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.1A>C (p.Met1Leu)	IDUA	Pathogenic	4	980873	980873	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	IDUA	Pathogenic	4	980874	980874	T	C	criteria provided, single submitter	-
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	-
Deletion	NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	IDUA	Pathogenic	4	980907	980918	GCGCTCCTGGCCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220509
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.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.158+1G>A	IDUA	Pathogenic	4	981031	981031	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA355945713
single nucleotide variant	NM_000203.5(IDUA):c.159-1G>A	IDUA	Likely pathogenic	4	981596	981596	G	A	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.164del (p.Pro55fs)	IDUA	Pathogenic	4	981597	981597	GC	G	criteria provided, single submitter	ClinGen:CA234127
Duplication	NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)	IDUA	Pathogenic	4	981607	981608	C	CCACACAGCCAGGCTGACCAGTACGTCCTCAGCTGGGACCA	criteria provided, single submitter	-

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