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.91035G>A (p.Trp30345Ter)	TTN	Likely pathogenic	2	179416592	179416592	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)	TTN	Pathogenic/Likely pathogenic	2	179427755	179427755	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter)	TTN	Likely pathogenic	2	179428311	179428311	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)	TTN	Likely pathogenic	2	179429209	179429209	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)	TTN	Likely pathogenic	2	179432533	179432533	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)	TTN	Pathogenic/Likely pathogenic	2	179440145	179440145	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter)	TTN	Likely pathogenic	2	179444405	179444405	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.67415G>A (p.Trp22472Ter)	TTN	Pathogenic	2	179444509	179444509	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486411	128486411	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)	FLNC	Pathogenic/Likely pathogenic	7	128489402	128489402	C	T	criteria provided, multiple submitters, no conflicts	-

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