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.78697G>T (p.Glu26233Ter)	TTN	Likely pathogenic	2	179432162	179432162	C	A	criteria provided, single submitter	ClinGen:CA309327
single nucleotide variant	NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)	TTN	Pathogenic/Likely pathogenic	2	179432681	179432681	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309324
Indel	NM_001267550.2(TTN):c.77646_77662delinsAGA (p.Ile25883fs)	TTN	Pathogenic/Likely pathogenic	2	179433197	179433213	GAGTTACAATTTCGATG	TCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA309435
single nucleotide variant	NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)	TTN	Pathogenic/Likely pathogenic	2	179433422	179433422	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309318
Deletion	NM_001267550.2(TTN):c.77177del (p.Gly25726fs)	TTN	Pathogenic/Likely pathogenic	2	179433682	179433682	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309434
Duplication	NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)	TTN	Pathogenic/Likely pathogenic	2	179433758	179433759	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA309433
single nucleotide variant	NM_001267550.2(TTN):c.76631G>A (p.Trp25544Ter)	TTN	Likely pathogenic	2	179434228	179434228	C	T	criteria provided, single submitter	ClinGen:CA309501
Deletion	NM_001267550.2(TTN):c.76397_76398del (p.Ile25466fs)	TTN	Pathogenic	2	179434461	179434462	CTA	C	criteria provided, single submitter	ClinGen:CA090970
Indel	NM_001267550.2(TTN):c.76157_76158delinsAGGG (p.Gly25386fs)	TTN	Pathogenic	2	179434701	179434702	TC	CCCT	criteria provided, single submitter	ClinGen:CA309432
single nucleotide variant	NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)	TTN	Pathogenic/Likely pathogenic	2	179435531	179435531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309498

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