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.1033T>C (p.Tyr345His)	OTC	Pathogenic	X	38280303	38280303	T	C	criteria provided, single submitter	ClinGen:CA224442
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.988A>G (p.Arg330Gly)	OTC	Pathogenic/Likely pathogenic	X	38271235	38271235	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224864,UniProtKB:P00480#VAR_004939
single nucleotide variant	NM_000531.6(OTC):c.961T>C (p.Ser321Pro)	OTC	Likely pathogenic	X	38271208	38271208	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000531.6(OTC):c.959G>T (p.Arg320Leu)	OTC	Likely pathogenic	X	38271206	38271206	G	T	criteria provided, single submitter	ClinGen:CA224858,UniProtKB:P00480#VAR_004938
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.943G>T (p.Val315Phe)	OTC	Likely pathogenic	X	38271190	38271190	G	T	criteria provided, single submitter	ClinGen:CA224846
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