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.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.1469T>C (p.Leu490Pro)	IDUA	Pathogenic/Likely pathogenic	4	996890	996890	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220503,UniProtKB:P35475#VAR_003374,OMIM:252800.0012
single nucleotide variant	NM_000203.5(IDUA):c.1728-1G>A	IDUA	Pathogenic	4	997799	997799	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)	IDUA	Pathogenic	4	981616	981616	C	T	criteria provided, single submitter	-
Duplication	NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)	IDUA	Pathogenic	4	981607	981608	C	CCACACAGCCAGGCTGACCAGTACGTCCTCAGCTGGGACCA	criteria provided, single submitter	-
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.1456G>T (p.Glu486Ter)	IDUA	Pathogenic	4	996877	996877	G	T	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)	IDUA	Pathogenic	4	996536	996536	G	A	criteria provided, multiple submitters, no conflicts	-
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	-