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.3097+2T>C	PKHD1	Likely pathogenic	6	51907655	51907655	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.2140+1G>T	PKHD1	Likely pathogenic	6	51917873	51917873	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)	PKHD1	Pathogenic/Likely pathogenic	6	51923236	51923236	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter)	PKHD1	Pathogenic	6	51927366	51927367	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.708-2A>C	PKHD1	Likely pathogenic	6	51934327	51934327	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.707+2T>C	PKHD1	Likely pathogenic	6	51935202	51935202	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)	PKHD1	Likely pathogenic	6	51927340	51927340	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.708-1G>A	PKHD1	Likely pathogenic	6	51934326	51934326	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.53-1G>A	PKHD1	Likely pathogenic	6	51948054	51948054	C	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs)	PKHD1	Likely pathogenic	6	51824680	51824681	G	GGT	criteria provided, single submitter	-

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