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.2894_2905+4del	MYBPC3	Pathogenic	11	47356589	47356604	CTCACGCAGGATCTCCT	C	criteria provided, single submitter	ClinGen:CA296494
single nucleotide variant	NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter)	MYBPC3	Pathogenic	11	47356605	47356605	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013116
Duplication	NM_000256.3(MYBPC3):c.2792dup (p.Lys932fs)	MYBPC3	Pathogenic	11	47356705	47356706	C	CA	criteria provided, single submitter	ClinGen:CA296493
single nucleotide variant	NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47356750	47356750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012943
Deletion	NM_000256.3(MYBPC3):c.2744del (p.Glu915fs)	MYBPC3	Pathogenic	11	47356754	47356754	CT	C	criteria provided, single submitter	ClinGen:CA012927
Deletion	NM_000256.3(MYBPC3):c.2739del (p.Ser914fs)	MYBPC3	Likely pathogenic	11	47356759	47356759	AG	A	criteria provided, single submitter	ClinGen:CA012918
Deletion	NM_000256.3(MYBPC3):c.2737del (p.Cys913fs)	MYBPC3	Pathogenic	11	47357428	47357428	CA	C	criteria provided, single submitter	ClinGen:CA012912
Deletion	NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs)	MYBPC3	Pathogenic	11	47357446	47357456	TCCACGCTGTAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012846
Deletion	NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47357555	47357555	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012712
Deletion	NM_000256.3(MYBPC3):c.2604del (p.Ser871fs)	MYBPC3	Pathogenic	11	47357561	47357561	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA012697

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