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
Duplication	NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)	PKHD1	Likely pathogenic	6	51524724	51524725	C	CA	criteria provided, single submitter	ClinGen:CA16041028
Deletion	NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs)	PKHD1	Likely pathogenic	6	51524734	51524738	TTGGTA	T	criteria provided, single submitter	ClinGen:CA3851132
Duplication	NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter)	PKHD1	Likely pathogenic	6	51611657	51611658	C	CAACT	criteria provided, single submitter	ClinGen:CA16041030
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.9470_9473dup (p.Met3158fs)	PKHD1	Likely pathogenic	6	51612940	51612941	C	CATGG	criteria provided, single submitter	ClinGen:CA16041033
Deletion	NM_138694.4(PKHD1):c.8958del (p.Gln2987fs)	PKHD1	Likely pathogenic	6	51613456	51613456	GA	G	criteria provided, single submitter	ClinGen:CA16041034
Deletion	NM_138694.4(PKHD1):c.8832del (p.Arg2945fs)	PKHD1	Likely pathogenic	6	51618117	51618117	GA	G	criteria provided, single submitter	ClinGen:CA16041035
Deletion	NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs)	PKHD1	Likely pathogenic	6	51619614	51619615	CCT	C	criteria provided, single submitter	ClinGen:CA3851539
Deletion	NM_138694.4(PKHD1):c.8162del (p.Pro2721fs)	PKHD1	Likely pathogenic	6	51701213	51701213	TG	T	criteria provided, single submitter	ClinGen:CA16041036
single nucleotide variant	NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)	PKHD1	Likely pathogenic	6	51712630	51712630	G	A	criteria provided, single submitter	ClinGen:CA16041037