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.365A>G (p.Glu122Gly)	OTC	Likely pathogenic	X	38240661	38240661	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412718508
single nucleotide variant	NM_000531.6(OTC):c.868-2A>T	OTC	Likely pathogenic	X	38271113	38271113	A	T	criteria provided, single submitter	ClinGen:CA16621370
single nucleotide variant	NM_000531.6(OTC):c.959G>T (p.Arg320Leu)	OTC	Likely pathogenic	X	38271206	38271206	G	T	criteria provided, single submitter	ClinGen:CA224858,UniProtKB:P00480#VAR_004938
single nucleotide variant	NM_000531.6(OTC):c.943G>T (p.Val315Phe)	OTC	Likely pathogenic	X	38271190	38271190	G	T	criteria provided, single submitter	ClinGen:CA224846
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.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.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.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.621C>A (p.Ser207Arg)	OTC	Likely pathogenic	X	38262951	38262951	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224715,UniProtKB:P00480#VAR_004907