不整脈原性右室心筋症 - MGenReviews

不整脈原性右室心筋症

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_001035.3(RYR2):c.14683A>C (p.Asn4895His)	RYR2	Likely pathogenic	1	237993857	237993857	A	C	criteria provided, single submitter	-
Deletion	NM_001927.4(DES):c.226del (p.Thr76fs)	DES	Pathogenic	2	220283410	220283410	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001927.4(DES):c.1132_1153del (p.Lys378fs)	DES	Pathogenic	2	220286168	220286189	CTCAAGGATGAGATGGCCCGCCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.1237G>T (p.Glu413Ter)	DES	Pathogenic	2	220286275	220286275	G	T	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.330_334del (p.Phe111fs)	DSP	Pathogenic	6	7558403	7558407	GTGTTT	G	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.523C>T (p.Gln175Ter)	DSP	Pathogenic/Likely pathogenic	6	7559559	7559559	C	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs)	DSP	Pathogenic	6	7568814	7568815	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)	DSP	Pathogenic/Likely pathogenic	6	7571676	7571676	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)	DSP	Pathogenic	6	7571745	7571745	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)	DSP	Pathogenic	6	7574915	7574915	C	T	criteria provided, single submitter	-

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