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.673C>T (p.Pro225Ser)	OTC	Likely pathogenic	X	38268004	38268004	C	T	criteria provided, single submitter	ClinGen:CA327910816
single nucleotide variant	NM_000531.6(OTC):c.298+2T>G	OTC	Pathogenic	X	38229132	38229132	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412717048
single nucleotide variant	NM_000531.6(OTC):c.494A>G (p.Asp165Gly)	OTC	Likely pathogenic	X	38260635	38260635	A	G	criteria provided, single submitter	ClinGen:CA412723703
single nucleotide variant	NM_000531.6(OTC):c.540+1G>T	OTC	Pathogenic	X	38260682	38260682	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412724240
single nucleotide variant	NM_000531.6(OTC):c.540+265G>A	OTC	Pathogenic	X	38260946	38260946	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658977
single nucleotide variant	NM_000531.5(OTC):c.-142G>A	OTC	Likely pathogenic	X	38211808	38211808	G	A	criteria provided, single submitter	ClinGen:CA658799698
single nucleotide variant	NM_000531.6(OTC):c.228A>C (p.Leu76Phe)	OTC	Likely pathogenic	X	38229060	38229060	A	C	criteria provided, single submitter	ClinGen:CA412716809
single nucleotide variant	NM_000531.6(OTC):c.593A>G (p.Asn198Ser)	OTC	Pathogenic	X	38262923	38262923	A	G	criteria provided, single submitter	ClinGen:CA412725470
Deletion	NC_000023.11:g.(?_38381322)_(38413090_?)del	OTC	Pathogenic	X	38240575	38272343	na	na	criteria provided, single submitter	-
Duplication	NM_000531.6(OTC):c.77+2dup	OTC	Likely pathogenic	X	38212027	38212028	G	GT	criteria provided, single submitter	-