C0268542[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 93220	NM_000531.6(OTC):c.299-8T>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +2 more	GBenign
Select item 735679	NM_000531.6(OTC):c.372C>T (p.Leu124=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 256370	NM_000531.6(OTC):c.429T>C (p.Tyr143=)	OTC	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 728308	NM_000531.6(OTC):c.534G>A (p.Thr178=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 449382	NM_000531.6(OTC):c.540+265G>A	OTC	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1169772	NM_000531.6(OTC):c.582C>A (p.Ile194=)	OTC	Single nucleotide variant (synonymous variant)	OTC-related condition +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 97337	NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	OTC (E273del)	Microsatellite (inframe_deletion)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic