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.10194del (p.Phe3398_Leu3399insTer)	PKHD1	Likely pathogenic	6	51524730	51524730	GA	G	criteria provided, single submitter	-
Duplication	NM_138694.4(PKHD1):c.10199dup (p.Met3400fs)	PKHD1	Likely pathogenic	6	51524724	51524725	C	CA	criteria provided, single submitter	ClinGen:CA16041028
single nucleotide variant	NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	PKHD1	Pathogenic	6	51524705	51524705	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275361
single nucleotide variant	NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51524574	51524574	G	T	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.10412T>G (p.Val3471Gly)	PKHD1	Pathogenic	6	51524512	51524512	A	C	criteria provided, single submitter	ClinGen:CA253016,UniProtKB:P08F94#VAR_018590,OMIM:606702.0008
Deletion	NM_138694.4(PKHD1):c.10418del (p.Phe3473fs)	PKHD1	Likely pathogenic	6	51524506	51524506	GA	G	criteria provided, single submitter	ClinGen:CA16041027
Deletion	NM_138694.4(PKHD1):c.10443del (p.Leu3481fs)	PKHD1	Pathogenic	6	51524481	51524481	GC	G	criteria provided, single submitter	ClinGen:CA658657598
single nucleotide variant	NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	PKHD1	Pathogenic/Likely pathogenic	6	51524480	51524480	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274092,UniProtKB:P08F94#VAR_018591
Duplication	NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)	PKHD1	Pathogenic/Likely pathogenic	6	51524471	51524472	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA274359