C2751306[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029780	NM_000297.4(PKD2):c.697G>A (p.Val233Ile)	PKD2 (V233I)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 636770	NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	PKD2 (R361*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 1177418	NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)	PKD2 (Q613*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic/Likely pathogenic
Select item 2010145	NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)	PKD2 (Q622*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 3064871	NM_000297.4(PKD2):c.2118+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3064869	NM_000297.4(PKD2):c.2118+1G>T	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GUncertain significance

ClinVar