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.3814_3844del (p.Trp1272fs)	PKHD1	Likely pathogenic	6	51890764	51890794	GGACCACGGGCGAAGAACCTGTTGCCAGCCCA	G	criteria provided, single submitter	-
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.10561_10562del (p.Gln3521fs)	PKHD1	Likely pathogenic	6	51524362	51524363	CTG	C	criteria provided, single submitter	-
Duplication	NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs)	PKHD1	Likely pathogenic	6	51524400	51524401	G	GA	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.10411del (p.Val3471fs)	PKHD1	Pathogenic/Likely pathogenic	6	51524513	51524513	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.2822-1G>C	PKHD1	Likely pathogenic	6	51907933	51907933	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.2715+1G>C	PKHD1	Likely pathogenic	6	51909763	51909763	C	G	criteria provided, single submitter	-
Duplication	NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs)	PKHD1	Likely pathogenic	6	51921562	51921563	G	GTAAC	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.7912-2A>G	PKHD1	Likely pathogenic	6	51712770	51712770	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.603-1G>A	PKHD1	Likely pathogenic	6	51935869	51935869	C	T	criteria provided, single submitter	-