"Color Diagnostics, LLC DBA Color Health"[submitter] AND "OTC"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 852531	NM_000531.6(OTC):c.83G>A (p.Gly28Glu)	OTC (G28E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 11013	NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	OTC (R40C)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 10994	NM_000531.6(OTC):c.137A>G (p.Lys46Arg)	OTC (K46R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +3 more	GBenign
Select item 97162	NM_000531.6(OTC):c.298+5G>C	OTC	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 93220	NM_000531.6(OTC):c.299-8T>A	OTC	Single nucleotide variant (intron variant)	not specified +3 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)	not provided +3 more	GBenign
Select item 1581907	NM_000531.6(OTC):c.449C>A (p.Thr150Asn)	OTC (T150N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
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)	Abnormal circulating ornithine concentration +4 more	GPathogenic
Select item 1169772	NM_000531.6(OTC):c.582C>A (p.Ile194=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GBenign/Likely benign
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 1106300	NM_000531.6(OTC):c.717+5G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
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 +3 more	GBenign/Likely benign
Select item 3071802	NM_000531.6(OTC):c.773A>G (p.Asn258Ser)	OTC (N258S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
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 97337	NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	OTC (E273del)	Microsatellite (inframe_deletion)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic
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

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Items: 20