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.663+2T>C	OTC	Pathogenic	X	38262995	38262995	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224732
single nucleotide variant	NM_000531.6(OTC):c.663+1G>T	OTC	Pathogenic	X	38262994	38262994	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224731
single nucleotide variant	NM_000531.6(OTC):c.659C>T (p.Pro220Leu)	OTC	Likely pathogenic	X	38262989	38262989	C	T	criteria provided, single submitter	ClinGen:CA224728
single nucleotide variant	NM_000531.6(OTC):c.626C>T (p.Ala209Val)	OTC	Pathogenic	X	38262956	38262956	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224717,UniProtKB:P00480#VAR_004909
single nucleotide variant	NM_000531.6(OTC):c.622G>A (p.Ala208Thr)	OTC	Pathogenic	X	38262952	38262952	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224716,UniProtKB:P00480#VAR_004908
single nucleotide variant	NM_000531.6(OTC):c.621C>A (p.Ser207Arg)	OTC	Likely pathogenic	X	38262951	38262951	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224715,UniProtKB:P00480#VAR_004907
single nucleotide variant	NM_000531.6(OTC):c.613A>G (p.Met205Val)	OTC	Likely pathogenic	X	38262943	38262943	A	G	criteria provided, single submitter	ClinGen:CA224709
single nucleotide variant	NM_000531.6(OTC):c.604C>T (p.His202Tyr)	OTC	Pathogenic	X	38262934	38262934	C	T	criteria provided, single submitter	ClinGen:CA224705,UniProtKB:P00480#VAR_004904
single nucleotide variant	NM_000531.6(OTC):c.596A>G (p.Asn199Ser)	OTC	Pathogenic/Likely pathogenic	X	38262926	38262926	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224702
single nucleotide variant	NM_000531.6(OTC):c.589G>A (p.Gly197Arg)	OTC	Pathogenic/Likely pathogenic	X	38262919	38262919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224695,UniProtKB:P00480#VAR_009235