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
single nucleotide variant	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Pathogenic	12	2614110	2614110	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301246,OMIM:114205.0001
single nucleotide variant	NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2614098	2614098	G	A	criteria provided, multiple submitters, no conflicts	OMIM:114205.0002,ClinGen:CA329627
single nucleotide variant	NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)	CACNA1C	Pathogenic	12	2613692	2613692	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301236
single nucleotide variant	NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C	Pathogenic/Likely pathogenic	12	2613704	2613704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301241
single nucleotide variant	NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg)	CACNA1C	Pathogenic	12	2613704	2613704	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA301245
single nucleotide variant	NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)	CACNA1C	Pathogenic	12	2675631	2675631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA301308,OMIM:114205.0016
single nucleotide variant	NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)	CACNA1C	Pathogenic/Likely pathogenic	12	2702421	2702421	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301396,OMIM:114205.0008
single nucleotide variant	NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly)	CACNA1C	Pathogenic	12	2702426	2702426	C	G	criteria provided, single submitter	ClinGen:CA301743
single nucleotide variant	NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)	CACNA1C	Pathogenic/Likely pathogenic	12	2774766	2774766	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346874
single nucleotide variant	NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr)	CACNA1C	Pathogenic	12	2717817	2717817	T	C	criteria provided, single submitter	ClinGen:CA204669,OMIM:114205.0015

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