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

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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
Duplication	NM_001267550.2(TTN):c.95469dup (p.Ile31824fs)	TTN	Likely pathogenic	2	179410367	179410368	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617334
Duplication	NM_001267550.2(TTN):c.95082dup (p.Gly31695fs)	TTN	Pathogenic	2	179410975	179410976	C	CG	criteria provided, single submitter	ClinGen:CA16617335
single nucleotide variant	NM_001267550.2(TTN):c.95032T>G (p.Cys31678Gly)	TTN	Likely pathogenic	2	179411026	179411026	A	C	criteria provided, single submitter	ClinGen:CA16617336
Indel	NM_001267550.2(TTN):c.94178_94179delinsC (p.Lys31393fs)	TTN	Pathogenic	2	179412174	179412175	TT	G	criteria provided, single submitter	ClinGen:CA16617337
Insertion	NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)	TTN	Likely pathogenic	2	179418511	179418512	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617338
Deletion	NM_001267550.2(TTN):c.88696del (p.Ile29566fs)	TTN	Likely pathogenic	2	179419378	179419378	AT	A	criteria provided, single submitter	ClinGen:CA16617339
single nucleotide variant	NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)	TTN	Pathogenic	2	179423146	179423146	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1988388
Deletion	NM_001267550.2(TTN):c.86627del (p.Pro28876fs)	TTN	Likely pathogenic	2	179424232	179424232	TG	T	criteria provided, single submitter	ClinGen:CA16617340
single nucleotide variant	NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)	TTN	Pathogenic	2	179424496	179424496	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617341
Deletion	NM_001267550.2(TTN):c.84365del (p.Gly28122fs)	TTN	Pathogenic/Likely pathogenic	2	179426494	179426494	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1988788

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