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
Duplication	NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs)	LMNA	Pathogenic	1	156106936	156106937	C	CCCCCCTACCGA	criteria provided, single submitter	ClinGen:CA658795538
Indel	NM_004415.3(DSP):c.491_492delCCins15 (p.?)	DSP	Pathogenic	6	7559527	7559528	na	na	criteria provided, single submitter	-
Deletion	NM_024422.6(DSC2):c.34_35del (p.Gly12fs)	DSC2	Pathogenic/Likely pathogenic	18	28681900	28681901	TCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799018
Duplication	NM_004415.4(DSP):c.3788_3789dup (p.Thr1264fs)	DSP	Likely pathogenic	6	7580210	7580211	G	GCC	criteria provided, single submitter	ClinGen:CA658796712
Deletion	NM_024422.6(DSC2):c.77del (p.Ile26fs)	DSC2	Pathogenic/Likely pathogenic	18	28673599	28673599	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799017
single nucleotide variant	NM_004415.4(DSP):c.919C>T (p.Gln307Ter)	DSP	Likely pathogenic	6	7565733	7565733	C	T	criteria provided, single submitter	ClinGen:CA362674648
single nucleotide variant	NM_004415.4(DSP):c.226C>T (p.Gln76Ter)	DSP	Likely pathogenic	6	7556006	7556006	C	T	criteria provided, single submitter	ClinGen:CA362670785
Duplication	NM_004415.4(DSP):c.3474dup (p.Glu1159fs)	DSP	Pathogenic	6	7579896	7579897	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA005804
single nucleotide variant	NM_004415.4(DSP):c.1141-2A>T	DSP	Likely pathogenic	6	7568012	7568012	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362675879
Duplication	NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs)	PKP2	Likely pathogenic	12	33030838	33030839	C	CGGCCGCCT	criteria provided, single submitter	ClinGen:CA658797863

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