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

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.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.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.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.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.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