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.385+1G>C	IDUA	Pathogenic	4	994486	994486	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.300-1G>A	IDUA	Likely pathogenic	4	994399	994399	G	A	criteria provided, single submitter	-
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.266G>A (p.Arg89Gln)	IDUA	Pathogenic	4	981704	981704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256124,UniProtKB:P35475#VAR_003354,OMIM:252800.0015
single nucleotide variant	NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	IDUA	Pathogenic/Likely pathogenic	4	981703	981703	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	IDUA	Pathogenic	4	981661	981661	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356994,UniProtKB:P35475#VAR_003352
single nucleotide variant	NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)	IDUA	Pathogenic	4	981630	981630	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA256113,OMIM:252800.0006
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	-
Deletion	NM_000203.5(IDUA):c.164del (p.Pro55fs)	IDUA	Pathogenic	4	981597	981597	GC	G	criteria provided, single submitter	ClinGen:CA234127