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
Duplication	NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)	IDUA	Likely pathogenic	4	994771	994772	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.493+1G>A	IDUA	Likely pathogenic	4	994778	994778	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.494-1G>C	IDUA	Pathogenic	4	995255	995255	G	C	criteria provided, single submitter	ClinGen:CA275298
single nucleotide variant	NM_000203.5(IDUA):c.494-1G>A	IDUA	Pathogenic	4	995255	995255	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)	IDUA	Pathogenic	4	995263	995263	C	G	criteria provided, single submitter	ClinGen:CA220511
single nucleotide variant	NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	IDUA	Pathogenic/Likely pathogenic	4	995298	995298	C	G	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	-
single nucleotide variant	NM_000203.5(IDUA):c.554A>C (p.His185Pro)	IDUA	Likely pathogenic	4	995316	995316	A	C	criteria provided, single submitter	ClinGen:CA16618019
single nucleotide variant	NM_000203.5(IDUA):c.589+1G>A	IDUA	Likely pathogenic	4	995352	995352	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.590-7G>A	IDUA	Pathogenic	4	995460	995460	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356990,OMIM:252800.0004