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.1044C>G (p.Asn348Lys)	IDUA	Pathogenic/Likely pathogenic	4	996128	996128	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)	IDUA	Pathogenic/Likely pathogenic	4	996604	996605	A	ACCGCCCC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1402+2T>G	IDUA	Pathogenic	4	996734	996734	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1650+1G>A	IDUA	Likely pathogenic	4	997259	997259	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1829-2A>G	IDUA	Likely pathogenic	4	998046	998046	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1829-1G>A	IDUA	Likely pathogenic	4	998047	998047	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	IDUA	Pathogenic	4	998073	998073	C	A	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1867del (p.Leu623fs)	IDUA	Likely pathogenic	4	998084	998084	GC	G	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)	IDUA	Likely pathogenic	4	998083	998107	AGCCCTGGACTACTGGGCCCGACCAG	A	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1897del (p.Ser633fs)	IDUA	Likely pathogenic	4	998116	998116	CT	C	criteria provided, multiple submitters, no conflicts	-

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