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.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
single nucleotide variant	NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)	IDUA	Pathogenic	4	981630	981630	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256113,OMIM:252800.0006
single nucleotide variant	NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	IDUA	Pathogenic	4	998080	998080	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256118,OMIM:252800.0010
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.1469T>C (p.Leu490Pro)	IDUA	Pathogenic/Likely pathogenic	4	996890	996890	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220503,UniProtKB:P35475#VAR_003374,OMIM:252800.0012
single nucleotide variant	NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	IDUA	Pathogenic	4	998179	998179	T	G	criteria provided, single submitter	ClinGen:CA256121,OMIM:252800.0013
Duplication	NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	IDUA	Pathogenic	4	995488	995489	C	CCTGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA256123,OMIM:252800.0014
single nucleotide variant	NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	IDUA	Pathogenic	4	981704	981704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256124,UniProtKB:P35475#VAR_003354,OMIM:252800.0015
single nucleotide variant	NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	IDUA	Pathogenic	4	996175	996175	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256126,OMIM:252800.0018
single nucleotide variant	NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	IDUA	Pathogenic	4	996121	996121	T	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P35475#VAR_017436,OMIM:252800.0020,ClinGen:CA256128