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.548G>A (p.Gly183Asp)	GLA	Likely pathogenic	X	100655745	100655745	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.730G>C (p.Asp244His)	GLA	Likely pathogenic	X	100653844	100653844	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.748C>A (p.Gln250Lys)	GLA	Likely pathogenic	X	100653826	100653826	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.109G>C (p.Ala37Pro)	GLA	Pathogenic/Likely pathogenic	X	100662783	100662783	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.620A>C (p.Tyr207Ser)	GLA	Likely pathogenic	X	100655673	100655673	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.95T>C (p.Leu32Pro)	GLA	Pathogenic/Likely pathogenic	X	100662797	100662797	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000169.3(GLA):c.706T>A (p.Trp236Arg)	GLA	Pathogenic	X	100653868	100653868	A	T	criteria provided, single submitter	-
Indel	NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)	GLA	Pathogenic/Likely pathogenic	X	100662721	100662728	CTGGCAGT	TAGGCAGA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000169.3(GLA):c.800del (p.Met267fs)	GLA	Pathogenic	X	100653774	100653774	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000169.3(GLA):c.126G>C (p.Met42Ile)	GLA	Pathogenic	X	100662766	100662766	C	G	criteria provided, single submitter	-

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