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
Deletion	NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)	KCNQ1	Pathogenic	11	2610029	2610029	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005637
Duplication	NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)	KCNQ1	Pathogenic	11	2610028	2610029	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA005612
single nucleotide variant	NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)	KCNQ1	Pathogenic/Likely pathogenic	11	2683310	2683310	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005820
single nucleotide variant	NM_000218.3(KCNQ1):c.1514+1G>A	KCNQ1	Pathogenic	11	2683312	2683312	G	A	criteria provided, single submitter	ClinGen:CA005829
single nucleotide variant	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	KCNQ1	Pathogenic	11	2466481	2466481	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005867
single nucleotide variant	NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)	KCNQ1	Pathogenic/Likely pathogenic	11	2790111	2790111	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005889,UniProtKB:P51787#VAR_075009
single nucleotide variant	NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg)	KCNQ1	Pathogenic/Likely pathogenic	11	2790118	2790118	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005930,UniProtKB:P51787#VAR_075012
single nucleotide variant	NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly)	KCNQ1	Pathogenic	11	2790130	2790130	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005943,UniProtKB:P51787#VAR_068315
single nucleotide variant	NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)	KCNQ1	Pathogenic	11	2790147	2790147	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005967
single nucleotide variant	NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter)	KCNQ1	Pathogenic	11	2797207	2797207	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005987

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