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_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)	DNAJB11	Pathogenic	3	186299800	186299800	C	T	criteria provided, multiple submitters, no conflicts	OMIM:611341.0005
single nucleotide variant	NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)	DNAJB11	Likely pathogenic	3	186293633	186293633	T	C	criteria provided, single submitter	OMIM:611341.0004
single nucleotide variant	NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)	DNAJB11	Likely pathogenic	3	186289976	186289976	C	G	criteria provided, single submitter	OMIM:611341.0001
single nucleotide variant	NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)	DZIP1L	Pathogenic	3	137822351	137822351	G	A	criteria provided, single submitter	ClinGen:CA354681055,OMIM:617570.0003
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.2614C>T (p.Arg872Ter)	PKD2	Pathogenic	4	88996055	88996055	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004304
Duplication	NM_000297.4(PKD2):c.2568dup (p.Val857fs)	PKD2	Likely pathogenic	4	88996008	88996009	T	TA	criteria provided, single submitter	-
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.2527del (p.Leu842_Val843insTer)	PKD2	Pathogenic	4	88995967	88995967	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000297.4(PKD2):c.2524del (p.Leu842fs)	PKD2	Pathogenic	4	88995964	88995964	GC	G	criteria provided, single submitter	ClinGen:CA645509148