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	NC_000003.12:g.(?_8733867)_(8745877_?)del	CAV3	Pathogenic	3	8775553	8787563	na	na	criteria provided, single submitter	-
Indel	NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro)	KCNE1	Likely pathogenic	21	35821756	35821761	CAGGGT	AGGGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA085426,OMIM:176261.0001
single nucleotide variant	NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)	KCNE1	Pathogenic	21	35821779	35821779	C	T	criteria provided, single submitter	ClinGen:CA331920
single nucleotide variant	NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter)	KCNE1	Likely pathogenic	21	35821671	35821671	G	A	criteria provided, single submitter	ClinGen:CA10588708
single nucleotide variant	NM_000219.6(KCNE1):c.217C>T (p.His73Tyr)	KCNE1	Likely pathogenic	21	35821716	35821716	G	A	criteria provided, single submitter	ClinGen:CA16620987
Duplication	NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)	KCNE1	Pathogenic	21	35821920	35821921	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369791
Indel	NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)	KCNE1	Pathogenic/Likely pathogenic	21	35821704	35821706	GGT	TAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653710
Deletion	NM_000219.6(KCNE1):c.202_205del (p.Ser68fs)	KCNE1	Likely pathogenic	21	35821728	35821731	TTGGA	T	criteria provided, single submitter	ClinGen:CA658799410
single nucleotide variant	NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter)	KCNE1	Pathogenic	21	35821882	35821882	C	T	criteria provided, single submitter	-
Deletion	NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del)	KCNE1	Likely pathogenic	21	35821753	35821767	TGCCCAGGGTGAAGAA	T	criteria provided, single submitter	-

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