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_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)	DZIP1L	Pathogenic	3	137822351	137822351	G	A	criteria provided, single submitter	ClinGen:CA354681055,OMIM:617570.0003
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_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.616C>T (p.Arg206Ter)	DNAJB11	Pathogenic	3	186299800	186299800	C	T	criteria provided, multiple submitters, no conflicts	OMIM:611341.0005
single nucleotide variant	NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)	PKD2	Pathogenic	4	88964429	88964429	G	A	criteria provided, single submitter	ClinGen:CA123158,OMIM:173910.0001
single nucleotide variant	NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)	PKD2	Pathogenic	4	88986631	88986631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123160,OMIM:173910.0002
single nucleotide variant	NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	PKD2	Pathogenic	4	88967864	88967864	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123164,OMIM:173910.0005
Duplication	NM_000297.4(PKD2):c.2159dup (p.Asn720fs)	PKD2	Pathogenic	4	88986558	88986559	G	GA	criteria provided, multiple submitters, no conflicts	OMIM:173910.0006
single nucleotide variant	NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys)	PKD2	Likely pathogenic	4	88979142	88979142	C	A	criteria provided, single submitter	ClinGen:CA220615
single nucleotide variant	NM_000297.4(PKD2):c.709+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88940724	88940724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220617