0 1
DTNA 0 0 1 0 0 1
ELN 0 0 1 0 0 1
EMD 0 0 1 0 0 1
FBN1, LOC130057019 1 0 0 0 0 1
FBXO32 0 0 1 0 0 1
FKTN 0 0 1 0 0 1
FLNA, LOC107988032 1 0 0 0 0 1
GATA4 0 0 1 0 0 1
HCN2 0 0 1 0 0 1
JUP 0 0 1 0 0 1
KCNA5 0 0 1 0 0 1
KCNJ5 0 0 1 0 0 1
LAMA4 0 0 1 0 0 1
LAMP2 1 0 0 0 0 1
LDLR 1 0 0 0 0 1
LMNA, LOC126805877 1 0 0 0 0 1
LOC126862085, TJP1 0 0 1 0 0 1
LOX, SRFBP1 0 1 0 0 0 1
LPA 0 0 1 0 0 1
MSH2 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
MYL2 0 0 1 0 0 1
MYLIP 0 0 1 0 0 1
MYLK3 0 0 1 0 0 1
MYO18B 0 0 1 0 0 1
MYOM2 0 1 0 0 0 1
MYOZ2 0 0 1 0 0 1
NAGLU 0 1 0 0 0 1
NEBL 0 1 0 0 0 1
NF1 0 0 1 0 0 1
OBSCN 0 0 1 0 0 1
PLEKHO2 0 0 1 0 0 1
PLS3 0 1 0 0 0 1
POLD1 0 0 1 0 0 1
POLR2F, SOX10 1 0 0 0 0 1
PPA2 0 0 1 0 0 1
PPOX 0 1 0 0 0 1
PRDM16 0 0 1 0 0 1
RAF1 0 1 1 0 0 1
RET 1 0 0 0 0 1
RPL3L 0 0 1 0 0 1
SAMD9L 0 0 1 0 0 1
SCN10A 0 0 1 0 0 1
SCNN1A 0 0 1 0 0 1
SDHA 0 1 0 0 0 1
SDHB 0 0 1 0 0 1
SERPINC1 0 0 1 0 0 1
SKI 0 0 1 0 0 1
SLC25A4 0 0 1 0 0 1
SLC4A3 0 0 1 0 0 1
SOS1 0 0 1 0 0 1
STK11 0 1 0 0 0 1
TFR2 1 0 0 0 0 1
TGFBR1 1 0 0 0 0 1
THBS2 0 0 1 0 0 1
TJP2 0 1 0 0 0 1
TNNT2 1 0 0 0 0 1
TRPS1 0 1 0 0 0 1
TTR 0 0 1 0 0 1
TXNRD2 0 0 1 0 0 1
VCL 0 0 1 0 0 1
WNK4 0 0 1 0 0 1
XRCC2 0 0 1 0 0 1
ZNF469 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 99
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Marfan syndrome 34 9 3 0 0 46
Primary familial hypertrophic cardiomyopathy 2 3 22 0 0 27
Primary dilated cardiomyopathy 1 6 17 0 0 24
Cardiomyopathy 0 6 17 0 0 23
See cases 2 2 12 0 0 16
Brugada syndrome 1 8 5 0 0 14
Brugada syndrome 1 3 4 3 0 0 10
Cardiac arrhythmia 1 1 8 0 0 10
Arrhythmogenic right ventricular dysplasia 9 4 3 0 0 0 7
Hypertrophic cardiomyopathy 0 2 5 0 0 7
Long QT syndrome 1 1 5 1 0 0 7
Congenital long QT syndrome 0 0 3 1 2 6
Long QT syndrome 2 1 4 1 0 0 6
Long QT syndrome 2 0 3 0 0 5
Restrictive cardiomyopathy 0 2 3 0 0 5
Dilated cardiomyopathy 1A 1 2 1 0 0 4
Connective tissue disorder 0 0 3 0 0 3
Connective tissue dysplasia 1 0 1 1 0 3
Dilated cardiomyopathy 1G 0 3 0 0 0 3
Infiltrating duct carcinoma of breast 0 0 3 0 0 3
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 2 1 0 0 3
Varicose disease 0 0 3 0 0 3
Aganglionosis, total intestinal; Hearing impairment 0 2 0 0 0 2
Congenital aneurysm of ascending aorta 0 0 2 0 0 2
Dilated cardiomyopathy 1DD 0 1 1 0 0 2
Dilated cardiomyopathy 1S 0 0 2 0 0 2
Ehlers-Danlos syndrome, type 4 0 2 0 0 0 2
Familial cancer of breast 0 0 2 0 0 2
Hereditary cancer 0 0 2 0 0 2
Hypertrophic cardiomyopathy 26 0 2 0 0 0 2
Inherited lipid metabolism disorder 0 0 2 0 0 2
Left ventricular noncompaction 7 0 2 0 0 0 2
Malignant tumor of unknown origin 1 0 1 0 0 2
Polymorphic ventricular tachycardia 0 0 2 0 0 2
Primary familial dilated cardiomyopathy 0 2 0 0 0 2
Progressive familial heart block 0 0 2 0 0 2
Rare disease with thoracic aortic aneurysm and aortic dissection 0 0 2 0 0 2
Telangiectasia, hereditary hemorrhagic, type 1 2 0 0 0 0 2
