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.8555-2A>G	PKHD1	Pathogenic/Likely pathogenic	6	51637589	51637589	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.8107+1G>C	PKHD1	Likely pathogenic	6	51712572	51712572	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)	PKHD1	Pathogenic	6	51890191	51890191	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer)	PKHD1	Likely pathogenic	6	51890665	51890665	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.7350+653A>G	PKHD1	Pathogenic/Likely pathogenic	6	51747238	51747238	T	C	criteria provided, multiple submitters, no conflicts	OMIM:606702.0009
single nucleotide variant	NM_138694.4(PKHD1):c.3228+1G>T	PKHD1	Pathogenic/Likely pathogenic	6	51900388	51900388	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)	PKHD1	Likely pathogenic	6	51907900	51907900	C	G	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs)	PKHD1	Likely pathogenic	6	51777180	51777196	AGATAGAGGTCTGTATCC	A	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs)	PKHD1	Likely pathogenic	6	51913345	51913351	TTGTCCGC	T	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.2141-2A>C	PKHD1	Likely pathogenic	6	51915095	51915095	T	G	criteria provided, single submitter	-