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
single nucleotide variant	NM_000157.4(GBA1):c.1357C>T (p.Gln453Ter)	GBA1	Pathogenic	1	155205503	155205503	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)	GBA1	Likely pathogenic	1	155205610	155205610	C	T	criteria provided, single submitter	-
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.653G>A (p.Trp218Ter)	GBA1	Pathogenic	1	155208033	155208033	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000157.4(GBA1):c.595_596del (p.Leu199fs)	GBA1	Pathogenic	1	155208090	155208091	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000157.4(GBA1):c.497A>T (p.Asp166Val)	GBA1	Likely pathogenic	1	155208399	155208399	T	A	criteria provided, single submitter	-
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	-
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	-

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