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.1668dup (p.Gln557fs)	PKD2	Pathogenic/Likely pathogenic	4	88973261	88973262	T	TA	criteria provided, multiple submitters, no conflicts	-
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
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
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.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.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.2020-1_2020del	PKD2	Pathogenic/Likely pathogenic	4	88983056	88983057	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657395
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.2159del (p.Asn720fs)	PKD2	Pathogenic	4	88986559	88986559	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004147
single nucleotide variant	NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter)	PKD2	Likely pathogenic	4	88986604	88986604	G	T	criteria provided, single submitter	-