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_001267550.2(TTN):c.88594+1G>T	TTN	Likely pathogenic	2	179419591	179419591	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275153
Deletion	NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs)	TTN	Likely pathogenic	2	179418853	179418859	ACCGCCAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275154
single nucleotide variant	NM_004006.3(DMD):c.133C>T (p.Gln45Ter)	DMD	Pathogenic	X	32867898	32867898	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275173
single nucleotide variant	NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)	TTN	Likely pathogenic	2	179402215	179402215	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275197
Deletion	NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)	TTN	Pathogenic/Likely pathogenic	2	179393311	179393315	CAAGTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275200
single nucleotide variant	NM_004006.3(DMD):c.4315A>T (p.Arg1439Ter)	DMD	Pathogenic	X	32408217	32408217	T	A	criteria provided, single submitter	ClinGen:CA275205
Deletion	NM_004006.3(DMD):c.4523del (p.Leu1508fs)	DMD	Pathogenic	X	32404578	32404578	CA	C	criteria provided, single submitter	ClinGen:CA275213
single nucleotide variant	NM_004006.3(DMD):c.4675-2A>G	DMD	Pathogenic	X	32398799	32398799	T	C	criteria provided, single submitter	ClinGen:CA275218
Deletion	NM_004006.3(DMD):c.5697del (p.Lys1899fs)	DMD	Pathogenic	X	32361293	32361293	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275266
single nucleotide variant	NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)	DMD	Pathogenic	X	32360271	32360271	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346882

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