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.159-1G>A	IDUA	Likely pathogenic	4	981596	981596	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.152G>A (p.Gly51Asp)	IDUA	Pathogenic	4	981024	981024	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274902,UniProtKB:P35475#VAR_003351
Indel	NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)	IDUA	Likely pathogenic	4	980932	980933	GC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	IDUA	Pathogenic	4	980907	980918	GCGCTCCTGGCCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220509
single nucleotide variant	NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	IDUA	Likely pathogenic	4	980875	980875	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	IDUA	Pathogenic	4	980874	980874	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	IDUA	Pathogenic	4	980873	980873	A	C	criteria provided, multiple submitters, no conflicts	-