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.3600_3609del (p.Cys1201fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47354135	47354144	CAGCACAGCAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA014440
Deletion	NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs)	MYBPC3	Likely pathogenic	11	47354378	47354379	TAA	T	criteria provided, single submitter	ClinGen:CA014212
single nucleotide variant	NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)	MYBPC3	Pathogenic	11	47354483	47354483	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014029
single nucleotide variant	NM_000256.3(MYBPC3):c.3331-1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47354525	47354525	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013982
Deletion	NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	MYBPC3	Pathogenic	11	47354787	47354787	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013802
single nucleotide variant	NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter)	MYBPC3	Pathogenic	11	47355169	47355169	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013521
single nucleotide variant	NM_000256.3(MYBPC3):c.2994+2T>C	MYBPC3	Pathogenic/Likely pathogenic	11	47355471	47355471	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013280
single nucleotide variant	NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter)	MYBPC3	Pathogenic	11	47355514	47355514	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013224
single nucleotide variant	NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)	MYBPC3	Pathogenic	11	47355547	47355547	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013195
single nucleotide variant	NM_000256.3(MYBPC3):c.2906-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47355563	47355563	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA013161

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