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
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.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.2533C>T (p.Arg845Ter)	PKD2	Pathogenic	4	88995974	88995974	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004284
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.2019+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88979256	88979256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357623301
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.1774C>T (p.Arg592Ter)	PKD2	Pathogenic	4	88977295	88977295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357622723
Deletion	NC_000004.12:g.(?_88007714)_(88058123_?)del	PKD2	Pathogenic	4	88928866	88979275	na	na	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.2020-1_2020del	PKD2	Pathogenic/Likely pathogenic	4	88983056	88983057	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657395
single nucleotide variant	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2	Pathogenic	4	88996055	88996055	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004304