ClinVar Miner

List of variants in gene PKD2 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000297.4(PKD2):c.1807dup (p.Met603fs)
NM_000297.4(PKD2):c.1898+5G>A rs1553926929
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2246_2247insGCCATACTGG (p.His750fs)
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter)
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.691dup (p.Leu231fs) rs1553924174
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer)
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.