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.7486+1G>T	PKHD1	Likely pathogenic	6	51735301	51735301	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer)	PKHD1	Likely pathogenic	6	51938320	51938320	CA	C	criteria provided, single submitter	-
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.10036_10045del (p.Cys3346fs)	PKHD1	Pathogenic/Likely pathogenic	6	51609294	51609303	GGACTTGCACA	G	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.6866-16_6866del	PKHD1	Likely pathogenic	6	51768525	51768541	GTCTAATGTTTCAACAAA	G	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.6809-2A>G	PKHD1	Likely pathogenic	6	51768842	51768842	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.6491-1G>A	PKHD1	Likely pathogenic	6	51774273	51774273	C	T	criteria provided, single submitter	-
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	-

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