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
single nucleotide variant	NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)	BAG3	Pathogenic/Likely pathogenic	10	121431884	121431884	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_032578.4(MYPN):c.3127del (p.Ser1043fs)	MYPN	Pathogenic/Likely pathogenic	10	69955258	69955258	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer)	SCN5A	Pathogenic	3	38592478	38592479	CAT	C	criteria provided, single submitter	-
Deletion	NM_000335.5(SCN5A):c.4654del (p.Ser1552fs)	SCN5A	Pathogenic	3	38595926	38595926	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter)	SCN5A	Pathogenic	3	38592477	38592477	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys)	SCN5A	Pathogenic	3	38592584	38592584	A	C	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs)	MYBPC3	Pathogenic	11	47353638	47353638	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs)	MYBPC3	Pathogenic	11	47354171	47354174	CCGAG	C	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs)	MYBPC3	Pathogenic	11	47358967	47358968	A	AGGGCT	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.2438del (p.Lys813fs)	MYBPC3	Pathogenic	11	47359106	47359106	CT	C	criteria provided, single submitter	-

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