C2751306[trait identifier] AND "Cavalleri Lab, Royal College of Surgeo - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873388	NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)	LOC129992813, PKD2 (P67fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 873403	NM_000297.4(PKD2):c.405del (p.Ala136fs)	LOC129992813, PKD2 (A136fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 873375	NM_000297.4(PKD2):c.602G>A (p.Trp201Ter)	PKD2 (W201*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 873389	NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter)	PKD2 (Y248*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 448039	NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	PKD2 (R322W)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +4 more	GPathogenic/Likely pathogenic
Select item 873387	NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)	PKD2 (R325Q)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 873383	NM_000297.4(PKD2):c.982_984del (p.Asn328del)	PKD2 (N328del)	Deletion (inframe_deletion +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 280008	NM_000297.4(PKD2):c.1094+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 873386	NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg)	PKD2 (G449R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 873381	NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter)	PKD2 (E494*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 873343	NM_000297.4(PKD2):c.1551del (p.Ser518fs)	PKD2 (S518fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 449307	NM_000297.4(PKD2):c.2020-1_2020del	PKD2	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 562296	NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)	PKD2 (Y762*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 873384	NM_000297.4(PKD2):c.2378_2384del (p.His793fs)	PKD2 (H793fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 448036	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2 (R872*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic