ClinVar Miner

Variants from Center for Human Genetics,University of Leuven

Location: Belgium — Primary collection method: clinical testing
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
55 41 105 3 0 204

Gene and significance breakdown #

Total genes and gene combinations: 61
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
MYBPC3 21 13 17 0 51
MYH7 11 8 11 0 30
RYR2 0 1 9 0 10
FLNC 0 0 6 0 6
TNNI3 3 2 1 0 6
KCNH2 1 1 3 0 5
MYH6 0 0 5 0 5
POLA1 5 0 0 0 5
TNNT2 1 2 2 0 5
TPM1 0 2 3 0 5
CSRP3 0 0 3 0 3
DSP 0 0 3 0 3
HCN4 0 0 3 0 3
MAGT1 3 0 0 0 3
PRKAG2 2 1 0 0 3
SCN5A 0 0 3 0 3
VCL 0 0 2 1 3
ACTN2 0 0 2 0 2
AKAP9 0 0 2 0 2
ANK2 0 0 2 0 2
CASQ2 0 2 0 0 2
DDX3X 0 2 0 0 2
KCNQ1 1 0 1 0 2
LMNA 0 1 1 0 2
MYL3 1 0 1 0 2
MYLK2 0 0 2 0 2
MYPN 0 0 2 0 2
TRPM4 0 0 2 0 2
ABCC9 0 0 1 0 1
ACTC1, LOC101928174 0 0 1 0 1
CACNB2, NSUN6 0 0 1 0 1
CALR3 0 0 1 0 1
CRYAB 0 0 1 0 1
DES 1 0 0 0 1
DSC2 0 0 1 0 1
EP300 0 1 0 0 1
GJA5 0 0 1 0 1
HDAC8 0 0 1 0 1
KCNE1 0 0 1 0 1
KCNE2 0 0 1 0 1
KCNJ5 0 0 1 0 1
KLF12, ZNF462 1 0 0 0 1
LDB3 0 0 1 0 1
LOC114827850, MYL2 1 0 0 0 1
MECP2 0 1 0 0 1
MED12 0 0 1 0 1
MEN1 0 1 0 0 1
MYOZ2 0 0 1 0 1
NHS 0 1 0 0 1
RBM20 1 0 0 0 1
SCN2B 0 0 1 0 1
SIX3 1 0 0 0 1
SMC1A 0 1 0 0 1
SNTA1 0 0 0 1 1
SYNGAP1 0 1 0 0 1
TAF9B 0 0 1 0 1
TCAP 0 0 0 1 1
TGFB3 0 0 1 0 1
TMPO 0 0 1 0 1
TNNC1 1 0 0 0 1
WDR45 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 25
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Hypertrophic cardiomyopathy 41 28 85 1 155
Primary dilated cardiomyopathy 1 1 6 1 9
X-linked intellectual disability, Van Esch type 5 0 0 0 5
Long QT syndrome 2 2 1 0 1 4
Prolonged QT interval 0 0 4 0 4
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 3 0 0 3
not specified 0 0 3 0 3
Brugada syndrome 1 0 0 2 0 2
Congenital disorder of glycosylation 2 0 0 0 2
Mental retardation, X-linked 102 0 2 0 0 2
Brugada syndrome 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 0 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 1
Dilated cardiomyopathy 1DD 1 0 0 0 1
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia 1 0 0 0 1
Mental retardation, autosomal dominant 5 0 1 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 0 1
Nance-Horan syndrome 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 0 1 0 1
Rett syndrome 0 1 0 0 1
Rubinstein-Taybi syndrome 2 0 1 0 0 1
Single median maxillary incisor 1 0 0 0 1
Sudden cardiac death 0 0 1 0 1
Sudden cardiac death; Sinus bradycardia 0 0 1 0 1
not provided 1 0 0 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.