筋原線維性ミオパチー - MGenReviews

筋原線維性ミオパチー

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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.81723T>A (p.Tyr27241Ter)	TTN	Pathogenic/Likely pathogenic	2	179429136	179429136	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)	TTN	Likely pathogenic	2	179396571	179396571	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.65505del (p.Ile21835fs)	TTN	Likely pathogenic	2	179448404	179448404	CA	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.59763del (p.Ser19921fs)	TTN	Likely pathogenic	2	179456868	179456868	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.99063del (p.Lys33021fs)	TTN	Pathogenic/Likely pathogenic	2	179403493	179403493	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)	TTN	Likely pathogenic	2	179468996	179468996	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs)	TTN	Likely pathogenic	2	179416629	179416630	A	ATAAC	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)	TTN	Likely pathogenic	2	179417432	179417432	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)	TTN	Likely pathogenic	2	179473098	179473098	G	C	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.86003dup (p.Thr28669fs)	TTN	Likely pathogenic	2	179424855	179424856	T	TA	criteria provided, single submitter	-

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