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_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)	MYBPC3	Pathogenic	11	47356622	47356623	CGT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013096
single nucleotide variant	NM_000256.3(MYBPC3):c.2737+2T>A	MYBPC3	Pathogenic	11	47357426	47357426	A	T	criteria provided, single submitter	ClinGen:CA012903
Deletion	NM_000256.3(MYBPC3):c.2556del (p.Ile852fs)	MYBPC3	Pathogenic	11	47358988	47358988	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA012627
Deletion	NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs)	MYBPC3	Pathogenic	11	47359006	47359027	AGACGCGCATCTCGTACACCACG	A	criteria provided, single submitter	ClinGen:CA012435
single nucleotide variant	NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter)	MYBPC3	Pathogenic	11	47359263	47359263	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012195
single nucleotide variant	NM_000256.3(MYBPC3):c.2149-1G>A	MYBPC3	Pathogenic	11	47360231	47360231	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011768
Indel	NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47361269	47361270	AG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011614
single nucleotide variant	NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47362717	47362717	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011370
Deletion	NM_000256.3(MYBPC3):c.1678del (p.Asp560fs)	MYBPC3	Pathogenic	11	47363654	47363654	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010909
Deletion	NM_000256.3(MYBPC3):c.1628del (p.Lys543fs)	MYBPC3	Pathogenic	11	47363704	47363704	CT	C	criteria provided, single submitter	ClinGen:CA010821

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