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.7912-1G>A	PKHD1	Likely pathogenic	6	51712769	51712769	C	T	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs)	PKHD1	Likely pathogenic	6	51890764	51890794	GGACCACGGGCGAAGAACCTGTTGCCAGCCCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.8950+1G>T	PKHD1	Likely pathogenic	6	51617998	51617998	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)	PKHD1	Pathogenic	6	51776704	51776704	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)	PKHD1	Likely pathogenic	6	51613301	51613301	TA	T	criteria provided, single submitter	-
Duplication	NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)	PKHD1	Likely pathogenic	6	51612882	51612883	C	CAA	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.6490+1G>A	PKHD1	Likely pathogenic	6	51776596	51776596	C	T	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer)	PKHD1	Likely pathogenic	6	51524189	51524189	AC	A	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)	PKHD1	Pathogenic	6	51750758	51750758	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.8303-2A>G	PKHD1	Likely pathogenic	6	51656173	51656173	T	C	criteria provided, single submitter	-