多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1694-1G>A	PKHD1	Pathogenic	6	51920528	51920528	C	T	criteria provided, single submitter	ClinGen:CA224055
single nucleotide variant	NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	PKHD1	Pathogenic	6	51913356	51913356	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224056
single nucleotide variant	NM_138694.4(PKHD1):c.2407+1G>A	PKHD1	Pathogenic	6	51913289	51913289	C	T	criteria provided, single submitter	ClinGen:CA224058
single nucleotide variant	NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51910942	51910942	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224059
Deletion	NM_138694.4(PKHD1):c.2827_2828del (p.Asp943fs)	PKHD1	Pathogenic	6	51907926	51907927	GTC	G	criteria provided, single submitter	ClinGen:CA224061
Deletion	NM_138694.4(PKHD1):c.353del (p.Ser118fs)	PKHD1	Pathogenic/Likely pathogenic	6	51944735	51944735	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224070
Indel	NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)	PKHD1	Pathogenic	6	51890846	51890847	GG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224071
single nucleotide variant	NM_138694.4(PKHD1):c.391-1G>C	PKHD1	Pathogenic	6	51941132	51941132	C	G	criteria provided, single submitter	ClinGen:CA224072
Indel	NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)	PKHD1	Pathogenic	6	51890193	51890193	C	GGGGAATA	criteria provided, multiple submitters, no conflicts	ClinGen:CA224077
single nucleotide variant	NM_138694.4(PKHD1):c.5236+1G>A	PKHD1	Pathogenic/Likely pathogenic	6	51889371	51889371	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224078

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