"Eurofins Ntd Llc (ga)"[submitter] AND "OTC"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 287258	NM_000531.6(OTC):c.122A>T (p.Asp41Val)	OTC (D41V)	Single nucleotide variant (missense variant)	not provided	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 97133	NM_000531.6(OTC):c.205C>T (p.Gln69Ter)	OTC (Q69*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 496896	NM_000531.6(OTC):c.228A>C (p.Leu76Phe)	OTC (L76F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93219	NM_000531.6(OTC):c.238A>G (p.Lys80Glu)	OTC (K80E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
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 197154	NM_000531.6(OTC):c.299-8del	OTC	Deletion (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	GBenign
Select item 93220	NM_000531.6(OTC):c.299-8T>A	OTC	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 286877	NM_000531.6(OTC):c.382G>C (p.Ala128Pro)	OTC (A128P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597358	NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer)	OTC	Duplication (nonsense)	not provided	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 594237	NM_000531.6(OTC):c.470T>C (p.Ile157Thr)	OTC (I157T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93221	NM_000531.6(OTC):c.540+2T>C	OTC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 93222	NM_000531.6(OTC):c.572T>G (p.Leu191Arg)	OTC (L191R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 97285	NM_000531.6(OTC):c.663+2T>C	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 93223	NM_000531.6(OTC):c.718-14T>C	OTC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 167409	NM_000531.6(OTC):c.725C>A (p.Thr242Asn)	OTC (T242N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93224	NM_000531.6(OTC):c.808C>G (p.Gln270Glu)	OTC (Q270E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GUncertain significance
Select item 93225	NM_000531.6(OTC):c.868-3T>C	OTC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 199032	NM_000531.6(OTC):c.870T>C (p.Thr290=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity

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Items: 22