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
Deletion	NC_000023.11:g.(?_38381322)_(38413090_?)del	OTC	Pathogenic	X	38240575	38272343	na	na	criteria provided, single submitter	-
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
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_000531.6(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.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.634G>T (p.Gly212Ter)	OTC	Pathogenic	X	38262964	38262964	G	T	criteria provided, single submitter	ClinGen:CA16621369
Deletion	NM_000531.6(OTC):c.216+1del	OTC	Pathogenic	X	38226682	38226682	AG	A	criteria provided, single submitter	ClinGen:CA10603589
single nucleotide variant	NM_000531.6(OTC):c.615G>C (p.Met205Ile)	OTC	Pathogenic	X	38262945	38262945	G	C	criteria provided, single submitter	ClinGen:CA312797
Deletion	NM_000531.6(OTC):c.562_563del (p.Gly188fs)	OTC	Pathogenic	X	38262892	38262893	AGG	A	criteria provided, single submitter	ClinGen:CA312803
Duplication	NM_000531.6(OTC):c.217-2dup	OTC	Pathogenic	X	38229046	38229047	T	TA	criteria provided, single submitter	ClinGen:CA312802