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.5751+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51875106	51875106	C	T	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51909777	51909777	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)	PKD1	Pathogenic/Likely pathogenic	16	2161213	2161213	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	PKD1	Pathogenic/Likely pathogenic	16	2139949	2139949	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.1548+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88968023	88968023	G	A	criteria provided, multiple submitters, no conflicts	-
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.1249C>T (p.Arg417Ter)	PKD2	Pathogenic/Likely pathogenic	4	88964539	88964539	C	T	criteria provided, multiple submitters, no conflicts	-
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	-
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	-