ハーラー症候群 - MGenReviews

ハーラー症候群

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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_000203.5(IDUA):c.1190-2A>T	IDUA	Likely pathogenic	4	996518	996518	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000203.5(IDUA):c.1602del (p.Leu535fs)	IDUA	Pathogenic/Likely pathogenic	4	997210	997210	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)	IDUA	Pathogenic/Likely pathogenic	4	995797	995797	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1650+2C>G	IDUA	Likely pathogenic	4	997260	997260	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)	IDUA	Pathogenic/Likely pathogenic	4	997815	997815	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1828+1G>C	IDUA	Pathogenic/Likely pathogenic	4	997901	997901	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)	IDUA	Likely pathogenic	4	998064	998065	CTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)	IDUA	Pathogenic	4	998101	998101	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	IDUA	Pathogenic/Likely pathogenic	4	996232	996232	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)	IDUA	Pathogenic	4	996536	996536	G	A	criteria provided, multiple submitters, no conflicts	-

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