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.1728-1G>C	IDUA	Pathogenic/Likely pathogenic	4	997799	997799	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)	IDUA	Pathogenic/Likely pathogenic	4	996842	996843	G	GCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1402+1G>A	IDUA	Likely pathogenic	4	996733	996733	G	A	criteria provided, single submitter	-
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	-
Deletion	NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)	IDUA	Likely pathogenic	4	996127	996129	AACG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	IDUA	Pathogenic/Likely pathogenic	4	995298	995298	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.493+1G>A	IDUA	Likely pathogenic	4	994778	994778	G	A	criteria provided, single submitter	-
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.1487C>G (p.Pro496Arg)	IDUA	Pathogenic/Likely pathogenic	4	996908	996908	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802275