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.1855C>T (p.Arg619Ter)	IDUA	Pathogenic	4	998074	998074	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802455
single nucleotide variant	NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	IDUA	Pathogenic	4	998073	998073	C	A	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	-
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	-
single nucleotide variant	NM_000203.5(IDUA):c.1829-2A>G	IDUA	Likely pathogenic	4	998046	998046	A	G	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	-
Deletion	NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)	IDUA	Pathogenic	4	997871	997871	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220505
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.1728-1G>A	IDUA	Pathogenic	4	997799	997799	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1728-1G>C	IDUA	Pathogenic/Likely pathogenic	4	997799	997799	G	C	criteria provided, multiple submitters, no conflicts	-