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.6029del (p.Gln2010fs)	PKHD1	Pathogenic	6	51799000	51799000	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51944748	51944748	G	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs)	PKHD1	Likely pathogenic	6	51824680	51824681	G	GGT	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.53-1G>A	PKHD1	Likely pathogenic	6	51948054	51948054	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.708-1G>A	PKHD1	Likely pathogenic	6	51934326	51934326	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)	PKHD1	Likely pathogenic	6	51927340	51927340	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.707+2T>C	PKHD1	Likely pathogenic	6	51935202	51935202	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.708-2A>C	PKHD1	Likely pathogenic	6	51934327	51934327	T	G	criteria provided, single submitter	-
Duplication	NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)	PKHD1	Pathogenic	6	51927366	51927367	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)	PKHD1	Pathogenic/Likely pathogenic	6	51923236	51923236	C	T	criteria provided, multiple submitters, no conflicts	-