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

Excelでダウンロード

1
...
63
64
65
66
67
...
96

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_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)	KCNQ1	Pathogenic/Likely pathogenic	11	2604708	2604708	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008952
single nucleotide variant	NM_000218.3(KCNQ1):c.969G>A (p.Trp323Ter)	KCNQ1	Pathogenic	11	2604712	2604712	G	A	criteria provided, single submitter	ClinGen:CA008966
single nucleotide variant	NM_000218.3(KCNQ1):c.974G>A (p.Gly325Glu)	KCNQ1	Likely pathogenic	11	2604717	2604717	G	A	criteria provided, single submitter	ClinGen:CA008978
single nucleotide variant	NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly)	KCNQ1	Likely pathogenic	11	2604774	2604774	C	G	criteria provided, single submitter	ClinGen:CA004959
single nucleotide variant	NM_000218.3(KCNQ1):c.1033-2A>C	KCNQ1	Likely pathogenic	11	2606440	2606440	A	C	criteria provided, single submitter	ClinGen:CA005023
single nucleotide variant	NM_000218.3(KCNQ1):c.1033-2A>G	KCNQ1	Pathogenic	11	2606440	2606440	A	G	criteria provided, single submitter	ClinGen:CA005029
single nucleotide variant	NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg)	KCNQ1	Pathogenic	11	2606442	2606442	G	A	criteria provided, single submitter	ClinGen:CA005045,UniProtKB:P51787#VAR_008126
single nucleotide variant	NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val)	KCNQ1	Likely pathogenic	11	2606458	2606458	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005101
single nucleotide variant	NM_000218.3(KCNQ1):c.1078A>T (p.Arg360Trp)	KCNQ1	Likely pathogenic	11	2606487	2606487	A	T	criteria provided, single submitter	ClinGen:CA005188
single nucleotide variant	NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter)	KCNQ1	Pathogenic	11	2606490	2606490	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005213

1
...
63
64
65
66
67
...
96