ClinVar Miner

Variants from Institute of Human Genetics,University Medical Center Hamburg-Eppendorf

Location: Germany — 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
20 21 0 0 0 41

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic total
FBN1 14 9 23
SMAD3 1 4 5
CHAMP1 4 0 4
MYH11 0 2 2
TGFBR1 0 2 2
AP4B1 1 0 1
COL3A1 0 1 1
FBN2 0 1 1
LOX 0 1 1
TGFBR2 0 1 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic total
Marfan syndrome 12 6 18
Thoracic aortic aneurysm and aortic dissection 3 11 14
intellectual disability with severe speech impairment 4 0 4
Congenital contractural arachnodactyly 0 1 1
Ehlers-Danlos syndrome, classic type 0 1 1
Ehlers-Danlos syndrome, type 4 0 1 1
Spastic paraplegia 47, autosomal recessive 1 0 1
Visceral myopathy 0 1 1

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