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
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
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
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.2019+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88979256	88979256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357623301
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.1898+5G>A	PKD2	Pathogenic/Likely pathogenic	4	88977424	88977424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657394
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	NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)	PKD2	Pathogenic	4	88973262	88973269	TACAGTTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657393
Duplication	NM_000297.4(PKD2):c.1668dup (p.Gln557fs)	PKD2	Pathogenic/Likely pathogenic	4	88973261	88973262	T	TA	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	-