C0268542[trait identifier] AND "Molecular Genetics laboratory, Necker - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870325	NM_000531.6(OTC):c.77+5G>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 915469	NM_000531.6(OTC):c.116G>C (p.Gly39Ala)	OTC (G39A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 933230	NM_000531.6(OTC):c.128T>C (p.Leu43Pro)	OTC (L43P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870324	NM_000531.6(OTC):c.214G>A (p.Glu72Lys)	OTC (E72K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 915470	NM_000531.6(OTC):c.217-2A>G	OTC	Single nucleotide variant (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870610	NM_000531.6(OTC):c.298+1del	OTC	Deletion (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870323	NM_000531.6(OTC):c.298G>T (p.Gly100Cys)	OTC (G100C)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 451770	NM_000531.6(OTC):c.298+2T>G	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 870327	NM_000531.6(OTC):c.327T>A (p.Cys109Ter)	OTC (C109*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870322	NM_000531.6(OTC):c.473C>T (p.Pro158Leu)	OTC (P158L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870317	NM_000531.6(OTC):c.488T>G (p.Leu163Arg)	OTC (L163R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870328	NM_000531.6(OTC):c.568dup (p.Thr190fs)	OTC (T190fs)	Duplication (frameshift variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870316	NM_000531.6(OTC):c.584G>C (p.Gly195Ala)	OTC (G195A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 496026	NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	OTC (S203F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 870315	NM_000531.6(OTC):c.635G>T (p.Gly212Val)	OTC (G212V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870314	NM_000531.6(OTC):c.652G>C (p.Ala218Pro)	OTC (A218P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870329	NM_000531.6(OTC):c.740C>G (p.Thr247Arg)	OTC (T247R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870326	NM_000531.6(OTC):c.766G>T (p.Gly256Ter)	OTC (G256*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870330	NM_000531.6(OTC):c.944T>C (p.Val315Ala)	OTC (V315A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870331	NM_000531.6(OTC):c.946T>G (p.Phe316Val)	OTC (F316V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 870332	NM_000531.6(OTC):c.1009G>T (p.Val337Phe)	OTC (V337F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 870333	NM_000531.6(OTC):c.1015G>A (p.Val339Met)	OTC (V339M)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 915468	NM_000531.6(OTC):c.1052del (p.Lys351fs)	OTC (K351fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 933140	NM_000531.5:c.(386+1_387-1)_(1005+1_1006-1)del	OTC	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic

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Items: 24