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.1529C>G (p.Pro510Arg)	IDUA	Likely pathogenic	4	997137	997137	C	G	criteria provided, single submitter	ClinGen:CA274951
single nucleotide variant	NM_000203.5(IDUA):c.1524+1G>T	IDUA	Likely pathogenic	4	996946	996946	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	IDUA	Pathogenic/Likely pathogenic	4	996908	996908	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802275
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_000203.5(IDUA):c.1456G>T (p.Glu486Ter)	IDUA	Pathogenic	4	996877	996877	G	T	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	-
single nucleotide variant	NM_000203.5(IDUA):c.1403-1G>T	IDUA	Pathogenic/Likely pathogenic	4	996823	996823	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1402+2T>G	IDUA	Pathogenic	4	996734	996734	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1402+1G>A	IDUA	Likely pathogenic	4	996733	996733	G	A	criteria provided, single submitter	-