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.216+1G>A	OTC	Pathogenic	X	38226683	38226683	G	A	criteria provided, single submitter	ClinGen:CA224502
Deletion	NM_000531.6(OTC):c.216+1del	OTC	Pathogenic	X	38226682	38226682	AG	A	criteria provided, single submitter	ClinGen:CA10603589
single nucleotide variant	NM_000531.6(OTC):c.205C>T (p.Gln69Ter)	OTC	Pathogenic	X	38226671	38226671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224500
single nucleotide variant	NM_000531.6(OTC):c.174G>A (p.Trp58Ter)	OTC	Pathogenic	X	38226640	38226640	G	A	criteria provided, single submitter	ClinGen:CA224490
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
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.154G>T (p.Glu52Ter)	OTC	Pathogenic	X	38226620	38226620	G	T	criteria provided, single submitter	ClinGen:CA224476
single nucleotide variant	NM_000531.6(OTC):c.154G>A (p.Glu52Lys)	OTC	Pathogenic	X	38226620	38226620	G	A	criteria provided, single submitter	ClinGen:CA224474
Insertion	NM_000531.6(OTC):c.140_141insG (p.Asn47fs)	OTC	Likely pathogenic	X	38226606	38226607	A	AG	criteria provided, single submitter	ClinGen:CA224466