"Genome-Nilou Lab"[submitter] AND "OTC"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368257	NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	OTC (R26W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 10993	NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	OTC (R26Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 654598	NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	OTC (G39D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 11013	NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	OTC (R40C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11014	NM_000531.6(OTC):c.119G>A (p.Arg40His)	OTC (R40H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 97112	NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	OTC (N47T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 97133	NM_000531.6(OTC):c.205C>T (p.Gln69Ter)	OTC (Q69*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 97152	NM_000531.6(OTC):c.275G>A (p.Arg92Gln)	OTC (R92Q)	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 97175	NM_000531.6(OTC):c.374C>T (p.Thr125Met)	OTC (T125M)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +3 more	GUncertain significance
Select item 161330	NM_000531.6(OTC):c.385C>T (p.Arg129Cys)	OTC (R129C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 11010	NM_000531.6(OTC):c.386G>A (p.Arg129His)	OTC (R129H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 10987	NM_000531.6(OTC):c.422G>A (p.Arg141Gln)	OTC (R141Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 97216	NM_000531.6(OTC):c.482A>G (p.Asn161Ser)	OTC (N161S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 426470	NM_000531.6(OTC):c.520G>A (p.Ala174Thr)	OTC (A174T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 97237	NM_000531.6(OTC):c.533C>T (p.Thr178Met)	OTC (T178M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 97255	NM_000531.6(OTC):c.583G>A (p.Gly195Arg)	OTC (G195R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 97265	NM_000531.6(OTC):c.596A>G (p.Asn199Ser)	OTC (N199S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
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 97274	NM_000531.6(OTC):c.622G>A (p.Ala208Thr)	OTC (A208T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +2 more	GPathogenic
Select item 97275	NM_000531.6(OTC):c.626C>T (p.Ala209Val)	OTC (A209V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 97284	NM_000531.6(OTC):c.663+1G>T	OTC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 11000	NM_000531.6(OTC):c.674C>T (p.Pro225Leu)	OTC (P225L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 129867	NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	OTC (Q270R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 10999	NM_000531.6(OTC):c.829C>T (p.Arg277Trp)	OTC (R277W)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 97339	NM_000531.6(OTC):c.830G>A (p.Arg277Gln)	OTC (R277Q)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 1218722	NM_000531.6(OTC):c.847G>C (p.Gly283Arg)	OTC (G283R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913763	NM_000531.6(OTC):c.896C>T (p.Thr299Ile)	OTC (T299I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 203867	NM_000531.6(OTC):c.919A>G (p.Lys307Glu)	OTC (K307E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 588323	NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	OTC (E314A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 97366	NM_000531.6(OTC):c.944T>A (p.Val315Asp)	OTC (V315D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 97371	NM_000531.6(OTC):c.958C>T (p.Arg320Ter)	OTC (R320*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 618259	NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)	OTC (S340F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 33