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

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.205C>T (p.Gln69Ter)	OTC	Pathogenic	X	38226671	38226671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224500
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.216+1G>A	OTC	Pathogenic	X	38226683	38226683	G	A	criteria provided, single submitter	ClinGen:CA224502
Duplication	NM_000531.6(OTC):c.217-2dup	OTC	Pathogenic	X	38229046	38229047	T	TA	criteria provided, single submitter	ClinGen:CA312802
single nucleotide variant	NM_000531.6(OTC):c.228A>C (p.Leu76Phe)	OTC	Likely pathogenic	X	38229060	38229060	A	C	criteria provided, single submitter	ClinGen:CA412716809
single nucleotide variant	NM_000531.6(OTC):c.231G>T (p.Leu77Phe)	OTC	Pathogenic	X	38229063	38229063	G	T	criteria provided, single submitter	ClinGen:CA224507
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.274C>T (p.Arg92Ter)	OTC	Pathogenic	X	38229106	38229106	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224530
single nucleotide variant	NM_000531.6(OTC):c.275G>A (p.Arg92Gln)	OTC	Pathogenic	X	38229107	38229107	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA285805,UniProtKB:P00480#VAR_004865