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.97492+1G>C	TTN	Pathogenic/Likely pathogenic	2	179406990	179406990	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273675
Indel	NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)	TTN	Pathogenic/Likely pathogenic	2	179412173	179412173	G	CTGCTAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA273250
Indel	NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer)	TTN	Likely pathogenic	2	179415915	179415917	CGC	TCACACCCACTTA	criteria provided, single submitter	ClinGen:CA273645
single nucleotide variant	NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)	TTN	Likely pathogenic	2	179417788	179417788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273662
Deletion	NM_001267550.2(TTN):c.87516del (p.Tyr29173fs)	TTN	Likely pathogenic	2	179422565	179422565	AG	A	criteria provided, single submitter	ClinGen:CA273252
Deletion	NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)	TTN	Pathogenic/Likely pathogenic	2	179424057	179424060	CCTTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273624
Deletion	NM_001267550.2(TTN):c.83407del (p.Val27803fs)	TTN	Likely pathogenic	2	179427452	179427452	AC	A	criteria provided, single submitter	ClinGen:CA273613
Deletion	NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs)	TTN	Pathogenic/Likely pathogenic	2	179428980	179428981	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273591
single nucleotide variant	NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)	TTN	Pathogenic/Likely pathogenic	2	179429538	179429538	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273651
Deletion	NM_001267550.2(TTN):c.49648+2del	TTN	Pathogenic	2	179477886	179477886	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273623

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