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.4616G>A (p.Trp1539Ter)	PKD1	Pathogenic	16	2160552	2160552	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)	PKD1	Pathogenic/Likely pathogenic	16	2160617	2160617	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter)	PKD1	Pathogenic/Likely pathogenic	16	2160721	2160721	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)	PKD1	Pathogenic	16	2161098	2161098	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs)	PKD1	Likely pathogenic	16	2164403	2164406	GCAGA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter)	PKD1	Likely pathogenic	16	2165464	2165464	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)	PKD1	Likely pathogenic	16	2167896	2167896	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)	PKD1	Pathogenic/Likely pathogenic	16	2168794	2168794	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.7109+3A>C	PKHD1	Likely pathogenic	6	51751928	51751928	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.2279+5G>A	PKHD1	Likely pathogenic	6	51914950	51914950	C	T	criteria provided, single submitter	-