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.2407C>T (p.Arg803Ter)	PKD2	Pathogenic	4	88989098	88989098	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter)	PKD2	Likely pathogenic	4	88986978	88986978	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)	PKD2	Pathogenic	4	88986959	88986959	C	A	criteria provided, multiple submitters, no conflicts	-
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.2241-2A>G	PKD2	Pathogenic/Likely pathogenic	4	88986912	88986912	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.2240+1G>A	PKD2	Pathogenic	4	88986648	88986648	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA357624779
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.2197G>T (p.Gly733Ter)	PKD2	Likely pathogenic	4	88986604	88986604	G	T	criteria provided, single submitter	-
Deletion	NM_000297.4(PKD2):c.2159del (p.Asn720fs)	PKD2	Pathogenic	4	88986559	88986559	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3004147
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