多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)	PKD2	Pathogenic	4	88995967	88995967	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.596-1G>T	PKD2	Pathogenic	4	88940609	88940609	G	T	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.443del (p.Gly148fs)	PKD2	Pathogenic	4	88929326	88929326	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)	PKD2	Pathogenic	4	88967799	88967799	T	A	criteria provided, single submitter	-
Deletion	NC_000004.12:g.(?_88007714)_(88075714_?)del	PKD2	Pathogenic	4	88928866	88996866	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	PKD2	Pathogenic	4	88959517	88959517	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000297.4(PKD2):c.538dup (p.Leu180fs)	PKD2	Pathogenic	4	88929418	88929419	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)	PKD2	Pathogenic	4	88986959	88986959	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.1548+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88968023	88968023	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.2241-2A>G	PKD2	Pathogenic/Likely pathogenic	4	88986912	88986912	A	G	criteria provided, multiple submitters, no conflicts	-