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.7268C>T (p.Ser2423Phe)	PKD1	Likely pathogenic	16	2156620	2156620	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser)	PKD1	Likely pathogenic	16	2156906	2156906	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)	PKD1	Pathogenic/Likely pathogenic	16	2156907	2156907	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)	PKD1	Pathogenic	16	2158432	2158432	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs)	PKD1	Pathogenic	16	2159615	2159616	CAT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)	PKD1	Pathogenic	16	2160991	2160991	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001009944.3(PKD1):c.3932del (p.Ala1311fs)	PKD1	Pathogenic	16	2161236	2161236	CG	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del)	PKD1	Likely pathogenic	16	2162794	2162805	AGGCCACCTCCAC	A	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.1772del (p.Thr591fs)	PKD1	Pathogenic	16	2166070	2166070	CG	C	criteria provided, single submitter	-
Deletion	NM_001009944.3(PKD1):c.1400_1410del (p.Trp467fs)	PKD1	Pathogenic	16	2167030	2167040	AGAAGCCGATCC	A	criteria provided, single submitter	-

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