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

1
2
3
...
10

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.1475G>C (p.Arg492Pro)	IDUA	Likely pathogenic	4	996896	996896	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA256120,UniProtKB:P35475#VAR_003375,OMIM:252800.0011
single nucleotide variant	NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg)	IDUA	Likely pathogenic	4	997137	997137	C	G	criteria provided, single submitter	ClinGen:CA274951
single nucleotide variant	NM_000203.5(IDUA):c.554A>C (p.His185Pro)	IDUA	Likely pathogenic	4	995316	995316	A	C	criteria provided, single submitter	ClinGen:CA16618019
single nucleotide variant	NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter)	IDUA	Likely pathogenic	4	998133	998133	C	A	criteria provided, single submitter	ClinGen:CA91172399
Deletion	NM_000203.5(IDUA):c.1893del (p.Phe632fs)	IDUA	Likely pathogenic	4	998109	998109	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683377
single nucleotide variant	NM_000203.5(IDUA):c.493+1G>A	IDUA	Likely pathogenic	4	994778	994778	G	A	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)	IDUA	Likely pathogenic	4	996127	996129	AACG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1402+1G>A	IDUA	Likely pathogenic	4	996733	996733	G	A	criteria provided, single submitter	-
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	-

1
2
3
...
10