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.1524+1G>T	IDUA	Likely pathogenic	4	996946	996946	G	T	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1591del (p.Arg531fs)	IDUA	Likely pathogenic	4	997199	997199	GC	G	criteria provided, single submitter	-
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.3G>A (p.Met1Ile)	IDUA	Likely pathogenic	4	980875	980875	G	A	criteria provided, multiple submitters, no conflicts	-
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.390del (p.Phe130fs)	IDUA	Likely pathogenic	4	994672	994672	GT	G	criteria provided, single submitter	-
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_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	IDUA	Pathogenic	4	998179	998179	T	G	criteria provided, single submitter	ClinGen:CA256121,OMIM:252800.0013