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_138694.4(PKHD1):c.8107+1G>C	PKHD1	Likely pathogenic	6	51712572	51712572	C	G	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.8162del (p.Pro2721fs)	PKHD1	Likely pathogenic	6	51701213	51701213	TG	T	criteria provided, single submitter	ClinGen:CA16041036
Deletion	NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)	PKHD1	Pathogenic	6	51695771	51695771	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604549
Deletion	NC_000006.12:g.(?_51619071)_(51791383_?)del	PKHD1	Likely pathogenic	6	51483869	51656181	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.8303-2A>G	PKHD1	Likely pathogenic	6	51656173	51656173	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.8303-1G>A	PKHD1	Pathogenic	6	51656172	51656172	C	T	criteria provided, single submitter	ClinGen:CA334735
single nucleotide variant	NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	PKHD1	Pathogenic/Likely pathogenic	6	51656157	51656157	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851664
single nucleotide variant	NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)	PKHD1	Likely pathogenic	6	51656066	51656066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224101
single nucleotide variant	NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	PKHD1	Pathogenic/Likely pathogenic	6	51640642	51640642	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.8555-2A>G	PKHD1	Pathogenic/Likely pathogenic	6	51637589	51637589	T	C	criteria provided, multiple submitters, no conflicts	-