ハーラー症候群

小児・神経疾患

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
Deletion	NM_000203.5(IDUA):c.1602del (p.Leu535fs)	IDUA	Pathogenic/Likely pathogenic	4	997210	997210	CG	C	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	-
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	-
Duplication	NM_000203.5(IDUA):c.542dup (p.Asn181fs)	IDUA	Pathogenic/Likely pathogenic	4	995302	995303	G	GA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)	IDUA	Pathogenic/Likely pathogenic	4	996604	996605	A	ACCGCCCC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)	IDUA	Pathogenic/Likely pathogenic	4	996128	996128	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)	IDUA	Pathogenic/Likely pathogenic	4	996113	996113	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)	IDUA	Pathogenic/Likely pathogenic	4	995851	995852	G	GACACCCCCATTT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1728-1G>C	IDUA	Pathogenic/Likely pathogenic	4	997799	997799	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)	IDUA	Pathogenic/Likely pathogenic	4	996842	996843	G	GCT	criteria provided, multiple submitters, no conflicts	-