ハーラー症候群

小児・神経疾患

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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.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.1727+1G>A	IDUA	Pathogenic/Likely pathogenic	4	997414	997414	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1650+5G>A	IDUA	Pathogenic/Likely pathogenic	4	997263	997263	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220504
single nucleotide variant	NM_000203.5(IDUA):c.1650+2C>G	IDUA	Likely pathogenic	4	997260	997260	C	G	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	-
Deletion	NM_000203.5(IDUA):c.1614del (p.His539fs)	IDUA	Pathogenic	4	997222	997222	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA234129,OMIM:252800.0009
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.1598C>T (p.Pro533Leu)	IDUA	Pathogenic/Likely pathogenic	4	997206	997206	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355965029
single nucleotide variant	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	IDUA	Pathogenic	4	997206	997206	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256112,UniProtKB:P35475#VAR_003378,OMIM:252800.0003
Deletion	NM_000203.5(IDUA):c.1591del (p.Arg531fs)	IDUA	Likely pathogenic	4	997199	997199	GC	G	criteria provided, single submitter	-