ClinVar Miner

Variants from Centre of Medical Genetics, University of Antwerp

Location: Belgium — Primary collection method: research
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
38 6 25 0 0 68

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NOTCH1 8 2 9 19
DLL4 12 1 3 15
SMAD6 7 0 0 7
EOGT 4 0 0 4
TBX20 0 0 4 4
BGN 3 0 0 3
RBPJ 0 3 0 3
ATP2B3, BGN 2 0 0 2
DOCK6 0 0 2 2
ABCC6, NOMO3 0 0 1 1
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AW, H2BU1, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 1
ARHGAP31 1 0 0 1
DGCR6, PRODH, USP18 0 0 1 1
DPY19L1, NPSR1, TBX20 0 0 1 1
FBN3 0 0 1 1
KLF12 0 0 1 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 1
ZNF626 0 0 1 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance total
Adams-Oliver syndrome 5 8 2 9 19
Aortic valve disorder 8 0 11 19
Adams-Oliver syndrome 9 0 0 9
Adams-Oliver syndrome 6 3 1 3 7
Thoracic aortic aneurysm and aortic dissection 5 0 0 5
Adams-Oliver syndrome 4 4 0 0 4
Adams-Oliver syndrome 3 0 3 0 3
Adams-Oliver syndrome 2 0 0 2 2
Adams-Oliver syndrome 1 1 0 0 1

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