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	NM_000531.6(OTC):c.562_563del (p.Gly188fs)	OTC	Pathogenic	X	38262892	38262893	AGG	A	criteria provided, single submitter	ClinGen:CA312803
single nucleotide variant	NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)	OTC	Pathogenic	X	38262878	38262878	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224679,UniProtKB:P00480#VAR_004895
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+2T>C	OTC	Pathogenic	X	38260683	38260683	T	C	criteria provided, single submitter	ClinGen:CA221091
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.540G>C (p.Gln180His)	OTC	Pathogenic	X	38260681	38260681	G	C	criteria provided, single submitter	ClinGen:CA224674,UniProtKB:P00480#VAR_004892
single nucleotide variant	NM_000531.6(OTC):c.533C>T (p.Thr178Met)	OTC	Pathogenic	X	38260674	38260674	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224668,UniProtKB:P00480#VAR_004890
single nucleotide variant	NM_000531.6(OTC):c.506C>T (p.Pro169Leu)	OTC	Pathogenic	X	38260647	38260647	C	T	criteria provided, single submitter	ClinGen:CA224655
single nucleotide variant	NM_000531.6(OTC):c.505C>G (p.Pro169Ala)	OTC	Likely pathogenic	X	38260646	38260646	C	G	criteria provided, single submitter	ClinGen:CA224653
single nucleotide variant	NM_000531.6(OTC):c.503A>G (p.His168Arg)	OTC	Pathogenic	X	38260644	38260644	A	G	criteria provided, single submitter	ClinGen:CA224651,UniProtKB:P00480#VAR_004885