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
Deletion	NM_000531.6(OTC):c.29_32del (p.Asn10fs)	OTC	Pathogenic	X	38211976	38211979	TAAAC	T	criteria provided, single submitter	ClinGen:CA224540
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.298+1G>A	OTC	Pathogenic	X	38229131	38229131	G	A	criteria provided, single submitter	ClinGen:CA224543
single nucleotide variant	NM_000531.6(OTC):c.298+1G>T	OTC	Pathogenic	X	38229131	38229131	G	T	criteria provided, single submitter	ClinGen:CA224544
single nucleotide variant	NM_000531.6(OTC):c.2T>C (p.Met1Thr)	OTC	Pathogenic	X	38211951	38211951	T	C	criteria provided, single submitter	ClinGen:CA224547
single nucleotide variant	NM_000531.6(OTC):c.350A>G (p.His117Arg)	OTC	Pathogenic	X	38240646	38240646	A	G	criteria provided, single submitter	ClinGen:CA224559,UniProtKB:P00480#VAR_004873
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.386+1G>A	OTC	Pathogenic	X	38240683	38240683	G	A	criteria provided, single submitter	ClinGen:CA224565
single nucleotide variant	NM_000531.6(OTC):c.3G>A (p.Met1Ile)	OTC	Pathogenic	X	38211952	38211952	G	A	criteria provided, single submitter	ClinGen:CA224584
single nucleotide variant	NM_000531.6(OTC):c.407A>T (p.Asp136Val)	OTC	Pathogenic	X	38260548	38260548	A	T	criteria provided, single submitter	ClinGen:CA224589