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
Deletion	NC_000002.11:g.(?_219135239)_(220290732_?)del	DES	Pathogenic	2	219135239	220290732	na	na	criteria provided, single submitter	-
Duplication	NM_004415.4(DSP):c.1282dup (p.Ile428fs)	DSP	Pathogenic	6	7568681	7568682	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter)	DSP	Pathogenic	6	7580780	7580780	C	T	criteria provided, single submitter	-
Indel	NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter)	DSP	Pathogenic	6	7558404	7558405	GT	AA	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.1582C>T (p.Gln528Ter)	DSP	Pathogenic	6	7570677	7570677	C	T	criteria provided, single submitter	-
Duplication	NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter)	DSP	Pathogenic	6	7579712	7579713	C	CTA	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)	DSP	Pathogenic/Likely pathogenic	6	7580458	7580462	AAAATG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004415.4(DSP):c.7075del (p.Ile2359fs)	DSP	Pathogenic	6	7584570	7584570	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.778-2A>G	DSP	Likely pathogenic	6	7565590	7565590	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.2725C>T (p.Gln909Ter)	DSP	Pathogenic	6	7576621	7576621	C	T	criteria provided, multiple submitters, no conflicts	-

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