"Laboratory of Gastroenterology and Hepatology, Radboud University Med - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562301	NM_000297.4(PKD2):c.538dup (p.Leu180fs)	LOC129992813, PKD2 (L180fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 994725	NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)	LOC129992813, PKD2 (R186*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1255694	NM_000297.4(PKD2):c.605del (p.Gly202fs)	PKD2 (G202fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1255555	NM_000297.4(PKD2):c.620A>G (p.Glu207Gly)	PKD2 (E207G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely benign
Select item 1255534	NM_000297.4(PKD2):c.710-1G>A	PKD2	Single nucleotide variant (splice acceptor variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1255690	NM_000297.4(PKD2):c.843G>C (p.Lys281Asn)	PKD2 (K281N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1255691	NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)	PKD2 (L287*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1255693	NM_000297.4(PKD2):c.950G>A (p.Gly317Glu)	PKD2 (G317E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 1255695	NM_000297.4(PKD2):c.1027G>C (p.Glu343Gln)	PKD2 (E343Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1255685	NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)	PKD2 (Y368C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
Select item 1255687	NM_000297.4(PKD2):c.1205C>T (p.Thr402Ile)	PKD2 (T402I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255696	NM_000297.4(PKD2):c.1290C>A (p.Asn430Lys)	PKD2 (N430K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1255686	NM_000297.4(PKD2):c.1985del (p.Thr662fs)	PKD2 (T662fs)	Deletion (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1255689	NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)	PKD2 (K688E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
Select item 1255692	NM_000297.4(PKD2):c.2125del (p.His709fs)	PKD2 (H709fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1255684	NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)	PKD2 (Y836*)	Single nucleotide variant (nonsense +1 more)	PKD2-related condition +1 more	GPathogenic
Select item 1255533	NM_000297.4(PKD2):c.2584del (p.Ala862fs)	PKD2 (A862fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 1255535	NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe)	PKD2 (S949F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance