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_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)	KCNQ1	Likely pathogenic	11	2593283	2593283	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007996
single nucleotide variant	NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser)	KCNQ1	Likely pathogenic	11	2593286	2593286	C	A	criteria provided, single submitter	ClinGen:CA008003
single nucleotide variant	NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg)	KCNQ1	Pathogenic/Likely pathogenic	11	2593301	2593301	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008035,UniProtKB:P51787#VAR_008942
single nucleotide variant	NM_000218.3(KCNQ1):c.773A>C (p.His258Pro)	KCNQ1	Pathogenic	11	2593332	2593332	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008159
single nucleotide variant	NM_000218.3(KCNQ1):c.781G>C (p.Glu261Gln)	KCNQ1	Likely pathogenic	11	2594076	2594076	G	C	criteria provided, single submitter	ClinGen:CA008221
single nucleotide variant	NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)	KCNQ1	Likely pathogenic	11	2594145	2594145	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008486
single nucleotide variant	NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser)	KCNQ1	Likely pathogenic	11	2594182	2594182	T	C	criteria provided, single submitter	ClinGen:CA008541
single nucleotide variant	NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)	KCNQ1	Pathogenic/Likely pathogenic	11	2594200	2594200	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008583,UniProtKB:P51787#VAR_074975
single nucleotide variant	NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro)	KCNQ1	Likely pathogenic	11	2594203	2594203	T	C	criteria provided, single submitter	ClinGen:CA008593,UniProtKB:P51787#VAR_074977
single nucleotide variant	NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg)	KCNQ1	Pathogenic	11	2594211	2594211	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008640,UniProtKB:P51787#VAR_001528

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