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.830G>A (p.Arg277Gln)	OTC	Pathogenic	X	38268241	38268241	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224808,UniProtKB:P00480#VAR_004929
single nucleotide variant	NM_000531.6(OTC):c.806G>A (p.Gly269Glu)	OTC	Likely pathogenic	X	38268217	38268217	G	A	criteria provided, single submitter	ClinGen:CA224800,UniProtKB:P00480#VAR_004926
single nucleotide variant	NM_000531.6(OTC):c.803T>C (p.Met268Thr)	OTC	Pathogenic/Likely pathogenic	X	38268214	38268214	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224799,UniProtKB:P00480#VAR_004925
single nucleotide variant	NM_000531.6(OTC):c.790A>G (p.Thr264Ala)	OTC	Pathogenic	X	38268201	38268201	A	G	criteria provided, single submitter	ClinGen:CA224789,UniProtKB:P00480#VAR_004922
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
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.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.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.717+1G>A	OTC	Pathogenic	X	38268049	38268049	G	A	criteria provided, single submitter	ClinGen:CA224752
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