ClinVar Miner

Variants from Centre for Genomic and Experimental Medicine,University of Edinburgh

Location: United Kingdom — 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 other total
28 37 8 5 0 6 84

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign other total
FBN1 9 11 0 0 0 20
NEK1 0 6 4 5 3 18
TBK1 0 2 2 0 3 7
SOD1 4 1 0 0 0 5
COL3A1 2 2 0 0 0 4
OPTN 1 1 1 0 0 3
TARDBP 2 0 1 0 0 3
TGFBR2 2 1 0 0 0 3
COL1A1 0 2 0 0 0 2
COL5A2 0 2 0 0 0 2
EVC2 2 0 0 0 0 2
FRAS1 2 0 0 0 0 2
MYH11, NDE1 0 2 0 0 0 2
MYLK 0 2 0 0 0 2
SLC2A10 1 1 0 0 0 2
TGFBR1 1 1 0 0 0 2
COL5A1 0 1 0 0 0 1
FBN1, LOC113939944 1 0 0 0 0 1
LOC108903148, OPTN 0 1 0 0 0 1
MYH11 0 1 0 0 0 1
TBX20 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign other total
Thoracic aortic aneurysm and aortic dissection 16 26 0 0 0 42
Motor neuron disease 7 11 8 5 6 37
Chondroectodermal dysplasia 2 0 0 0 0 2
Cryptophthalmos syndrome 2 0 0 0 0 2
Hypoplastic left heart syndrome 1 0 0 0 0 1
Hypoplastic right heart syndrome 1 0 0 0 0 1
Wolff-Parkinson-White pattern 1 0 0 0 0 1

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