オルニチントランスカルバミラーゼ欠損症

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_000531.6(OTC):c.626C>T (p.Ala209Val)	OTC	Pathogenic	X	38262956	38262956	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224717,UniProtKB:P00480#VAR_004909
single nucleotide variant	NM_000531.6(OTC):c.659C>T (p.Pro220Leu)	OTC	Likely pathogenic	X	38262989	38262989	C	T	criteria provided, single submitter	ClinGen:CA224728
single nucleotide variant	NM_000531.6(OTC):c.663+1G>T	OTC	Pathogenic	X	38262994	38262994	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224731
single nucleotide variant	NM_000531.6(OTC):c.663+2T>C	OTC	Pathogenic	X	38262995	38262995	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224732
single nucleotide variant	NM_000531.6(OTC):c.67C>T (p.Arg23Ter)	OTC	Pathogenic	X	38212016	38212016	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224742
single nucleotide variant	NM_000531.6(OTC):c.717+1G>A	OTC	Pathogenic	X	38268049	38268049	G	A	criteria provided, single submitter	ClinGen:CA224752
single nucleotide variant	NM_000531.6(OTC):c.717G>A (p.Glu239=)	OTC	Likely pathogenic	X	38268048	38268048	G	A	criteria provided, single submitter	ClinGen:CA224757
single nucleotide variant	NM_000531.6(OTC):c.717G>C (p.Glu239Asp)	OTC	Likely pathogenic	X	38268048	38268048	G	C	criteria provided, single submitter	ClinGen:CA224759
single nucleotide variant	NM_000531.6(OTC):c.77+1G>A	OTC	Pathogenic	X	38212027	38212027	G	A	criteria provided, single submitter	ClinGen:CA224773
single nucleotide variant	NM_000531.6(OTC):c.788A>G (p.Asp263Gly)	OTC	Likely pathogenic	X	38268199	38268199	A	G	criteria provided, single submitter	ClinGen:CA224788,UniProtKB:P00480#VAR_004920