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
Duplication	NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)	PKHD1	Pathogenic/Likely pathogenic	6	51890489	51890490	C	CA	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	-
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_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)	PKD1	Pathogenic/Likely pathogenic	16	2156907	2156907	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.6916-9G>A	PKD1	Pathogenic/Likely pathogenic	16	2158042	2158042	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	PKHD1	Pathogenic/Likely pathogenic	6	51910887	51910887	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51524574	51524574	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51611519	51611519	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51920447	51920447	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.390+1G>T	PKHD1	Pathogenic/Likely pathogenic	6	51944697	51944697	C	A	criteria provided, multiple submitters, no conflicts	-