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.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.577T>C (p.Trp193Arg)	OTC	Likely pathogenic	X	38262907	38262907	T	C	criteria provided, single submitter	ClinGen:CA224684
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.443T>C (p.Leu148Ser)	OTC	Likely pathogenic	X	38260584	38260584	T	C	criteria provided, single submitter	ClinGen:CA224608
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.418G>C (p.Ala140Pro)	OTC	Likely pathogenic	X	38260559	38260559	G	C	criteria provided, single submitter	ClinGen:CA224595,UniProtKB:P00480#VAR_010605
Insertion	NM_000531.6(OTC):c.364_365insTT (p.Glu122fs)	OTC	Likely pathogenic	X	38240660	38240661	G	GTT	criteria provided, single submitter	ClinGen:CA224562
single nucleotide variant	NM_000531.6(OTC):c.292G>A (p.Glu98Lys)	OTC	Likely pathogenic	X	38229124	38229124	G	A	criteria provided, single submitter	ClinGen:CA224541
single nucleotide variant	NM_000531.6(OTC):c.167T>C (p.Met56Thr)	OTC	Likely pathogenic	X	38226633	38226633	T	C	criteria provided, single submitter	ClinGen:CA224487,UniProtKB:P00480#VAR_004855
single nucleotide variant	NM_000531.6(OTC):c.158T>C (p.Ile53Thr)	OTC	Likely pathogenic	X	38226624	38226624	T	C	criteria provided, single submitter	ClinGen:CA224482