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.3190+3del	MYBPC3	Pathogenic	11	47355105	47355105	GC	G	criteria provided, single submitter	ClinGen:CA013625
Indel	NM_000256.3(MYBPC3):c.3079G>AA	MYBPC3	Pathogenic	11	47355219	47355219	C	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA296432
single nucleotide variant	NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter)	MYBPC3	Pathogenic	11	47355264	47355264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013359
single nucleotide variant	NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter)	MYBPC3	Pathogenic	11	47355277	47355277	C	T	criteria provided, single submitter	ClinGen:CA013344
single nucleotide variant	NM_000256.3(MYBPC3):c.2995-1G>A	MYBPC3	Pathogenic	11	47355304	47355304	C	T	criteria provided, single submitter	ClinGen:CA013288
single nucleotide variant	NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter)	MYBPC3	Pathogenic	11	47355475	47355475	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013265
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

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