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.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.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.903A>T (p.Leu301Phe)	OTC	Pathogenic/Likely pathogenic	X	38271150	38271150	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224823,UniProtKB:P00480#VAR_012654
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.867+1126A>G	OTC	Likely pathogenic	X	38269404	38269404	A	G	criteria provided, multiple submitters, no conflicts	-
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.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.806G>A (p.Gly269Glu)	OTC	Likely pathogenic	X	38268217	38268217	G	A	criteria provided, single submitter	ClinGen:CA224800,UniProtKB:P00480#VAR_004926
single nucleotide variant	NM_000531.6(OTC):c.803T>C (p.Met268Thr)	OTC	Pathogenic/Likely pathogenic	X	38268214	38268214	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224799,UniProtKB:P00480#VAR_004925
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