C0268542[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368256	NM_000531.6(OTC):c.-48G>T	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency +1 more	GBenign/Likely benign
Select item 368257	NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	OTC (R26W)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GUncertain significance
Select item 10994	NM_000531.6(OTC):c.137A>G (p.Lys46Arg)	OTC (K46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 368258	NM_000531.6(OTC):c.216+9C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 912659	NM_000531.6(OTC):c.216+10A>G	OTC	Single nucleotide variant (intron variant)	OTC-related condition +1 more	GConflicting classifications of pathogenicity
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)	Ornithine carbamoyltransferase deficiency +2 more	GBenign
Select item 705818	NM_000531.6(OTC):c.582C>T (p.Ile194=)	OTC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 368259	NM_000531.6(OTC):c.621C>T (p.Ser207=)	OTC	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 93223	NM_000531.6(OTC):c.718-14T>C	OTC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 368260	NM_000531.6(OTC):c.751T>C (p.Leu251=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +2 more	GBenign/Likely benign
Select item 129867	NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	OTC (Q270R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +3 more	GBenign/Likely benign
Select item 913762	NM_000531.6(OTC):c.814G>A (p.Glu272Lys)	OTC (E272K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	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 803979	NM_000531.6(OTC):c.974C>T (p.Pro325Leu)	OTC (P325L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 368261	NM_000531.6(OTC):c.*105C>T	OTC	Single nucleotide variant (3 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 368262	NM_000531.6(OTC):c.*106G>A	OTC	Single nucleotide variant (3 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GBenign
Select item 914162	NM_000531.6(OTC):c.*175T>C	OTC	Single nucleotide variant (3 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 368263	NM_000531.6(OTC):c.*276A>G	OTC	Single nucleotide variant (3 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance