ファブリー病 - MGenReviews

ファブリー病

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_000169.3(GLA):c.274G>A (p.Asp92Asn)	GLA	Pathogenic	X	100658894	100658894	C	T	criteria provided, single submitter	ClinGen:CA16616754
single nucleotide variant	NM_000169.3(GLA):c.670A>G (p.Asn224Asp)	GLA	Pathogenic	X	100653904	100653904	T	C	criteria provided, single submitter	ClinGen:CA413924981
single nucleotide variant	NM_000169.3(GLA):c.708G>T (p.Trp236Cys)	GLA	Pathogenic/Likely pathogenic	X	100653866	100653866	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413924684
single nucleotide variant	NM_000169.3(GLA):c.667T>C (p.Cys223Arg)	GLA	Likely pathogenic	X	100653907	100653907	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA413925007
Deletion	NM_000169.3(GLA):c.26del (p.His9fs)	GLA	Pathogenic	X	100662866	100662866	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799820
single nucleotide variant	NM_000169.3(GLA):c.141G>C (p.Trp47Cys)	GLA	Pathogenic	X	100662751	100662751	C	G	criteria provided, single submitter	ClinGen:CA413937045
single nucleotide variant	NM_000169.3(GLA):c.828C>A (p.Ser276Arg)	GLA	Likely pathogenic	X	100653529	100653529	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA413923213
Duplication	NM_000169.3(GLA):c.786dup (p.Asn263fs)	GLA	Pathogenic	X	100653787	100653788	T	TC	criteria provided, single submitter	ClinGen:CA658799813
Deletion	NM_000169.3(GLA):c.640-1del	GLA	Likely pathogenic	X	100653935	100653935	GC	G	criteria provided, single submitter	ClinGen:CA658799814
single nucleotide variant	NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)	GLA	Pathogenic/Likely pathogenic	X	100653069	100653069	A	G	criteria provided, multiple submitters, no conflicts	-

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