特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

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_170707.4(LMNA):c.356+1G>C	LMNA	Pathogenic/Likely pathogenic	1	156085066	156085066	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576364
Deletion	NM_170707.4(LMNA):c.476del (p.Glu159fs)	LMNA	Likely pathogenic	1	156100527	156100527	GA	G	criteria provided, single submitter	ClinGen:CA10576366
single nucleotide variant	NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)	LMNA	Likely pathogenic	1	156105865	156105865	C	G	criteria provided, single submitter	ClinGen:CA10576367
single nucleotide variant	NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)	TNNT2	Pathogenic	1	201332477	201332477	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576372
Indel	NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr)	TNNT2	Likely pathogenic	1	201334375	201334376	GA	AC	criteria provided, single submitter	ClinGen:CA10576373
single nucleotide variant	NM_001267550.2(TTN):c.99866-1G>A	TTN	Likely pathogenic	2	179401971	179401971	C	T	criteria provided, single submitter	ClinGen:CA10576454
single nucleotide variant	NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter)	TTN	Likely pathogenic	2	179408603	179408603	G	A	criteria provided, single submitter	ClinGen:CA10576457
single nucleotide variant	NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)	TTN	Pathogenic/Likely pathogenic	2	179424422	179424422	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576468
single nucleotide variant	NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter)	TTN	Likely pathogenic	2	179425349	179425349	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576469
single nucleotide variant	NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter)	TTN	Likely pathogenic	2	179430365	179430365	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576478

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