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_000335.5(SCN5A):c.1255C>T (p.Gln419Ter)	SCN5A	Likely pathogenic	3	38647525	38647525	G	A	criteria provided, single submitter	ClinGen:CA16043398
single nucleotide variant	NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu)	SCN5A	Likely pathogenic	3	38597952	38597952	A	G	criteria provided, single submitter	ClinGen:CA16604466
single nucleotide variant	NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro)	SCN5A	Likely pathogenic	3	38592950	38592950	C	G	criteria provided, single submitter	ClinGen:CA16604565
single nucleotide variant	NM_000335.5(SCN5A):c.273+1G>A	SCN5A	Likely pathogenic	3	38674525	38674525	C	T	criteria provided, single submitter	ClinGen:CA16604928
single nucleotide variant	NM_000335.5(SCN5A):c.6045G>A (p.Val2015=)	SCN5A	Pathogenic	3	38591815	38591815	C	T	criteria provided, single submitter	ClinGen:CA16609848
Deletion	NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del)	SCN5A	Pathogenic	3	38639296	38639298	GAGT	G	criteria provided, single submitter	ClinGen:CA16609849
Deletion	NC_000003.12:g.(?_38633035)_(38633359_?)del	SCN5A	Pathogenic	3	38674526	38674850	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38548062)_(38551558_?)del	SCN5A	Likely pathogenic	3	38589553	38593049	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38613743)_(38622489_?)del	SCN5A	Pathogenic	3	38655234	38663980	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.2636G>A (p.Trp879Ter)	SCN5A	Pathogenic	3	38627333	38627333	C	T	criteria provided, single submitter	ClinGen:CA16611268

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