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
Deletion	NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)	PKHD1	Pathogenic	6	51890123	51890123	TG	T	criteria provided, single submitter	-
Indel	NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA	PKHD1	Pathogenic/Likely pathogenic	6	51768526	51768527	CT	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51491833	51491833	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)	PKHD1	Pathogenic/Likely pathogenic	6	51890489	51890490	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.383del (p.Thr128fs)	PKHD1	Pathogenic	6	51944705	51944705	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51523850	51523850	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)	PKHD1	Pathogenic	6	51612687	51612687	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.5751+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51875106	51875106	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.5953del (p.Ala1985fs)	PKHD1	Pathogenic	6	51799076	51799076	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	PKHD1	Pathogenic/Likely pathogenic	6	51612695	51612695	C	T	criteria provided, multiple submitters, no conflicts	-