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.422G>A (p.Arg141Gln)	OTC	Pathogenic	X	38260563	38260563	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224600,UniProtKB:P00480#VAR_004879,OMIM:300461.0002
single nucleotide variant	NM_000531.6(OTC):c.421C>T (p.Arg141Ter)	OTC	Pathogenic	X	38260562	38260562	C	T	criteria provided, single submitter	ClinGen:CA224598,OMIM:300461.0003
single nucleotide variant	NM_000531.6(OTC):c.460G>T (p.Glu154Ter)	OTC	Pathogenic	X	38260601	38260601	G	T	criteria provided, single submitter	ClinGen:CA224619,OMIM:300461.0006
single nucleotide variant	NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	OTC	Pathogenic/Likely pathogenic	X	38212026	38212026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255647,UniProtKB:P00480#VAR_004843,OMIM:300461.0008
single nucleotide variant	NM_000531.6(OTC):c.387-2A>T	OTC	Pathogenic	X	38260526	38260526	A	T	criteria provided, single submitter	ClinGen:CA224575,OMIM:300461.0013
single nucleotide variant	NM_000531.6(OTC):c.829C>T (p.Arg277Trp)	OTC	Pathogenic	X	38268240	38268240	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255648,UniProtKB:P00480#VAR_004930,OMIM:300461.0010,OMIM:300461.0014
single nucleotide variant	NM_000531.6(OTC):c.674C>T (p.Pro225Leu)	OTC	Pathogenic	X	38268005	38268005	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224741,UniProtKB:P00480#VAR_004913,OMIM:300461.0015
single nucleotide variant	NM_000531.6(OTC):c.912G>T (p.Leu304Phe)	OTC	Likely pathogenic	X	38271159	38271159	G	T	criteria provided, single submitter	ClinGen:CA224834,UniProtKB:P00480#VAR_004936,OMIM:300461.0023
single nucleotide variant	NM_000531.6(OTC):c.386G>A (p.Arg129His)	OTC	Pathogenic	X	38240682	38240682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224568,UniProtKB:P00480#VAR_004876,OMIM:300461.0025
single nucleotide variant	NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	OTC	Pathogenic/Likely pathogenic	X	38226584	38226584	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA090910,UniProtKB:P00480#VAR_004845,OMIM:300461.0028