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.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.1487C>G (p.Pro496Arg)	IDUA	Pathogenic/Likely pathogenic	4	996908	996908	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802275
single nucleotide variant	NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)	IDUA	Pathogenic/Likely pathogenic	4	996247	996247	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA91169370
Deletion	NM_000203.5(IDUA):c.876del (p.Asp292fs)	IDUA	Pathogenic/Likely pathogenic	4	995853	995853	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657370
single nucleotide variant	NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)	IDUA	Pathogenic/Likely pathogenic	4	997206	997206	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355965029
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
single nucleotide variant	NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	IDUA	Pathogenic/Likely pathogenic	4	995590	995590	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2802065,UniProtKB:P35475#VAR_020980
single nucleotide variant	NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	IDUA	Pathogenic/Likely pathogenic	4	996063	996063	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA234128,UniProtKB:P35475#VAR_003361
single nucleotide variant	NM_000203.5(IDUA):c.299+1G>T	IDUA	Pathogenic/Likely pathogenic	4	981738	981738	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220508
single nucleotide variant	NM_000203.5(IDUA):c.1650+5G>A	IDUA	Pathogenic/Likely pathogenic	4	997263	997263	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220504