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.1898C>T (p.Ser633Leu)	IDUA	Pathogenic	4	998117	998117	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.385+1G>C	IDUA	Pathogenic	4	994486	994486	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.300-1G>A	IDUA	Likely pathogenic	4	994399	994399	G	A	criteria provided, single submitter	-
Duplication	NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)	IDUA	Likely pathogenic	4	994771	994772	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.494-1G>A	IDUA	Pathogenic	4	995255	995255	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.589+1G>A	IDUA	Likely pathogenic	4	995352	995352	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000203.5(IDUA):c.542dup (p.Asn181fs)	IDUA	Pathogenic/Likely pathogenic	4	995302	995303	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.793-1G>A	IDUA	Pathogenic/Likely pathogenic	4	995769	995769	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	IDUA	Pathogenic	4	995483	995483	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)	IDUA	Pathogenic/Likely pathogenic	4	995500	995500	G	A	criteria provided, multiple submitters, no conflicts	-

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