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_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	IDUA	Pathogenic	4	998179	998179	T	G	criteria provided, single submitter	ClinGen:CA256121,OMIM:252800.0013
single nucleotide variant	NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter)	IDUA	Likely pathogenic	4	998133	998133	C	A	criteria provided, single submitter	ClinGen:CA91172399
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.1898C>G (p.Ser633Trp)	IDUA	Pathogenic/Likely pathogenic	4	998117	998117	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605410
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.1893del (p.Phe632fs)	IDUA	Likely pathogenic	4	998109	998109	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683377
Deletion	NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)	IDUA	Likely pathogenic	4	998083	998107	AGCCCTGGACTACTGGGCCCGACCAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)	IDUA	Pathogenic	4	998101	998101	C	T	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	-
single nucleotide variant	NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	IDUA	Pathogenic	4	998080	998080	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256118,OMIM:252800.0010