肥大型心筋症 - MGenReviews

肥大型心筋症

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.86675G>A (p.Trp28892Ter)	TTN	Likely pathogenic	2	179424184	179424184	C	T	criteria provided, single submitter	ClinGen:CA10581838
single nucleotide variant	NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)	TTN	Pathogenic/Likely pathogenic	2	179434142	179434142	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581841
Insertion	NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)	TTN	Pathogenic	2	179434679	179434680	A	AAGGAGGGCTTGGTTCACTAAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581842
Deletion	NM_001267550.2(TTN):c.74608del (p.Ala24870fs)	TTN	Pathogenic/Likely pathogenic	2	179436251	179436251	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581845
single nucleotide variant	NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)	TTN	Likely pathogenic	2	179441418	179441418	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581850
single nucleotide variant	NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)	TTN	Pathogenic/Likely pathogenic	2	179454531	179454531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581854
single nucleotide variant	NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)	TTN	Likely pathogenic	2	179463336	179463336	G	T	criteria provided, single submitter	ClinGen:CA10581861
single nucleotide variant	NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp)	PRKAG2	Likely pathogenic	7	151265834	151265834	G	C	criteria provided, single submitter	ClinGen:CA10582471
Deletion	NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs)	MYBPC3	Pathogenic	11	47363692	47363699	CACCTCCAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582918
Duplication	NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter)	MYBPC3	Pathogenic	11	47364686	47364687	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582919

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