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
Deletion	NM_001267550.2(TTN):c.63203del (p.Pro21068fs)	TTN	Pathogenic	2	179452931	179452931	TG	T	criteria provided, single submitter	ClinGen:CA309417
single nucleotide variant	NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)	TTN	Likely pathogenic	2	179453427	179453427	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309491
single nucleotide variant	NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)	TTN	Pathogenic/Likely pathogenic	2	179454897	179454897	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)	TTN	Pathogenic/Likely pathogenic	2	179456425	179456425	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309287
single nucleotide variant	NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter)	TTN	Pathogenic/Likely pathogenic	2	179457379	179457379	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309280
single nucleotide variant	NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)	TTN	Pathogenic	2	179458850	179458850	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309284
single nucleotide variant	NM_001267550.2(TTN):c.57847+1G>C	TTN	Pathogenic	2	179460233	179460233	C	G	criteria provided, single submitter	ClinGen:CA309283
single nucleotide variant	NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)	TTN	Pathogenic/Likely pathogenic	2	179460312	179460312	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309277
Indel	NM_001267550.2(TTN):c.56935_56957delinsAACCT (p.Asp18979_Pro18986delinsAsnLeu)	TTN	Pathogenic	2	179463480	179463502	GGATCTCTAGCAGTCGCTGGGTC	AGGTT	criteria provided, single submitter	ClinGen:CA309414
Deletion	NM_001267550.2(TTN):c.56853del (p.Gly18952fs)	TTN	Pathogenic/Likely pathogenic	2	179463584	179463584	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA309543

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