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.488del (p.Leu163fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2591868	2591868	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007232
single nucleotide variant	NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	KCNQ1	Pathogenic	11	2591882	2591882	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007263,UniProtKB:P51787#VAR_001516
single nucleotide variant	NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)	KCNQ1	Pathogenic	11	2591882	2591882	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007272,UniProtKB:P51787#VAR_001516
Deletion	NM_000218.3(KCNQ1):c.504del (p.Thr169fs)	KCNQ1	Pathogenic	11	2591882	2591882	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007282
single nucleotide variant	NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)	KCNQ1	Likely pathogenic	11	2591886	2591886	C	G	criteria provided, single submitter	ClinGen:CA007290
single nucleotide variant	NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)	KCNQ1	Pathogenic	11	2591893	2591893	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007295
single nucleotide variant	NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp)	KCNQ1	Pathogenic	11	2591898	2591898	T	A	criteria provided, single submitter	ClinGen:CA007313,UniProtKB:P51787#VAR_074941
single nucleotide variant	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	KCNQ1	Pathogenic/Likely pathogenic	11	2591900	2591900	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007321,UniProtKB:P51787#VAR_001517
single nucleotide variant	NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	KCNQ1	Pathogenic/Likely pathogenic	11	2591901	2591901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007329,UniProtKB:P51787#VAR_008939
single nucleotide variant	NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro)	KCNQ1	Likely pathogenic	11	2591901	2591901	G	C	criteria provided, single submitter	ClinGen:CA007337,UniProtKB:P51787#VAR_074942

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