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.606C>A (p.Tyr202Ter)	IDUA	Pathogenic	4	995483	995483	C	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	-
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	-
single nucleotide variant	NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	IDUA	Pathogenic	4	998073	998073	C	A	criteria provided, single submitter	-
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.1210G>T (p.Glu404Ter)	IDUA	Pathogenic	4	996540	996540	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	IDUA	Pathogenic	4	996223	996223	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.158+1G>A	IDUA	Pathogenic	4	981031	981031	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA355945713
single nucleotide variant	NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	IDUA	Pathogenic	4	998074	998074	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802455