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.995G>A (p.Trp332Ter)	OTC	Pathogenic	X	38271242	38271242	G	A	criteria provided, single submitter	ClinGen:CA224869
single nucleotide variant	NM_000531.6(OTC):c.958C>T (p.Arg320Ter)	OTC	Pathogenic	X	38271205	38271205	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA285809
single nucleotide variant	NM_000531.6(OTC):c.944T>G (p.Val315Gly)	OTC	Pathogenic	X	38271191	38271191	T	G	criteria provided, single submitter	ClinGen:CA224850
single nucleotide variant	NM_000531.6(OTC):c.944T>A (p.Val315Asp)	OTC	Pathogenic	X	38271191	38271191	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224848
single nucleotide variant	NM_000531.6(OTC):c.907T>G (p.Cys303Gly)	OTC	Pathogenic	X	38271154	38271154	T	G	criteria provided, single submitter	ClinGen:CA224831
single nucleotide variant	NM_000531.6(OTC):c.830G>A (p.Arg277Gln)	OTC	Pathogenic	X	38268241	38268241	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224808,UniProtKB:P00480#VAR_004929
single nucleotide variant	NM_000531.6(OTC):c.790A>G (p.Thr264Ala)	OTC	Pathogenic	X	38268201	38268201	A	G	criteria provided, single submitter	ClinGen:CA224789,UniProtKB:P00480#VAR_004922
single nucleotide variant	NM_000531.6(OTC):c.77+1G>A	OTC	Pathogenic	X	38212027	38212027	G	A	criteria provided, single submitter	ClinGen:CA224773
single nucleotide variant	NM_000531.6(OTC):c.717+1G>A	OTC	Pathogenic	X	38268049	38268049	G	A	criteria provided, single submitter	ClinGen:CA224752
single nucleotide variant	NM_000531.6(OTC):c.67C>T (p.Arg23Ter)	OTC	Pathogenic	X	38212016	38212016	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224742