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.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.501C>G (p.Tyr167Ter)	IDUA	Pathogenic	4	995263	995263	C	G	criteria provided, single submitter	ClinGen:CA220511
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.299+1G>T	IDUA	Pathogenic/Likely pathogenic	4	981738	981738	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220508
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.1650+5G>A	IDUA	Pathogenic/Likely pathogenic	4	997263	997263	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220504
single nucleotide variant	NM_000203.5(IDUA):c.1402+1G>C	IDUA	Pathogenic	4	996733	996733	G	C	criteria provided, single submitter	ClinGen:CA220502
single nucleotide variant	NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)	IDUA	Pathogenic/Likely pathogenic	4	996129	996129	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220497,UniProtKB:P35475#VAR_003362
single nucleotide variant	NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	IDUA	Pathogenic	4	996121	996121	T	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P35475#VAR_017436,OMIM:252800.0020,ClinGen:CA256128
single nucleotide variant	NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	IDUA	Pathogenic	4	996175	996175	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256126,OMIM:252800.0018