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.1781G>C (p.Arg594Pro)	KCNQ1	Likely pathogenic	11	2799254	2799254	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006395,UniProtKB:P51787#VAR_075029
Deletion	NM_000218.3(KCNQ1):c.1842_1844del (p.His614del)	KCNQ1	Pathogenic	11	2869042	2869044	TCAC	T	criteria provided, single submitter	ClinGen:CA006491
Deletion	NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2869093	2869112	CCCCAGAGAGGGCGGGGCCCA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006551,OMIM:607542.0026
Deletion	NM_000218.3(KCNQ1):c.1893del (p.Arg632fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2869089	2869089	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006577
single nucleotide variant	NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)	KCNQ1	Pathogenic	11	2466660	2466660	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006810,UniProtKB:P51787#VAR_009918
single nucleotide variant	NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)	KCNQ1	Likely pathogenic	11	2466669	2466669	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006819
single nucleotide variant	NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)	KCNQ1	Likely pathogenic	11	2466672	2466672	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006838,UniProtKB:P51787#VAR_068288
Deletion	NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)	KCNQ1	Pathogenic	11	2549222	2549223	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007133,OMIM:607542.0022
single nucleotide variant	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Pathogenic	11	2549253	2549253	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007174
single nucleotide variant	NM_000218.3(KCNQ1):c.477+5G>C	KCNQ1	Likely pathogenic	11	2549253	2549253	G	C	criteria provided, single submitter	ClinGen:CA007183

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