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.63049_63050dup (p.Ile21018fs)	TTN	Pathogenic/Likely pathogenic	2	179453401	179453402	T	TGC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.53770del (p.Val17924fs)	TTN	Likely pathogenic	2	179470252	179470252	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)	TTN	Pathogenic/Likely pathogenic	2	179474028	179474028	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.89503+1G>C	TTN	Likely pathogenic	2	179418228	179418228	C	G	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.86889del (p.Trp28963fs)	TTN	Likely pathogenic	2	179423297	179423297	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter)	TTN	Likely pathogenic	2	179432225	179432225	T	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.76846_76847del (p.Asp25616fs)	TTN	Likely pathogenic	2	179434012	179434013	GTC	G	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.75354del (p.Asp25119fs)	TTN	Likely pathogenic	2	179435505	179435505	CT	C	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.64427_64428dup (p.Thr21477Ter)	TTN	Likely pathogenic	2	179450042	179450043	T	TTA	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.60581del (p.Gln20194fs)	TTN	Likely pathogenic	2	179455871	179455871	CT	C	criteria provided, single submitter	-

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