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.1524+1G>T	IDUA	Likely pathogenic	4	996946	996946	G	T	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1591del (p.Arg531fs)	IDUA	Likely pathogenic	4	997199	997199	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1728-2A>G	IDUA	Pathogenic/Likely pathogenic	4	997798	997798	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	IDUA	Pathogenic	4	980873	980873	A	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)	IDUA	Likely pathogenic	4	980932	980933	GC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	IDUA	Likely pathogenic	4	980875	980875	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.159-1G>A	IDUA	Likely pathogenic	4	981596	981596	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	IDUA	Pathogenic/Likely pathogenic	4	981703	981703	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000203.5(IDUA):c.390del (p.Phe130fs)	IDUA	Likely pathogenic	4	994672	994672	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)	IDUA	Pathogenic/Likely pathogenic	4	995770	995770	G	C	criteria provided, multiple submitters, no conflicts	-

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