"Institute of Human Genetics, Cologne University"[submitter] AND "PKD2 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172839	NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)	PKD2 (L258P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3024183	NM_000297.4(PKD2):c.1031_1032delinsTA (p.Cys344Leu)	PKD2 (C344L)	Indel (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 431056	NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter)	PKD2 (Y486*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 559506	NM_000297.4(PKD2):c.1492C>T (p.His498Tyr)	PKD2 (H498Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 625136	NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs)	PKD2 (D541fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 1328375	NM_000297.4(PKD2):c.1903A>C (p.Thr635Pro)	PKD2 (T635P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 403719	NM_000297.4(PKD2):c.2534G>C (p.Arg845Pro)	PKD2 (R845P)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance

ClinVar