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
85 50 81 29 5 12 261

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKHD1 8 8 24 11 0 0 51
PKD1 25 13 8 0 0 4 50
SEC63 20 6 2 0 0 0 28
LRP5 0 2 8 4 0 8 21
GANAB 6 3 4 0 5 0 18
PKD2 7 3 5 1 0 0 16
PRKCSH 4 4 3 2 0 0 13
LRP6 0 1 9 2 0 0 12
ALG8 7 1 1 0 0 0 9
CDC25A 0 1 1 2 0 0 4
ONECUT2 0 0 4 0 0 0 4
DKK3 0 2 1 0 0 0 3
HNF1B 0 0 2 1 0 0 3
HNF4A 0 1 2 0 0 0 3
LOC130067168, XBP1 0 0 0 3 0 0 3
TMEM199 3 0 0 0 0 0 3
CTNNB1 0 1 0 1 0 0 2
DKK3, LOC130005346 0 0 2 0 0 0 2
LOC129992813, PKD2 2 0 0 0 0 0 2
ONECUT1 0 0 2 0 0 0 2
RUVBL1, SEC61A1 0 1 1 0 0 0 2
CCDC115 1 0 0 0 0 0 1
CCDC115, IMP4, MZT2B, PTPN18, SMPD4, TUBA3E 1 0 0 0 0 0 1
CCDC115, LOC129934769 1 0 0 0 0 0 1
CTNNB1, LOC126806659 0 1 0 0 0 0 1
HHEX, LOC130004359 0 0 1 0 0 0 1
HNF1B, LOC126862549 0 0 1 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 1
LOC130063575, PRKCSH 0 1 0 0 0 0 1
NF2 0 0 0 1 0 0 1
SEC61A2 0 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant polycystic liver disease 41 35 59 28 5 0 168
Autosomal dominant polycystic kidney disease 36 15 22 1 0 0 74
Polycystic kidney disease, adult type 0 0 0 0 0 8 8
Congenital disorders of glycosylation type II 6 0 0 0 0 0 6
Polycystic liver disease 1 2 0 0 0 0 4 6

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