ClinVar Miner

Variants from Department of Vascular Biology, Beijing Anzhen Hospital

Location: China  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
0 56 43 0 0 99

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination likely pathogenic uncertain significance total
FBN1 46 16 62
TGFBR2 3 2 5
COL3A1 0 4 4
MYH11, NDE1 0 4 4
ACTA2 1 2 3
FBN1, LOC113939944 2 1 3
MYH11 0 3 3
SKI 0 3 3
FBN1, LOC126862124 1 1 2
MAT2A 0 2 2
SMAD3 1 1 2
TGFBR1 0 2 2
LOC126861443, MFAP5 1 0 1
MYLK 1 0 1
SMAD4 0 1 1
TGFB2 0 1 1

Condition and significance breakdown #

Total conditions: 1
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Condition likely pathogenic uncertain significance total
Isolated thoracic aortic aneurysm 56 43 99

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