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.119G>A (p.Arg40His)	OTC	Pathogenic/Likely pathogenic	X	38226585	38226585	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224454,UniProtKB:P00480#VAR_004846,OMIM:300461.0029
single nucleotide variant	NM_000531.6(OTC):c.238A>G (p.Lys80Glu)	OTC	Pathogenic	X	38229070	38229070	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221089
single nucleotide variant	NM_000531.6(OTC):c.540+2T>C	OTC	Pathogenic	X	38260683	38260683	T	C	criteria provided, single submitter	ClinGen:CA221091
single nucleotide variant	NM_000531.6(OTC):c.1033T>C (p.Tyr345His)	OTC	Pathogenic	X	38280303	38280303	T	C	criteria provided, single submitter	ClinGen:CA224442
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
single nucleotide variant	NM_000531.6(OTC):c.131C>T (p.Thr44Ile)	OTC	Pathogenic	X	38226597	38226597	C	T	criteria provided, single submitter	ClinGen:CA224459,UniProtKB:P00480#VAR_004848
Deletion	NM_000531.6(OTC):c.140del (p.Asn47fs)	OTC	Pathogenic	X	38226601	38226601	TA	T	criteria provided, single submitter	ClinGen:CA224462
single nucleotide variant	NM_000531.6(OTC):c.140A>T (p.Asn47Ile)	OTC	Pathogenic	X	38226606	38226606	A	T	criteria provided, single submitter	ClinGen:CA224465,UniProtKB:P00480#VAR_004852
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.154G>A (p.Glu52Lys)	OTC	Pathogenic	X	38226620	38226620	G	A	criteria provided, single submitter	ClinGen:CA224474