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_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)	MYPN	Pathogenic	10	69957164	69957164	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16044352,OMIM:608517.0011
single nucleotide variant	NM_000257.4(MYH7):c.2191C>A (p.Pro731Thr)	MYH7	Likely pathogenic	14	23894999	23894999	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603250
Deletion	NM_022114.4(PRDM16):c.827del (p.Gly276fs)	PRDM16	Pathogenic	1	3319504	3319504	TG	T	criteria provided, single submitter	ClinGen:CA16603332
single nucleotide variant	NM_001276345.2(TNNT2):c.421C>G (p.Arg141Gly)	TNNT2	Likely pathogenic	1	201333494	201333494	G	C	criteria provided, single submitter	ClinGen:CA16603524
single nucleotide variant	NM_001267550.2(TTN):c.91271-1G>A	TTN	Likely pathogenic	2	179415988	179415988	C	T	criteria provided, single submitter	ClinGen:CA16603864
single nucleotide variant	NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)	TTN	Likely pathogenic	2	179425345	179425345	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603877
single nucleotide variant	NM_001267550.2(TTN):c.68498C>G (p.Ser22833Ter)	TTN	Pathogenic	2	179442744	179442744	G	C	criteria provided, single submitter	ClinGen:CA16603885
single nucleotide variant	NM_001267550.2(TTN):c.66769+1G>A	TTN	Likely pathogenic	2	179446225	179446225	C	T	criteria provided, single submitter	ClinGen:CA16603886
single nucleotide variant	NM_001267550.2(TTN):c.88594+2T>G	TTN	Likely pathogenic	2	179419590	179419590	A	C	criteria provided, single submitter	ClinGen:CA16603990
single nucleotide variant	NM_001267550.2(TTN):c.77212C>T (p.Gln25738Ter)	TTN	Likely pathogenic	2	179433647	179433647	G	A	criteria provided, single submitter	ClinGen:CA16603992

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