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.9646C>T (p.Gln3216Ter)	PKHD1	Pathogenic	6	51612768	51612768	G	A	criteria provided, single submitter	ClinGen:CA3851359
single nucleotide variant	NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	PKHD1	Pathogenic/Likely pathogenic	6	51656157	51656157	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851664
single nucleotide variant	NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51893051	51893051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA364440564
single nucleotide variant	NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	PKHD1	Pathogenic/Likely pathogenic	6	51924836	51924836	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3853636
single nucleotide variant	NM_001009944.3(PKD1):c.10961T>A (p.Leu3654His)	PKD1	Likely pathogenic	16	2143600	2143600	A	T	criteria provided, single submitter	-
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
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.616C>T (p.Arg206Ter)	DNAJB11	Pathogenic	3	186299800	186299800	C	T	criteria provided, multiple submitters, no conflicts	OMIM:611341.0005
single nucleotide variant	NM_138694.4(PKHD1):c.11785+1G>T	PKHD1	Likely pathogenic	6	51491794	51491794	C	A	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)	PKHD1	Pathogenic/Likely pathogenic	6	51503715	51503715	GA	G	criteria provided, multiple submitters, no conflicts	-