ブルガダ症候群 - MGenReviews

ブルガダ症候群

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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
Deletion	NC_000007.14:g.(?_150959552)_(150959756_?)del	KCNH2	Pathogenic	7	150656640	150656844	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln)	KCNH2	Likely pathogenic	7	150648790	150648790	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter)	KCNH2	Pathogenic	7	150644728	150644728	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys)	SCN5A	Pathogenic	3	38592584	38592584	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.748C>G (p.Leu250Val)	SCN5A	Likely pathogenic	3	38651411	38651411	G	C	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150955988)_(150958464_?)del	KCNH2	Pathogenic	7	150653076	150655552	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys)	KCNH2	Likely pathogenic	7	150648726	150648726	C	G	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs)	KCNH2	Pathogenic	7	150649937	150649938	CAG	C	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.910_916+11del	KCNH2	Likely pathogenic	7	150655136	150655153	CGGCGCCCTCACCGGTGCT	C	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_32824025)_(32824182_?)del	PKP2	Pathogenic	12	32976959	32977116	na	na	criteria provided, single submitter	-

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