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
Deletion	NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	PKHD1	Pathogenic	6	51612725	51612725	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224113
single nucleotide variant	NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51612696	51612696	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041031
single nucleotide variant	NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	PKHD1	Pathogenic/Likely pathogenic	6	51612695	51612695	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs)	PKHD1	Pathogenic	6	51612690	51612691	C	CA	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.9727del (p.Ile3243fs)	PKHD1	Pathogenic	6	51612687	51612687	AT	A	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.9743del (p.Phe3248fs)	PKHD1	Likely pathogenic	6	51612671	51612671	GA	G	criteria provided, single submitter	ClinGen:CA3851347
Duplication	NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)	PKHD1	Likely pathogenic	6	51611657	51611658	C	CAACT	criteria provided, single submitter	ClinGen:CA16041030
single nucleotide variant	NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)	PKHD1	Likely pathogenic	6	51611640	51611640	C	T	criteria provided, single submitter	ClinGen:CA16612174
single nucleotide variant	NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51611616	51611616	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3851295
single nucleotide variant	NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51611519	51611519	C	G	criteria provided, multiple submitters, no conflicts	-