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	NC_000004.12:g.(?_88007714)_(88058123_?)del	PKD2	Pathogenic	4	88928866	88979275	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)	PKD2	Pathogenic	4	88977295	88977295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357622723
Duplication	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	PKD2	Pathogenic	4	88929082	88929083	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657390,OMIM:173910.0007
single nucleotide variant	NM_000297.4(PKD2):c.2019+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88979256	88979256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357623301
Deletion	NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)	PKD2	Pathogenic	4	88986956	88986959	AGTAC	A	criteria provided, single submitter	ClinGen:CA658796448
single nucleotide variant	NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)	PKD2	Pathogenic	4	88995974	88995974	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004284
single nucleotide variant	NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	PKD2	Pathogenic	4	88940651	88940651	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575461
single nucleotide variant	NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)	PKD2	Pathogenic/Likely pathogenic	4	88964539	88964539	C	T	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	-
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	-