ClinVar Miner

Variants from Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)

Location: Portugal — 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
4 4 10 0 0 18

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DNAH5 0 2 2 4
CCDC40 1 1 1 3
CCDC103 1 0 1 2
DNAH7 2 0 0 2
CCDC39, TTC14 0 0 1 1
CYBB 0 0 1 1
DNAH6 0 0 1 1
GAS8 0 0 1 1
INSL6 0 0 1 1
SPAG17 0 0 1 1
USP11 0 1 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance total
not provided 0 0 5 5
Kartagener syndrome 1 3 0 4
Ciliary dyskinesia, primary, 3 0 0 2 2
Primary ciliary dyskinesia; Situs inversus 2 0 0 2
Ciliary dyskinesia, primary, 15; sperm axonema without dynein arms and nexin bridges; axonemas with defects on microtubules 0 0 1 1
Dynein arm defect of respiratory motile cilia; Absent inner and outer dynein arms; Abnormal ciliary motility; Bronchiectasis 0 1 0 1
Fibrous Sheath Dysplasia 0 0 1 1
Primary ciliary dyskinesia; Absent inner and outer dynein arms; Situs inversus totalis 1 0 0 1
Primary ciliary dyskinesia; Recurrent bronchitis; Dynein arm defect of respiratory motile cilia 0 0 1 1

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