ClinVar Miner

Variants from Division of Biology and Genetics, University of Brescia

Location: Italy  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
19 2 0 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic total
ATP6V0A2 2 0 2
B3GALT6 2 0 2
B3GAT3 2 0 2
GGCX 2 0 2
PYCR1 2 0 2
AEBP1 1 0 1
B4GALT7 1 0 1
COL1A2 0 1 1
COL3A1 1 0 1
COL5A1 1 0 1
LOC126859827, TAB2 1 0 1
LTBP4 1 0 1
MAP3K7 1 0 1
NBAS 0 1 1
PURA 1 0 1
TNXB 1 0 1

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic total
Autosomal recessive cutis laxa type 2B 2 0 2
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 2 0 2
Cutis laxa with osteodystrophy 2 0 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2 2 0 2
Larsen-like syndrome, B3GAT3 type 2 0 2
Cardiospondylocarpofacial syndrome 1 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 1 1
Congenital heart defects, multiple types, 2 1 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 1 0 1
Ehlers-Danlos syndrome progeroid type 1 0 1
Ehlers-Danlos syndrome, classic type 1 0 1
Ehlers-Danlos syndrome, classic type, 1 1 0 1
Ehlers-Danlos syndrome, type 4 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 1
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome; Infantile liver failure syndrome 2 0 1 1

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