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
Deletion	NM_004006.3(DMD):c.1070del (p.Ser357fs)	DMD	Pathogenic	X	32663160	32663160	AG	A	criteria provided, single submitter	ClinGen:CA274938
Insertion	NM_001079802.1(FKTN):c.4375_4376ins3062	FKTN	Pathogenic	9	108401920	108401921	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)	DMD	Pathogenic	X	32662294	32662294	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274957
single nucleotide variant	NM_004006.3(DMD):c.1150-2A>G	DMD	Pathogenic	X	32662432	32662432	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274958
single nucleotide variant	NM_004006.3(DMD):c.1704+1G>A	DMD	Pathogenic	X	32591861	32591861	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275009
single nucleotide variant	NM_004006.3(DMD):c.1912C>T (p.Gln638Ter)	DMD	Pathogenic	X	32583899	32583899	G	A	criteria provided, single submitter	ClinGen:CA275035
Deletion	NM_004006.3(DMD):c.2601_2602del (p.Gln869fs)	DMD	Pathogenic	X	32509414	32509415	CTT	C	criteria provided, single submitter	ClinGen:CA275097
single nucleotide variant	NM_004006.3(DMD):c.2479G>T (p.Glu827Ter)	DMD	Pathogenic	X	32509537	32509537	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346862
single nucleotide variant	NM_004006.3(DMD):c.2803+1G>C	DMD	Pathogenic	X	32503035	32503035	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275105
Duplication	NM_001267550.2(TTN):c.49336dup (p.Tyr16446fs)	TTN	Likely pathogenic	2	179478787	179478788	T	TA	criteria provided, single submitter	ClinGen:CA275108

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