筋ジストロフィー - MGenReviews

筋ジストロフィー

小児・神経疾患

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_004006.3(DMD):c.572C>G (p.Ser191Ter)	DMD	Pathogenic	X	32827687	32827687	G	C	criteria provided, single submitter	ClinGen:CA346888
single nucleotide variant	NM_004006.3(DMD):c.10554-2A>G	DMD	Pathogenic/Likely pathogenic	X	31165637	31165637	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275409
single nucleotide variant	NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)	SELENON	Pathogenic/Likely pathogenic	1	26138185	26138185	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275449
Deletion	NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)	SYNE1	Pathogenic	6	152615125	152615129	GCAAAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275455,OMIM:608441.0004
single nucleotide variant	NM_170707.4(LMNA):c.3G>T (p.Met1Ile)	LMNA	Pathogenic/Likely pathogenic	1	156084712	156084712	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018051
single nucleotide variant	NM_170707.4(LMNA):c.64T>G (p.Ser22Ala)	LMNA	Likely pathogenic	1	156084773	156084773	T	G	criteria provided, single submitter	ClinGen:CA018394
single nucleotide variant	NM_170707.4(LMNA):c.179G>C (p.Arg60Pro)	LMNA	Likely pathogenic	1	156084888	156084888	G	C	criteria provided, single submitter	ClinGen:CA017735
Deletion	NM_170707.4(LMNA):c.329del (p.Arg110fs)	LMNA	Likely pathogenic	1	156085038	156085038	CG	C	criteria provided, single submitter	ClinGen:CA017885
Duplication	NM_170707.4(LMNA):c.339dup (p.Lys114Ter)	LMNA	Likely pathogenic	1	156085045	156085046	G	GT	criteria provided, single submitter	ClinGen:CA306281
single nucleotide variant	NM_170707.4(LMNA):c.356+1G>A	LMNA	Pathogenic	1	156085066	156085066	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017954

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