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.793-1G>A	IDUA	Pathogenic/Likely pathogenic	4	995769	995769	G	A	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.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.494-1G>A	IDUA	Pathogenic	4	995255	995255	G	A	criteria provided, single submitter	-
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.300-1G>A	IDUA	Likely pathogenic	4	994399	994399	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.385+1G>C	IDUA	Pathogenic	4	994486	994486	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	IDUA	Pathogenic	4	998117	998117	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000203.5(IDUA):c.1897del (p.Ser633fs)	IDUA	Likely pathogenic	4	998116	998116	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)	IDUA	Likely pathogenic	4	998083	998107	AGCCCTGGACTACTGGGCCCGACCAG	A	criteria provided, single submitter	-