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.59693G>A (p.Trp19898Ter)	TTN	Likely pathogenic	2	179456938	179456938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA60970456
single nucleotide variant	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3	Pathogenic/Likely pathogenic	10	121411264	121411264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA378294121
single nucleotide variant	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN	Pathogenic/Likely pathogenic	2	179392275	179392275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA60949220
Indel	NM_001267550.2(TTN):c.97405_97410delinsAC (p.Glu32469fs)	TTN	Likely pathogenic	2	179407073	179407078	ATACTC	GT	criteria provided, single submitter	ClinGen:CA658795966
single nucleotide variant	NM_001267550.2(TTN):c.91565-1G>A	TTN	Likely pathogenic	2	179415001	179415001	C	T	criteria provided, single submitter	ClinGen:CA349500060
single nucleotide variant	NM_001267550.2(TTN):c.91113G>A (p.Trp30371Ter)	TTN	Likely pathogenic	2	179416514	179416514	C	T	criteria provided, single submitter	ClinGen:CA349503675
single nucleotide variant	NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)	TTN	Likely pathogenic	2	179419764	179419764	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349527671
Deletion	NM_001267550.2(TTN):c.88184del (p.Phe29395fs)	TTN	Likely pathogenic	2	179421697	179421697	GA	G	criteria provided, single submitter	ClinGen:CA658795977
single nucleotide variant	NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter)	TTN	Likely pathogenic	2	179424239	179424239	C	A	criteria provided, single submitter	ClinGen:CA349542598
Duplication	NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)	TTN	Pathogenic	2	179424782	179424783	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA538435303

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