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.8014C>T (p.Gln2672Ter)	DSP	Pathogenic	6	7585509	7585509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618328
single nucleotide variant	NM_001005242.3(PKP2):c.2357+4A>C	PKP2	Pathogenic	12	32949039	32949039	T	G	criteria provided, single submitter	ClinGen:CA16619514
Deletion	NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)	PKP2	Pathogenic/Likely pathogenic	12	32975411	32975433	TTTCCTGCTTCGACTGCCAAAACA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619516
Deletion	NM_001005242.3(PKP2):c.1769del (p.Asn590fs)	PKP2	Pathogenic	12	32975471	32975471	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619517
Deletion	NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs)	PKP2	Pathogenic/Likely pathogenic	12	32993969	32993976	CATCCAGTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619518
Indel	NM_001005242.3(PKP2):c.1112_1114delinsTT (p.Ser371fs)	PKP2	Pathogenic	12	33021917	33021919	CAG	AA	criteria provided, single submitter	ClinGen:CA16619519
Deletion	NM_001005242.3(PKP2):c.326_336del (p.Asp109fs)	PKP2	Likely pathogenic	12	33031854	33031864	CCTTTAGCATGT	C	criteria provided, single submitter	ClinGen:CA16619520
single nucleotide variant	NM_024422.6(DSC2):c.2250+2T>C	DSC2	Pathogenic/Likely pathogenic	18	28650690	28650690	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620671
Deletion	NM_024422.6(DSC2):c.473del (p.Gln158fs)	DSC2	Likely pathogenic	18	28670992	28670992	CT	C	criteria provided, single submitter	ClinGen:CA16620674
Duplication	NM_024422.6(DSC2):c.101dup (p.Asn34fs)	DSC2	Likely pathogenic	18	28673574	28673575	A	AT	criteria provided, single submitter	ClinGen:CA16620675

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