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

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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_001037.5(SCN1B):c.254G>A (p.Arg85His)	SCN1B	Pathogenic/Likely pathogenic	19	35524449	35524449	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144661,UniProtKB:Q07699#VAR_070219,OMIM:600235.0006
single nucleotide variant	NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)	KCND3	Pathogenic	1	112524295	112524295	T	G	criteria provided, single submitter	ClinGen:CA264792,UniProtKB:Q9UK17#VAR_070788,OMIM:605411.0002
single nucleotide variant	NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr)	KCNH2	Pathogenic	7	150649806	150649806	C	T	criteria provided, single submitter	ClinGen:CA004358,UniProtKB:Q12809#VAR_068260
single nucleotide variant	NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp)	KCNH2	Pathogenic	7	150671979	150671979	A	C	criteria provided, single submitter	ClinGen:CA004378
single nucleotide variant	NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)	KCNH2	Likely pathogenic	7	150649790	150649790	T	C	criteria provided, single submitter	ClinGen:CA004393,UniProtKB:Q12809#VAR_074811
single nucleotide variant	NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys)	KCNH2	Pathogenic	7	150671978	150671978	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004427,UniProtKB:Q12809#VAR_074770
single nucleotide variant	NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)	KCNH2	Pathogenic	7	150671966	150671966	C	A	criteria provided, single submitter	ClinGen:CA004581,UniProtKB:Q12809#VAR_009909
single nucleotide variant	NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile)	KCNH2	Pathogenic/Likely pathogenic	7	150649649	150649649	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004610,UniProtKB:Q12809#VAR_008917
single nucleotide variant	NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)	KCNH2	Likely pathogenic	7	150649592	150649592	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004695,UniProtKB:Q12809#VAR_074821
single nucleotide variant	NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)	KCNH2	Pathogenic/Likely pathogenic	7	150649569	150649569	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004728,UniProtKB:Q12809#VAR_074824

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