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.140A>T (p.Asn47Ile)	OTC	Pathogenic	X	38226606	38226606	A	T	criteria provided, single submitter	ClinGen:CA224465,UniProtKB:P00480#VAR_004852
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.131C>T (p.Thr44Ile)	OTC	Pathogenic	X	38226597	38226597	C	T	criteria provided, single submitter	ClinGen:CA224459,UniProtKB:P00480#VAR_004848
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.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.118C>T (p.Arg40Cys)	OTC	Pathogenic/Likely pathogenic	X	38226584	38226584	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA090910,UniProtKB:P00480#VAR_004845,OMIM:300461.0028
Duplication	NM_000531.6(OTC):c.77+2dup	OTC	Likely pathogenic	X	38212027	38212028	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000531.6(OTC):c.77+1G>A	OTC	Pathogenic	X	38212027	38212027	G	A	criteria provided, single submitter	ClinGen:CA224773
single nucleotide variant	NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	OTC	Pathogenic/Likely pathogenic	X	38212026	38212026	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255647,UniProtKB:P00480#VAR_004843,OMIM:300461.0008
single nucleotide variant	NM_000531.6(OTC):c.67C>T (p.Arg23Ter)	OTC	Pathogenic	X	38212016	38212016	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224742