Andersen Tawil syndrome 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 0 1 0 0 1
Atrial fibrillation, familial, 9 0 1 0 0 0 1
Atrial fibrillation; Tachycardia; Atrial flutter; Abnormal morphology of left ventricular trabeculae 0 0 1 0 0 1
Bone mineral density quantitative trait locus 18 0 1 0 0 0 1
Bradycardia; Progressive familial heart block 0 1 0 0 0 1
Brugada syndrome 4 0 0 1 0 0 1
Brugada syndrome 7 0 0 1 0 0 1
Bullous lung disease 0 0 1 0 0 1
Cardiomyopathy, dilated, 2D 0 0 1 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 1 0 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 1
Concentric hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Congenital heart disease; Noonan syndrome 1 0 0 0 0 1
Desmin-related myofibrillar myopathy 1 0 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 0 1
Dilated cardiomyopathy 1D 1 0 0 0 0 1
Dilated cardiomyopathy 1HH 0 0 1 0 0 1
Dilated cardiomyopathy 1I 1 0 0 0 0 1
Dilated cardiomyopathy 1JJ 0 0 1 0 0 1
Dilated cardiomyopathy 3B 1 0 0 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 0 1
Familial sick sinus syndrome 0 1 0 0 0 1
First degree atrioventricular block 0 0 1 0 0 1
Hemochromatosis type 3 1 0 0 0 0 1
Hereditary antithrombin deficiency 0 0 1 0 0 1
Hereditary cancer-predisposing syndrome 0 0 1 0 0 1
Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder 1 0 0 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1 0 1 0 0 0 1
Hypertrophic cardiomyopathy 12 0 0 1 0 0 1
Hypertrophic cardiomyopathy 14 0 0 1 0 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 0 0 0 1
Hypertrophic cardiomyopathy 3 1 0 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 1
Hypertrophic cardiomyopathy; Biventricular noncompaction cardiomyopathy 0 1 0 0 0 1
Internal carotid artery stenosis 0 0 1 0 0 1
Left ventricular hypertrophy; Left ventricular noncompaction cardiomyopathy 0 1 0 0 0 1
Left ventricular noncompaction; Hypertrophic cardiomyopathy 0 0 1 0 0 1
Loeys-Dietz syndrome 1; Marfan syndrome 1 0 0 0 0 1
Long QT syndrome 11 0 0 1 0 0 1
Long QT syndrome 15 0 1 0 0 0 1
MYH6-related cardiovascular disease 0 0 1 0 0 1
Metaphyseal chondrodysplasia 0 1 0 0 0 1
Myocarditis; Acute myocardial infarction 0 0 1 0 0 1
Noonan syndrome 0 0 1 0 0 1
Noonan syndrome 8 1 0 0 0 0 1
Patent foramen ovale; Dysplastic corpus callosum; Patent ductus arteriosus 1 0 0 0 0 1
Patent foramen ovale; Episodic vomiting; Facial asymmetry; Asymmetry of the thorax; Abnormal ventricular septum morphology; Two-raphe bicuspid aortic valve; Abnormal morphology of left ventricular trabeculae 1 0 0 0 0 1
Peutz-Jeghers syndrome 0 1 0 0 0 1
Primary biliary cholangitis 0 1 0 0 0 1
Primary dilated cardiomyopathy; Congenital myopathy 1 0 0 0 0 1
Progressive familial heart block type IB 0 1 0 0 0 1
SKI-related disorder 0 0 1 0 0 1
Short QT syndrome 0 0 1 0 0 1
Sudden cardiac death 0 1 0 0 0 1
Trigonitis 0 1 0 0 0 1
Vascular dilatation 0 0 1 0 0 1
Waardenburg syndrome type 4A 1 0 0 0 0 1

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