肥大型心筋症 - MGenReviews

肥大型心筋症

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_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)	MYBPC3	Pathogenic	11	47359006	47359010	AGACGC	A	criteria provided, multiple submitters, no conflicts	MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00155,OMIM:600958.0009,ClinGen:CA012522
single nucleotide variant	NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47359003	47359003	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012567
Indel	NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)	MYBPC3	Pathogenic	11	47358987	47358988	CG	AGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA012620
Deletion	NM_000256.3(MYBPC3):c.2558del (p.Gly853fs)	MYBPC3	Pathogenic	11	47358986	47358986	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012641
single nucleotide variant	NM_000256.3(MYBPC3):c.26-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47373058	47373058	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012771
Duplication	NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47357554	47357555	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA012705
single nucleotide variant	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3	Pathogenic	11	47357495	47357495	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012809
Deletion	NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)	MYBPC3	Pathogenic	11	47356664	47356665	CCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013018
Deletion	NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47356633	47356634	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013077,MYBPC3 homepage - Leiden Muscular Dystrophy pages:MYBPC3_00172,OMIM:600958.0028
single nucleotide variant	NM_000256.3(MYBPC3):c.2905+1G>C	MYBPC3	Pathogenic	11	47356592	47356592	C	G	criteria provided, single submitter	ClinGen:CA013139

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