ClinVar Miner

Variants from (GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)

Location: Spain  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
22 12 0 0 0 34

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic total
PKD1 17 8 25
PKD2 4 2 6
COL4A4 0 1 1
FAM13A, PKD2 1 0 1
LOC129992813, PKD2 0 1 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic total
Polycystic kidney disease, adult type 17 8 25
Polycystic kidney disease 2 5 3 8
Autosomal dominant Alport syndrome 0 1 1

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