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.340C>T (p.Gln114Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51944748	51944748	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)	PKD1	Pathogenic	16	2160862	2160862	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)	PKD1	Pathogenic	16	2152218	2152219	CAT	C	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_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)	PKD1	Pathogenic	16	2150418	2150418	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)	PKD1	Pathogenic	16	2160307	2160307	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)	PKD1	Pathogenic	16	2156600	2156600	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_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)	PKD1	Pathogenic	16	2159461	2159461	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)	PKD1	Pathogenic	16	2153360	2153360	G	A	criteria provided, multiple submitters, no conflicts	-