C0268542[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434521	NM_000531.6(OTC):c.52C>A (p.His18Asn)	OTC (H18N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1720979	NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)	OTC (L42H)	Indel (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2689642	NM_000531.6(OTC):c.145A>T (p.Thr49Ser)	OTC (T49S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97116	NM_000531.6(OTC):c.145A>C (p.Thr49Pro)	OTC (T49P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 959988	NM_000531.6(OTC):c.286T>C (p.Ser96Pro)	OTC (S96P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
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 97206	NM_000531.6(OTC):c.452T>G (p.Leu151Arg)	OTC (L151R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 452381	NM_000531.6(OTC):c.494A>G (p.Asp165Gly)	OTC (D165G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2434517	NM_000531.6(OTC):c.512A>G (p.Gln171Arg)	OTC (Q171R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	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 1458773	NM_000531.6(OTC):c.540+1G>A	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2434518	NM_000531.6(OTC):c.540+5G>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2689641	NM_000531.6(OTC):c.614T>G (p.Met205Arg)	OTC (M205R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 426468	NM_000531.6(OTC):c.626C>G (p.Ala209Gly)	OTC (A209G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GUncertain significance
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 2689640	NM_000531.6(OTC):c.774T>G (p.Asn258Lys)	OTC (N258K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97333	NM_000531.6(OTC):c.803T>C (p.Met268Thr)	OTC (M268T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic
Select item 571311	NM_000531.6(OTC):c.867+1126A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 858012	NM_000531.6(OTC):c.926AAG[1] (p.Glu310del)	OTC (E310del)	Microsatellite (inframe_deletion)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97363	NM_000531.6(OTC):c.931G>A (p.Val311Met)	OTC (V311M)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97100	NM_000531.6(OTC):c.1033T>C (p.Tyr345His)	OTC (Y345H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 2434522	NM_000531.6(OTC):c.1040C>G (p.Pro347Arg)	OTC (P347R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance

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Items: 22