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.3296-1G>C	PKD1	Pathogenic	16	2161873	2161873	C	G	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.3247_3253del (p.Ala1083fs)	PKD1	Pathogenic	16	2162383	2162389	ACCTGGGC	A	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.2867dup (p.Val957fs)	PKD1	Pathogenic	16	2163279	2163280	C	CA	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs)	PKD1	Likely pathogenic	16	2164195	2164220	GGGCCTCGGGGCTGGGCGTGGCGCGGA	G	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.2677_2678del (p.Leu893fs)	PKD1	Pathogenic	16	2164346	2164347	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter)	PKD1	Likely pathogenic	16	2164755	2164755	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.3G>A (p.Met1Ile)	PKD1	Pathogenic	16	2185688	2185688	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)	GANAB	Likely pathogenic	11	62394111	62394111	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter)	PKD1	Pathogenic	16	2158362	2158362	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)	PKHD1	Pathogenic	6	51612687	51612687	AT	A	criteria provided, single submitter	-