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

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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.152G>A (p.Gly51Asp)	IDUA	Pathogenic	4	981024	981024	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274902,UniProtKB:P35475#VAR_003351
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.494-1G>C	IDUA	Pathogenic	4	995255	995255	G	C	criteria provided, single submitter	ClinGen:CA275298
single nucleotide variant	NM_000203.5(IDUA):c.972+1G>A	IDUA	Pathogenic	4	995950	995950	G	A	criteria provided, single submitter	ClinGen:CA275387
single nucleotide variant	NM_000203.5(IDUA):c.386-2A>G	IDUA	Pathogenic	4	994668	994668	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA356991
single nucleotide variant	NM_000203.5(IDUA):c.590-7G>A	IDUA	Pathogenic	4	995460	995460	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356990,OMIM:252800.0004
single nucleotide variant	NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	IDUA	Pathogenic	4	995530	995530	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA356986,UniProtKB:P35475#VAR_003358
single nucleotide variant	NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)	IDUA	Pathogenic	4	996113	996113	C	A	criteria provided, single submitter	ClinGen:CA356984
single nucleotide variant	NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	IDUA	Pathogenic	4	981661	981661	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356994,UniProtKB:P35475#VAR_003352
single nucleotide variant	NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	IDUA	Pathogenic/Likely pathogenic	4	995590	995590	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802065,UniProtKB:P35475#VAR_020980

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