特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

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_000335.5(SCN5A):c.4420del (p.Gln1474fs)	SCN5A	Pathogenic	3	38597946	38597946	TG	T	criteria provided, single submitter	ClinGen:CA10587575
single nucleotide variant	NM_000257.4(MYH7):c.2771A>G (p.Glu924Gly)	MYH7	Likely pathogenic	14	23893267	23893267	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_002471.4(MYH6):c.1410+1G>A	MYH6	Pathogenic	14	23869917	23869917	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.5560-2A>C	MYH7	Likely pathogenic	14	23883313	23883313	T	G	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156137634)_(156139126_?)del	LMNA	Likely pathogenic	1	156107425	156108917	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)	LMNA	Pathogenic	1	156105874	156105874	C	G	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1516del (p.His506fs)	LMNA	Pathogenic	1	156106929	156106929	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)	LMNA	Pathogenic	1	156084713	156084713	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.73del (p.Arg25fs)	LMNA	Pathogenic	1	156084780	156084780	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)	LMNA	Pathogenic	1	156106031	156106031	C	A	criteria provided, multiple submitters, no conflicts	-

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