"Ambry Genetics"[submitter] AND "OTC"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10993	NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	OTC (R26Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 972786	NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	OTC (Q29E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1466747	NM_000531.6(OTC):c.89C>A (p.Pro30Gln)	OTC (P30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 10994	NM_000531.6(OTC):c.137A>G (p.Lys46Arg)	OTC (K46R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1780328	NM_000531.6(OTC):c.179C>G (p.Ser60Ter)	OTC (S60*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1786041	NM_000531.6(OTC):c.210A>G (p.Lys70=)	OTC	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589416	NM_000531.6(OTC):c.270T>C (p.Ser90=)	OTC	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589038	NM_000531.6(OTC):c.272C>T (p.Thr91Ile)	OTC (T91I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 97162	NM_000531.6(OTC):c.298+5G>C	OTC	Single nucleotide variant (intron variant)	OTC-related condition +3 more	GBenign/Likely benign
Select item 93220	NM_000531.6(OTC):c.299-8T>A	OTC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 256370	NM_000531.6(OTC):c.429T>C (p.Tyr143=)	OTC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 368259	NM_000531.6(OTC):c.621C>T (p.Ser207=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GBenign/Likely benign
Select item 1754225	NM_000531.6(OTC):c.656C>A (p.Thr219Asn)	OTC (T219N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GUncertain significance
Select item 2620029	NM_000531.6(OTC):c.682A>T (p.Ser228Cys)	OTC (S228C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1106300	NM_000531.6(OTC):c.717+5G>A	OTC	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 368260	NM_000531.6(OTC):c.751T>C (p.Leu251=)	OTC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129867	NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	OTC (Q270R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 588323	NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	OTC (E314A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 521440	NM_000531.6(OTC):c.953CTC[1] (p.Pro319del)	OTC (P319del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 97371	NM_000531.6(OTC):c.958C>T (p.Arg320Ter)	OTC (R320*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic

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Items: 20