ClinVar Miner

Variants from Centre of Medical Genetics, University of Antwerp

Location: Belgium  Primary collection method: research
Minimum submission review status: Collection method:
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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
227 135 55 0 0 414

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
FBN1 164 107 14 285
NOTCH1 8 2 7 17
DLL4 12 1 3 15
SMAD6 4 1 4 9
CTR9 0 6 2 8
IPO8 8 0 0 8
FBN1, LOC126862124 6 1 0 7
LOX, SRFBP1 4 0 1 5
EOGT 4 0 0 4
TBX20 0 0 4 4
TGFBR2 0 2 2 4
BGN 3 1 1 3
CTR9, LOC126861140 0 3 0 3
FLNA 0 0 3 3
ATP2B3, BGN, LOC130068823, LOC130068824 2 0 0 2
DOCK6 0 0 2 2
FBN1, LOC113939944 0 2 0 2
JAG1 0 2 0 2
KCNMA1 1 1 0 2
LOC126860794, NOTCH1 0 0 2 2
RBPJ 0 2 0 2
SCN5A 1 1 0 2
ABCC6, NOMO3 0 0 1 1
ACTA2 0 0 1 1
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AC25, H2BC26, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 1
ARHGAP31 1 0 0 1
CCDC116, GGTLC2, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3C, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 1 0 0 1
CEP57 1 0 0 1
COL2A1 1 0 0 1
DES 1 0 0 1
DGCR6, PRODH, USP18 0 0 1 1
DPY19L1, NPSR1, TBX20 0 0 1 1
DSG2 0 1 0 1
ELAC2 1 0 0 1
FBN3 0 0 1 1
FGFR4, LMAN2, MXD3, NSD1, PRELID1, RAB24 1 0 0 1
HNRNPH1, LOC128966623 0 1 0 1
KCNQ1, KCNQ1OT1 0 0 1 1
KLF12 0 0 1 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 1
LOC126807011, RBPJ 0 1 0 1
RNASEH2B 1 0 0 1
SAMHD1 1 0 0 1
SMAD3 0 0 1 1
ZNF626 0 0 1 1

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance total
Marfan syndrome 170 110 14 294
Adams-Oliver syndrome 5 8 2 9 19
Aortic valve disease 1 3 1 15 19
CTR9-related neurodevelopmental disorder 0 9 2 11
Adams-Oliver syndrome 9 0 0 9
IPO8-related aortopathy 8 0 0 8
Adams-Oliver syndrome 6 3 1 3 7
Familial thoracic aortic aneurysm and aortic dissection 5 1 0 6
Aortic aneurysm, familial thoracic 10 4 0 1 5
Adams-Oliver syndrome 4 4 0 0 4
Loeys-Dietz syndrome 2 0 2 2 4
Adams-Oliver syndrome 3 0 3 0 3
Heterotopia, periventricular, X-linked dominant 0 0 3 3
Adams-Oliver syndrome 2 0 0 2 2
Brugada syndrome 1 1 0 2
Cerebral palsy 2 0 0 2
Craniosynostosis 7 2 0 0 2
Meester-Loeys syndrome 0 1 1 2
Sudden cardiac death 0 1 1 2
5q35 microduplication syndrome 1 0 0 1
Adams-Oliver syndrome 1 1 0 0 1
Alagille syndrome due to a JAG1 point mutation 0 1 0 1
Aneurysm-osteoarthritis syndrome 0 0 1 1
Aortic aneurysm, familial thoracic 6 0 0 1 1
Chromosome 22q11.2 deletion syndrome, distal 1 0 0 1
Combined oxidative phosphorylation defect type 17 1 0 0 1
Desmin-related myofibrillar myopathy 1 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 0 1 0 1
KCNMA1-related disorders 1 0 0 1
Liang-Wang syndrome 0 1 0 1
Mosaic variegated aneuploidy syndrome 2 1 0 0 1
Type 2 collagenopathy 1 0 0 1

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