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.122A>G (p.Asp41Gly)	OTC	Likely pathogenic	X	38226588	38226588	A	G	criteria provided, single submitter	ClinGen:CA224455
Insertion	NM_000531.6(OTC):c.140_141insG (p.Asn47fs)	OTC	Likely pathogenic	X	38226606	38226607	A	AG	criteria provided, single submitter	ClinGen:CA224466
single nucleotide variant	NM_000531.6(OTC):c.156A>T (p.Glu52Asp)	OTC	Likely pathogenic	X	38226622	38226622	A	T	criteria provided, single submitter	ClinGen:CA224480
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
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.292G>A (p.Glu98Lys)	OTC	Likely pathogenic	X	38229124	38229124	G	A	criteria provided, single submitter	ClinGen:CA224541
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.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