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.1829-1G>A	IDUA	Likely pathogenic	4	998047	998047	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000203.5(IDUA):c.1867del (p.Leu623fs)	IDUA	Likely pathogenic	4	998084	998084	GC	G	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)	IDUA	Likely pathogenic	4	998083	998107	AGCCCTGGACTACTGGGCCCGACCAG	A	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1897del (p.Ser633fs)	IDUA	Likely pathogenic	4	998116	998116	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.300-1G>A	IDUA	Likely pathogenic	4	994399	994399	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.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.1190-2A>T	IDUA	Likely pathogenic	4	996518	996518	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1650+2C>G	IDUA	Likely pathogenic	4	997260	997260	C	G	criteria provided, single submitter	-
Deletion	NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)	IDUA	Likely pathogenic	4	998064	998065	CTG	C	criteria provided, single submitter	-