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.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.1727+1G>A	IDUA	Pathogenic/Likely pathogenic	4	997414	997414	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)	IDUA	Pathogenic/Likely pathogenic	4	996129	996129	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)	IDUA	Pathogenic/Likely pathogenic	4	995770	995770	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	IDUA	Pathogenic/Likely pathogenic	4	981703	981703	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1728-2A>G	IDUA	Pathogenic/Likely pathogenic	4	997798	997798	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	IDUA	Pathogenic/Likely pathogenic	4	996232	996232	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1828+1G>C	IDUA	Pathogenic/Likely pathogenic	4	997901	997901	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)	IDUA	Pathogenic/Likely pathogenic	4	997815	997815	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)	IDUA	Pathogenic/Likely pathogenic	4	995797	995797	G	T	criteria provided, multiple submitters, no conflicts	-