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.350C>T (p.Pro117Leu)	KCNQ1	Likely pathogenic	11	2466678	2466678	C	T	criteria provided, single submitter	ClinGen:CA006854,UniProtKB:P51787#VAR_074932,OMIM:607542.0030
single nucleotide variant	NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)	KCNQ1	Pathogenic	11	2594100	2594100	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008278,UniProtKB:P51787#VAR_009925,OMIM:607542.0033
single nucleotide variant	NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)	KCNQ1	Pathogenic/Likely pathogenic	11	2594101	2594101	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008292,UniProtKB:P51787#VAR_001524,OMIM:607542.0034
single nucleotide variant	NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)	KCNQ1	Pathogenic/Likely pathogenic	11	2594200	2594200	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008587,UniProtKB:P51787#VAR_068303
single nucleotide variant	NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)	KCNQ1	Pathogenic	11	2592563	2592563	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007777,OMIM:607542.0040
Deletion	NM_000218.3(KCNQ1):c.1008del (p.Ile337fs)	KCNQ1	Pathogenic	11	2604750	2604750	GC	G	criteria provided, single submitter	ClinGen:CA004806
single nucleotide variant	NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe)	KCNQ1	Likely pathogenic	11	2604756	2604756	C	T	criteria provided, single submitter	ClinGen:CA004825
single nucleotide variant	NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)	KCNQ1	Pathogenic/Likely pathogenic	11	2604759	2604759	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004838
single nucleotide variant	NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)	KCNQ1	Pathogenic/Likely pathogenic	11	2604767	2604767	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004906,UniProtKB:P51787#VAR_001540
single nucleotide variant	NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser)	KCNQ1	Pathogenic/Likely pathogenic	11	2604770	2604770	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004923,UniProtKB:P51787#VAR_068309

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