ClinVar Miner

Variants from Center for Medical Genetics Ghent,University of Ghent

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
188 382 179 14 0 762

Gene and significance breakdown #

Total genes and gene combinations: 24
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FBN1 169 348 172 13 701
FBN1, LOC113939944 3 4 3 1 11
MYBPC3 5 4 0 0 9
RCBTB1 0 4 2 0 6
SCN5A 0 5 0 0 5
FOXL2 3 0 0 0 3
MYH7 2 1 0 0 3
RYR2 1 2 0 0 3
TNNT2 1 1 1 0 3
COL2A1 2 0 0 0 2
KCNH2 0 2 0 0 2
KCNQ1 0 2 0 0 2
BEST1 1 0 0 0 1
CACNA2D1 0 1 0 0 1
CACNA2D1, CD36, DMTF1, GNAI1, GNAT3, GRM3, HGF, KIAA1324L, LINC00972, LOC100128317, LOC101927269, LOC101927356, LOC101927378, LOC101927420, LOC105369146, LOC110121304, LOC110121310, LOC111413046, PCLO, SEMA3A, SEMA3C, SEMA3D, SEMA3E 0 1 0 0 1
CACNA2D1, HGF, LOC100128317, LOC101927356, LOC110121310, PCLO, SEMA3A, SEMA3E 0 1 0 0 1
CALM1 0 1 0 0 1
GPR143 0 1 0 0 1
LOC114827850, MYL2 0 1 0 0 1
NEXN 0 0 1 0 1
NKX2-5 1 0 0 0 1
RBM20 0 1 0 0 1
TPM1 0 1 0 0 1
TTN 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 24
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Marfan syndrome 172 352 175 14 712
Familial hypertrophic cardiomyopathy 4 5 4 0 0 9
Retinitis pigmentosa 0 4 2 0 6
Brugada syndrome 1 0 4 0 0 4
Blepharophimosis, ptosis, and epicanthus inversus 3 0 0 0 3
Catecholaminergic polymorphic ventricular tachycardia type 1 1 2 0 0 3
Seizures; Intellectual disability 0 3 0 0 3
Familial hypertrophic cardiomyopathy 1 1 1 0 0 2
Left ventricular noncompaction 6 1 0 1 0 2
Long QT syndrome 1 0 2 0 0 2
Long QT syndrome 2 0 2 0 0 2
Stickler syndrome 2 0 0 0 2
Atrial septal defect 7 with or without atrioventricular conduction defects 1 0 0 0 1
Dilated cardiomyopathy 1CC 0 0 1 0 1
Dilated cardiomyopathy 1DD 0 1 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 1
Dilated cardiomyopathy 1S 1 0 0 0 1
Dilated cardiomyopathy 1Y 0 1 0 0 1
Familial hypertrophic cardiomyopathy 10 0 1 0 0 1
Familial hypertrophic cardiomyopathy 2 0 1 0 0 1
Long QT syndrome 3 0 1 0 0 1
Ocular albinism, type I 0 1 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 4 0 1 0 0 1
Vitelliform macular dystrophy type 2 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.