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.84041C>G (p.Ser28014Ter)	TTN	Pathogenic	2	179426818	179426818	G	C	criteria provided, single submitter	ClinGen:CA16603993
single nucleotide variant	NM_001267550.2(TTN):c.73443C>A (p.Tyr24481Ter)	TTN	Pathogenic	2	179437416	179437416	G	T	criteria provided, single submitter	ClinGen:CA16604000
single nucleotide variant	NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)	TTN	Pathogenic	2	179455719	179455719	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604007
single nucleotide variant	NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)	TTN	Pathogenic/Likely pathogenic	2	179463631	179463631	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604009
single nucleotide variant	NM_001267550.2(TTN):c.52857C>A (p.Cys17619Ter)	TTN	Pathogenic	2	179472657	179472657	G	T	criteria provided, single submitter	ClinGen:CA16604011
single nucleotide variant	NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)	TTN	Likely pathogenic	2	179638267	179638267	G	A	criteria provided, single submitter	ClinGen:CA2004799
single nucleotide variant	NM_001267550.2(TTN):c.87236C>G (p.Ser29079Ter)	TTN	Pathogenic	2	179422845	179422845	G	C	criteria provided, single submitter	ClinGen:CA16604095
single nucleotide variant	NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)	TTN	Likely pathogenic	2	179426604	179426604	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1988805
single nucleotide variant	NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)	TTN	Likely pathogenic	2	179433994	179433994	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604111
single nucleotide variant	NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)	TTN	Likely pathogenic	2	179449626	179449626	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604139

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