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
200 391 179 14 0 783

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FBN1 163 339 168 12 681
FBN1, LOC126862124 6 8 3 1 18
FBN1, LOC113939944 3 4 3 1 11
MYBPC3 5 4 0 0 9
RCBTB1 0 4 2 0 6
EMILIN1 5 0 0 0 5
PRDM5 2 3 0 0 5
SCN5A 0 5 0 0 5
ZNF469 2 3 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
BLM 2 0 0 0 2
COL2A1 2 0 0 0 2
FBN1, LOC130057019 0 1 1 0 2
KCNH2 0 2 0 0 2
KCNQ1 0 2 0 0 2
ANO3 0 1 0 0 1
BEST1 1 0 0 0 1
CACNA2D1 0 1 0 0 1
CACNA2D1, CD36, DMTF1, ELAPOR2, GNAI1, GNAT3, GRM3, HGF, LINC00972, LINC03017, LOC100128317, LOC101927269, LOC105369146, LOC110121304, LOC110121310, LOC111413046, LOC121175349, LOC123956173, LOC123956174, LOC123956175, LOC126860080, LOC126860081, LOC126860082, LOC126860083, LOC126860084, LOC126860085, LOC126860086, LOC126860087, LOC126860088, LOC126860089, LOC126860090, LOC126860091, LOC126860092, LOC126860093, LOC126860094, LOC126860095, LOC129389819, LOC129389820, LOC129998722, LOC129998723, LOC129998724, LOC129998725, LOC129998726, LOC129998727, LOC129998728, LOC129998729, LOC129998730, LOC129998731, LOC129998732, LOC129998733, LOC129998734, LOC129998735, LOC129998736, LOC129998737, LOC129998738, LOC129998739, LOC129998740, LOC129998741, LOC129998742, LOC129998743, LOC129998744, LOC129998745, LOC129998746, LOC129998747, LOC132089505, LOC132089506, LOC132089507, LOC132089508, LOC132089509, LOC132089510, LOC132089511, LOC132089512, LOC132090781, PCLO, SEMA3A, SEMA3C, SEMA3D, SEMA3E 0 1 0 0 1
CACNA2D1, HGF, LOC100128317, LOC110121310, LOC123956174, LOC126860086, LOC126860087, LOC126860088, LOC126860089, LOC126860090, LOC126860091, LOC129998724, LOC129998725, LOC129998726, LOC129998727, LOC129998728, LOC129998729, LOC129998730, LOC129998731, LOC129998732, LOC129998733, LOC129998734, LOC132089506, PCLO, SEMA3A, SEMA3E 0 1 0 0 1
CALM1 0 1 0 0 1
EFEMP1 1 0 0 0 1
GPR143 0 1 0 0 1
LAMA1 0 1 0 0 1
LOC114827850, MYL2 0 1 0 0 1
LOX, SRFBP1 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
WDR26 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Marfan syndrome 172 352 175 14 712
Hypertrophic cardiomyopathy 4 5 4 0 0 9
Retinitis pigmentosa 0 4 2 0 6
Arterial tortuosity 5 0 0 0 5
Brittle cornea syndrome 1 2 3 0 0 5
Brittle cornea syndrome 2 2 3 0 0 5
Brugada syndrome 1 0 4 0 0 4
Blepharophimosis, ptosis, and epicanthus inversus syndrome 3 0 0 0 3
Catecholaminergic polymorphic ventricular tachycardia 1 1 2 0 0 3
Bloom syndrome 2 0 0 0 2
Dilated cardiomyopathy 1D 1 0 1 0 2
Hypertrophic cardiomyopathy 1 1 1 0 0 2
Long QT syndrome 1 0 2 0 0 2
Long QT syndrome 2 0 2 0 0 2
Seizure; Intellectual disability 0 2 0 0 2
Stickler syndrome 2 0 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 0 0 1
Atrial septal defect 7 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 4 0 1 0 0 1
Cutis laxa 1 0 0 0 1
Cutis laxa; Generalized arterial tortuosity 0 1 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
Hypertrophic cardiomyopathy 10 0 1 0 0 1
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
See cases 0 1 0 0 1
Skraban-Deardorff syndrome 0 1 0 0 1
Vitelliform macular dystrophy 2 1 0 0 0 1

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