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
single nucleotide variant	NM_004006.3(DMD):c.10651C>T (p.Gln3551Ter)	DMD	Pathogenic	X	31165538	31165538	G	A	criteria provided, single submitter	ClinGen:CA16621358
Deletion	NM_004006.3(DMD):c.9370_9371del (p.Leu3124fs)	DMD	Pathogenic	X	31227807	31227808	CAA	C	criteria provided, single submitter	ClinGen:CA16621359
single nucleotide variant	NM_004006.3(DMD):c.8390+1G>A	DMD	Pathogenic	X	31525397	31525397	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621360
single nucleotide variant	NM_004006.3(DMD):c.5448+1G>A	DMD	Likely pathogenic	X	32366522	32366522	C	T	criteria provided, single submitter	ClinGen:CA16621361
Deletion	NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs)	DMD	Pathogenic	X	32404560	32404563	TTCAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621362
single nucleotide variant	NM_004006.3(DMD):c.3487C>T (p.Gln1163Ter)	DMD	Pathogenic	X	32472895	32472895	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621363
single nucleotide variant	NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)	DMD	Pathogenic	X	32509461	32509461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621364
single nucleotide variant	NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084867	156084867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621576
Duplication	NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)	TTN	Likely pathogenic	2	179395531	179395532	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621776
single nucleotide variant	NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)	LMNA	Likely pathogenic	1	156104299	156104299	C	T	criteria provided, single submitter	ClinGen:CA342817053

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