List of variants in gene PKD2 reported as pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	rs1578130676	0.00001
NM_000297.4(PKD2):c.1094+1G>A	rs58606740	0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)	rs1324209174	0.00001
NM_000297.4(PKD2):c.1319+1G>A	rs1131692280	0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)	rs369678636	0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	rs1302726543	0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	rs1553925453	0.00001
NM_000297.4(PKD2):c.1094+1G>C	rs58606740
NM_000297.4(PKD2):c.1094+3_1094+6del	rs1553925470
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter)	rs924484889
NM_000297.4(PKD2):c.1322dup (p.Leu441fs)	rs1727782355
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	rs121918042
NM_000297.4(PKD2):c.1445del (p.Phe482fs)	rs1578135940
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter)	rs1720124087
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter)	rs1720126853
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter)	rs1720127024
NM_000297.4(PKD2):c.1704dup (p.Val569fs)	rs1720128947
NM_000297.4(PKD2):c.1716+2T>A	rs1720129561
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)	rs1553926905
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs)	rs1720325828
NM_000297.4(PKD2):c.1986del (p.Thr663fs)	rs1720430411
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs)	rs1720431219
NM_000297.4(PKD2):c.2020-1_2020del	rs1553927436
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)	rs757757289
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter)	rs770308463
NM_000297.4(PKD2):c.2240+1G>C	rs1553927783
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter)	rs555242193
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)	rs778235410
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)	rs1560632930
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	rs755226061
NM_000297.4(PKD2):c.642_643dup (p.Lys215fs)	rs1726676402
NM_000297.4(PKD2):c.662del (p.Leu221fs)	rs1726677278
NM_000297.4(PKD2):c.670del (p.Leu224fs)	rs1553924173
NM_000297.4(PKD2):c.709+1G>A	rs398123308
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter)	rs1578129049
NM_000297.4(PKD2):c.843+1G>A	rs1727333593
NM_000297.4(PKD2):c.844-2A>G	rs1727412388
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs)	rs1727412539
NM_000297.4(PKD2):c.860_861insG (p.Leu288fs)	rs1727413597
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	rs749004212

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