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_004415.4(DSP):c.1513G>T (p.Val505Phe)	DSP	Likely pathogenic	6	7569512	7569512	G	T	criteria provided, single submitter	ClinGen:CA004994
single nucleotide variant	NM_004415.4(DSP):c.1611G>A (p.Trp537Ter)	DSP	Pathogenic	6	7570706	7570706	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.2617C>T (p.Gln873Ter)	DSP	Pathogenic	6	7575708	7575708	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.2644G>T (p.Glu882Ter)	DSP	Pathogenic	6	7576540	7576540	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005467
Duplication	NM_004415.4(DSP):c.3049_3050dup (p.Leu1017fs)	DSP	Likely pathogenic	6	7578759	7578760	C	CTT	criteria provided, single submitter	ClinGen:CA303974
Deletion	NM_004415.4(DSP):c.3419del (p.Asp1140fs)	DSP	Pathogenic	6	7579842	7579842	GA	G	criteria provided, single submitter	ClinGen:CA005795
Duplication	NM_004415.4(DSP):c.3426dup (p.Gln1143fs)	DSP	Pathogenic	6	7579848	7579849	T	TG	criteria provided, single submitter	ClinGen:CA303943
Deletion	NM_004415.4(DSP):c.3733del (p.Glu1245fs)	DSP	Likely pathogenic	6	7580154	7580154	AG	A	criteria provided, single submitter	ClinGen:CA005899
Duplication	NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)	DSP	Pathogenic	6	7580155	7580156	G	GGAAAATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA303944
single nucleotide variant	NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)	DSP	Pathogenic/Likely pathogenic	6	7580228	7580228	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004265

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