ゴーシェ病 - MGenReviews

ゴーシェ病

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
Deletion	NM_000157.4(GBA1):c.222_224del (p.Thr75del)	GBA1	Pathogenic/Likely pathogenic	1	155209760	155209762	GGTA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.762-1G>C	GBA1	Pathogenic/Likely pathogenic	1	155207370	155207370	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)	GBA1	Pathogenic/Likely pathogenic	1	155207977	155207977	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	GBA1	Pathogenic/Likely pathogenic	1	155207203	155207203	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)	GBA1	Pathogenic/Likely pathogenic	1	155204794	155204794	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1141476,UniProtKB:P04062#VAR_003327,ClinVar:424820
single nucleotide variant	NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	GBA1	Pathogenic/Likely pathogenic	1	155207965	155207965	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221411,UniProtKB:P04062#VAR_003279
single nucleotide variant	NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)	GBA1	Pathogenic/Likely pathogenic	1	155208005	155208005	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA221409,UniProtKB:P04062#VAR_003275
single nucleotide variant	NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)	GBA1	Pathogenic/Likely pathogenic	1	155208061	155208061	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221403,UniProtKB:P04062#VAR_032404
single nucleotide variant	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1	Pathogenic/Likely pathogenic	1	155205043	155205043	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040607
single nucleotide variant	NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)	GBA1	Pathogenic/Likely pathogenic	1	155205620	155205620	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221390,UniProtKB:P04062#VAR_010068

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