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	NM_000238.4(KCNH2):c.1316del (p.Gly439fs)	KCNH2	Pathogenic	7	150649754	150649754	GC	G	criteria provided, single submitter	ClinGen:CA004447
Deletion	NM_000238.4(KCNH2):c.1285del (p.Ala429fs)	KCNH2	Pathogenic	7	150649785	150649785	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004413
single nucleotide variant	NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro)	KCNH2	Likely pathogenic	7	150649788	150649788	A	G	criteria provided, single submitter	ClinGen:CA004400
single nucleotide variant	NM_000238.4(KCNH2):c.1262C>A (p.Thr421Lys)	KCNH2	Pathogenic	7	150649808	150649808	G	T	criteria provided, single submitter	ClinGen:CA004343
Duplication	NM_000238.4(KCNH2):c.1201_1204dup (p.His402fs)	KCNH2	Pathogenic	7	150649865	150649866	T	TGCAG	criteria provided, single submitter	ClinGen:CA305306
single nucleotide variant	NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter)	KCNH2	Pathogenic	7	150649877	150649877	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004257
Duplication	NM_000238.4(KCNH2):c.1150dup (p.Val384fs)	KCNH2	Pathogenic	7	150649919	150649920	A	AC	criteria provided, single submitter	ClinGen:CA305305
Deletion	NM_000238.4(KCNH2):c.1142del (p.Gly381fs)	KCNH2	Pathogenic	7	150649928	150649928	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004244
Duplication	NM_000238.4(KCNH2):c.1132dup (p.Leu378fs)	KCNH2	Likely pathogenic	7	150649937	150649938	A	AG	criteria provided, single submitter	ClinGen:CA305304
single nucleotide variant	NM_000238.4(KCNH2):c.1129-1G>A	KCNH2	Pathogenic	7	150649942	150649942	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004231

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