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.3228+1G>T	PKHD1	Pathogenic/Likely pathogenic	6	51900388	51900388	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.7350+653A>G	PKHD1	Pathogenic/Likely pathogenic	6	51747238	51747238	T	C	criteria provided, multiple submitters, no conflicts	OMIM:606702.0009
single nucleotide variant	NM_138694.4(PKHD1):c.8555-2A>G	PKHD1	Pathogenic/Likely pathogenic	6	51637589	51637589	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51882360	51882360	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.1A>G (p.Met1Val)	PKHD1	Pathogenic/Likely pathogenic	6	51949731	51949731	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51949721	51949721	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609294	51609303	GGACTTGCACA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.390+1del	PKHD1	Pathogenic/Likely pathogenic	6	51944697	51944697	AC	A	criteria provided, multiple submitters, no conflicts	-
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.9370C>T (p.His3124Tyr)	PKHD1	Pathogenic/Likely pathogenic	6	51613044	51613044	G	A	criteria provided, multiple submitters, no conflicts	-