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_001927.4(DES):c.1195G>T (p.Asp399Tyr)	DES	Likely pathogenic	2	220286233	220286233	G	T	criteria provided, single submitter	ClinGen:CA217032,UniProtKB:P17661#VAR_067210
single nucleotide variant	NM_001927.4(DES):c.1201G>A (p.Glu401Lys)	DES	Likely pathogenic	2	220286239	220286239	G	A	criteria provided, single submitter	ClinGen:CA284671,UniProtKB:P17661#VAR_067211
single nucleotide variant	NM_001927.4(DES):c.1237G>A (p.Glu413Lys)	DES	Pathogenic/Likely pathogenic	2	220286275	220286275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA284673
single nucleotide variant	NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	DES	Pathogenic/Likely pathogenic	2	220290442	220290442	A	C	criteria provided, multiple submitters, no conflicts	UniProtKB:P17661#VAR_042461,ClinGen:CA217038
single nucleotide variant	NM_001927.4(DES):c.137C>A (p.Ser46Tyr)	DES	Likely pathogenic	2	220283321	220283321	C	A	criteria provided, single submitter	ClinGen:CA217053,UniProtKB:P17661#VAR_042450
single nucleotide variant	NM_001927.4(DES):c.347A>G (p.Asn116Ser)	DES	Pathogenic/Likely pathogenic	2	220283531	220283531	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217067,UniProtKB:P17661#VAR_069191
single nucleotide variant	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES	Pathogenic/Likely pathogenic	2	220283219	220283219	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217069
single nucleotide variant	NM_001927.4(DES):c.735+3A>G	DES	Pathogenic	2	220285071	220285071	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA217084,OMIM:125660.0008
single nucleotide variant	NM_001927.4(DES):c.735G>C (p.Glu245Asp)	DES	Pathogenic/Likely pathogenic	2	220285068	220285068	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217085,UniProtKB:P17661#VAR_042452
single nucleotide variant	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105800	156105800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016479

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