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.1171G>C (p.Val391Leu)	GBA1	Pathogenic/Likely pathogenic	1	155206089	155206089	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221384,UniProtKB:P04062#VAR_010065
single nucleotide variant	NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)	GBA1	Likely pathogenic	1	155206170	155206170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221381,UniProtKB:P04062#VAR_003296,OMIM:606463.0030
single nucleotide variant	NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)	GBA1	Pathogenic/Likely pathogenic	1	155206175	155206175	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P04062#VAR_003294,OMIM:606463.0017,ClinGen:CA253074
single nucleotide variant	NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)	GBA1	Likely pathogenic	1	155206208	155206208	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342717600
single nucleotide variant	NM_000157.4(GBA1):c.1049A>G (p.His350Arg)	GBA1	Likely pathogenic	1	155206211	155206211	T	C	criteria provided, single submitter	ClinGen:CA253105,UniProtKB:P04062#VAR_009044,OMIM:606463.0037
Deletion	NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer)	GBA1	Pathogenic	1	155206231	155206231	CA	C	criteria provided, single submitter	ClinGen:CA421022126
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.896T>C (p.Ile299Thr)	GBA1	Likely pathogenic	1	155207235	155207235	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275428
single nucleotide variant	NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)	GBA1	Pathogenic	1	155207244	155207244	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA221417,UniProtKB:P04062#VAR_003284,OMIM:606463.0041
single nucleotide variant	NM_000157.4(GBA1):c.886C>T (p.Arg296Ter)	GBA1	Pathogenic	1	155207245	155207245	G	A	criteria provided, single submitter	-

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