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_001009944.3(PKD1):c.8017-2A>G	PKD1	Pathogenic	16	2154645	2154645	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.1548+1G>A	PKD2	Pathogenic/Likely pathogenic	4	88968023	88968023	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	PKD1	Pathogenic	16	2142080	2142080	TC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)	PKD1	Pathogenic	16	2164529	2164530	C	CG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001009944.3(PKD1):c.755dup (p.Pro253fs)	PKD1	Pathogenic	16	2168237	2168238	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)	PKD2	Pathogenic	4	88986959	88986959	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)	PKD1	Pathogenic	16	2159290	2159290	G	A	criteria provided, single submitter	-
Duplication	NM_000297.4(PKD2):c.538dup (p.Leu180fs)	PKD2	Pathogenic	4	88929418	88929419	T	TC	criteria provided, single submitter	-
Duplication	NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)	PKD1	Pathogenic	16	2165390	2165391	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)	PKD1	Pathogenic	16	2156561	2156561	C	A	criteria provided, multiple submitters, no conflicts	-

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