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.418G>C (p.Ala140Pro)	OTC	Likely pathogenic	X	38260559	38260559	G	C	criteria provided, single submitter	ClinGen:CA224595,UniProtKB:P00480#VAR_010605
single nucleotide variant	NM_000531.6(OTC):c.422G>C (p.Arg141Pro)	OTC	Likely pathogenic	X	38260563	38260563	G	C	criteria provided, single submitter	ClinGen:CA224601,UniProtKB:P00480#VAR_004878
single nucleotide variant	NM_000531.6(OTC):c.443T>C (p.Leu148Ser)	OTC	Likely pathogenic	X	38260584	38260584	T	C	criteria provided, single submitter	ClinGen:CA224608
Deletion	NM_000531.6(OTC):c.451del (p.Leu151fs)	OTC	Pathogenic	X	38260590	38260590	AC	A	criteria provided, single submitter	ClinGen:CA224614
single nucleotide variant	NM_000531.6(OTC):c.482A>G (p.Asn161Ser)	OTC	Pathogenic	X	38260623	38260623	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224635,UniProtKB:P00480#VAR_004882
single nucleotide variant	NM_000531.6(OTC):c.484G>C (p.Gly162Arg)	OTC	Pathogenic	X	38260625	38260625	G	C	criteria provided, single submitter	ClinGen:CA224637,UniProtKB:P00480#VAR_004883
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
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.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.533C>T (p.Thr178Met)	OTC	Pathogenic	X	38260674	38260674	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224668,UniProtKB:P00480#VAR_004890