ClinVar Miner

Variants from Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center

Location: Netherlands — 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 not provided total
14 3 2 0 0 12 31

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
GANAB 6 3 2 0 11
LRP5 0 0 0 8 8
PKD1 0 0 0 3 3
TMEM199 3 0 0 0 3
CCDC115 2 0 0 0 2
SEC63 2 0 0 0 2
CCDC115, IMP4, MZT2B, PTPN18, SMPD4, TUBA3E 1 0 0 0 1
LOC105371049, PKD1 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance not provided total
Polycystic kidney disease, adult type 0 0 0 8 8
Polycystic liver disease 5 3 0 0 8
Congenital disorders of glycosylation type II 6 0 0 0 6
Polycystic liver disease 1 2 0 0 4 6
Polycystic kidney disease, autosomal dominant 1 0 2 0 3

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