先天性QT延長症候群 - MGenReviews

先天性QT延長症候群

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
Duplication	NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs)	KCNH2	Pathogenic	7	150644127	150644128	C	CA	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.2762del (p.Gly921fs)	KCNH2	Pathogenic/Likely pathogenic	7	150644897	150644897	GC	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs)	KCNH2	Pathogenic	7	150645534	150645534	T	GTGTCG	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.2257del (p.Ala753fs)	KCNH2	Pathogenic	7	150647397	150647397	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter)	KCNH2	Pathogenic	7	150648826	150648826	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000238.4(KCNH2):c.1379del (p.Asp460fs)	KCNH2	Pathogenic	7	150649691	150649691	GT	G	criteria provided, single submitter	-
Duplication	NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs)	KCNH2	Pathogenic	7	150671855	150671856	T	TGCGCGATCTGCGCGGCA	criteria provided, single submitter	-
Indel	NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)	KCNH2	Pathogenic	7	150671959	150671960	GC	TT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000238.4(KCNH2):c.84del (p.Lys28fs)	KCNH2	Pathogenic	7	150672022	150672022	AC	A	criteria provided, single submitter	-
Deletion	NC_000007.14:g.(?_150959562)_(150959746_?)del	KCNH2	Pathogenic	7	150656650	150656834	na	na	criteria provided, single submitter	-

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