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_170707.4(LMNA):c.949G>A (p.Glu317Lys)	LMNA	Pathogenic/Likely pathogenic	1	156105704	156105704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018878,UniProtKB:P02545#VAR_039775
Deletion	NM_170707.4(LMNA):c.958del (p.Leu320fs)	LMNA	Pathogenic	1	156105713	156105713	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018896
single nucleotide variant	NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)	LMNA	Pathogenic	1	156105716	156105716	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018909
single nucleotide variant	NM_001927.4(DES):c.1289-2A>G	DES	Pathogenic/Likely pathogenic	2	220290383	220290383	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA144512,OMIM:125660.0018
single nucleotide variant	NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	LMNA	Pathogenic/Likely pathogenic	1	156104600	156104600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018372,UniProtKB:P02545#VAR_039768
single nucleotide variant	NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	DES	Pathogenic/Likely pathogenic	2	220285665	220285665	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA216999,UniProtKB:P17661#VAR_067209
single nucleotide variant	NM_001927.4(DES):c.1024A>G (p.Asn342Asp)	DES	Pathogenic	2	220286062	220286062	A	G	criteria provided, single submitter	ClinGen:CA217001,UniProtKB:P17661#VAR_042453,OMIM:125660.0020
single nucleotide variant	NM_001927.4(DES):c.1069G>C (p.Ala357Pro)	DES	Pathogenic	2	220286107	220286107	G	C	criteria provided, single submitter	ClinGen:CA217007,UniProtKB:P17661#VAR_042456
Deletion	NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)	DES	Pathogenic	2	220286107	220286115	TGCCAGTGAG	T	criteria provided, single submitter	ClinGen:CA217009,OMIM:125660.0012
single nucleotide variant	NM_001927.4(DES):c.1109T>C (p.Leu370Pro)	DES	Pathogenic	2	220286147	220286147	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217018,UniProtKB:P17661#VAR_042457

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