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.1402+1G>C	IDUA	Pathogenic	4	996733	996733	G	C	criteria provided, single submitter	ClinGen:CA220502
Duplication	NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)	IDUA	Pathogenic/Likely pathogenic	4	996604	996605	A	ACCGCCCC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)	IDUA	Pathogenic	4	996540	996540	G	T	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.1190-2A>T	IDUA	Likely pathogenic	4	996518	996518	A	T	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	IDUA	Pathogenic/Likely pathogenic	4	996232	996232	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	IDUA	Pathogenic	4	996223	996223	A	G	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)	IDUA	Pathogenic/Likely pathogenic	4	996129	996129	G	T	criteria provided, multiple submitters, no conflicts	-