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_001009944.3(PKD1):c.1198C>T (p.Arg400Ter)	PKD1	Pathogenic	16	2167795	2167795	G	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr)	PKD1	Likely pathogenic	16	2161277	2161278	C	CGTG	criteria provided, single submitter	-
single nucleotide variant	NM_198334.3(GANAB):c.181C>T (p.Arg61Ter)	GANAB	Pathogenic	11	62406902	62406902	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter)	PKD1	Pathogenic	16	2158582	2158582	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.7111del (p.Val2371fs)	PKD1	Pathogenic	16	2156904	2156904	AC	A	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)	PKD1	Likely pathogenic	16	2159474	2159475	C	CA	criteria provided, single submitter	-
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	-
Deletion	NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)	PKHD1	Pathogenic	6	51890123	51890123	TG	T	criteria provided, single submitter	-
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	-
Deletion	NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)	PKHD1	Pathogenic	6	51523969	51523969	TG	T	criteria provided, multiple submitters, no conflicts	-