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
single nucleotide variant	NM_001267550.2(TTN):c.59926+1G>A	TTN	Pathogenic	2	179456704	179456704	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)	TTN	Likely pathogenic	2	179466064	179466064	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)	TTN	Likely pathogenic	2	179474501	179474501	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.49345+2T>C	TTN	Likely pathogenic	2	179478777	179478777	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.2389+2T>C	FLNC	Pathogenic	7	128482754	128482754	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)	FLNC	Pathogenic/Likely pathogenic	7	128488655	128488655	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)	FLNC	Pathogenic	7	128487793	128487796	GGGAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.4952-2A>T	FLNC	Likely pathogenic	7	128489383	128489383	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter)	FLNC	Pathogenic	7	128491399	128491399	A	T	criteria provided, single submitter	-
Deletion	NM_001458.5(FLNC):c.6447del (p.Ile2150fs)	FLNC	Pathogenic	7	128493853	128493853	AC	A	criteria provided, single submitter	-

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