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_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	GANAB	Likely pathogenic	11	62394105	62394105	G	A	criteria provided, single submitter	ClinGen:CA10586211,OMIM:104160.0005
Deletion	NM_198334.3(GANAB):c.2624+2_2624+7del	GANAB	Pathogenic	11	62393800	62393805	CCCATTA	C	criteria provided, single submitter	ClinGen:CA10586210,OMIM:104160.0004
Deletion	NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)	GANAB	Pathogenic	11	62396753	62396754	CCT	C	criteria provided, single submitter	ClinGen:CA10586208,OMIM:104160.0002
single nucleotide variant	NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)	DZIP1L	Pathogenic	3	137822351	137822351	G	A	criteria provided, single submitter	ClinGen:CA354681055,OMIM:617570.0003
single nucleotide variant	NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)	DNAJB11	Pathogenic	3	186299800	186299800	C	T	criteria provided, multiple submitters, no conflicts	OMIM:611341.0005
single nucleotide variant	NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)	DNAJB11	Likely pathogenic	3	186293633	186293633	T	C	criteria provided, single submitter	OMIM:611341.0004
single nucleotide variant	NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)	DNAJB11	Likely pathogenic	3	186289976	186289976	C	G	criteria provided, single submitter	OMIM:611341.0001