"3billion"[submitter] AND "PKD2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705707	NM_000297.4(PKD2):c.690del (p.Leu231fs)	PKD2 (L231fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 802079	NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)	PKD2 (R322Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2444048	NM_000297.4(PKD2):c.1026del (p.Glu343fs)	PKD2 (E343fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 477625	NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)	PKD2 (R592*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 1406344	NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr)	PKD2 (I644T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 1705606	NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)	PKD2 (S701*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic

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