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.959G>T (p.Arg320Leu)	OTC	Likely pathogenic	X	38271206	38271206	G	T	criteria provided, single submitter	ClinGen:CA224858,UniProtKB:P00480#VAR_004938
single nucleotide variant	NM_000531.6(OTC):c.988A>G (p.Arg330Gly)	OTC	Pathogenic/Likely pathogenic	X	38271235	38271235	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224864,UniProtKB:P00480#VAR_004939
single nucleotide variant	NM_000531.6(OTC):c.995G>A (p.Trp332Ter)	OTC	Pathogenic	X	38271242	38271242	G	A	criteria provided, single submitter	ClinGen:CA224869
Duplication	NM_000531.6(OTC):c.217-2dup	OTC	Pathogenic	X	38229046	38229047	T	TA	criteria provided, single submitter	ClinGen:CA312802
Deletion	NM_000531.6(OTC):c.562_563del (p.Gly188fs)	OTC	Pathogenic	X	38262892	38262893	AGG	A	criteria provided, single submitter	ClinGen:CA312803
single nucleotide variant	NM_000531.6(OTC):c.615G>C (p.Met205Ile)	OTC	Pathogenic	X	38262945	38262945	G	C	criteria provided, single submitter	ClinGen:CA312797
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.634G>T (p.Gly212Ter)	OTC	Pathogenic	X	38262964	38262964	G	T	criteria provided, single submitter	ClinGen:CA16621369
single nucleotide variant	NM_000531.6(OTC):c.868-2A>T	OTC	Likely pathogenic	X	38271113	38271113	A	T	criteria provided, single submitter	ClinGen:CA16621370
single nucleotide variant	NM_000531.6(OTC):c.365A>G (p.Glu122Gly)	OTC	Likely pathogenic	X	38240661	38240661	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412718508