ClinVar for OMIM (Select 311250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065075	NM_000531.6(OTC):c.1065A>T (p.Ter355Cys)	OTC	Single nucleotide variant (stop lost)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3062236	NM_000531.6(OTC):c.502C>T (p.His168Tyr)	OTC (H168Y)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3020595	NM_000531.6(OTC):c.718-11A>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3013580	NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)	OTC (T343A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2999292	NM_000531.6(OTC):c.717+20A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2996973	NM_000531.6(OTC):c.370C>T (p.Leu124Phe)	OTC (L124F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2995242	NM_000531.6(OTC):c.1008T>A (p.Ala336=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2987248	NM_000531.6(OTC):c.867+18T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2986707	NM_000531.6(OTC):c.717+13C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2984559	NM_000531.6(OTC):c.868-8C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2979143	NM_000531.6(OTC):c.92T>C (p.Leu31Pro)	OTC (L31P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2975429	NM_000531.6(OTC):c.804G>C (p.Met268Ile)	OTC (M268I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2972474	NM_000531.6(OTC):c.540+16del	OTC	Deletion (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2969561	NM_000531.6(OTC):c.664-7C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GBenign
Select item 2966815	NM_000531.6(OTC):c.867+19C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2964117	NM_000531.6(OTC):c.77+11G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2964065	NM_000531.6(OTC):c.868-10A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2961842	NM_000531.6(OTC):c.540+17G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2960376	NM_000531.6(OTC):c.299-16T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2918023	NM_000531.6(OTC):c.216+19T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2915821	NM_000531.6(OTC):c.217-15G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2915056	NM_000531.6(OTC):c.664-13C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2912725	NM_000531.6(OTC):c.299-9_299-8dup	OTC	Duplication (intron variant)	Ornithine carbamoyltransferase deficiency	GBenign
Select item 2909645	NM_000531.6(OTC):c.718-18C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2904592	NM_000531.6(OTC):c.369T>A (p.Ser123Arg)	OTC (S123R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2899957	NM_000531.6(OTC):c.540+17G>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2893985	NM_000531.6(OTC):c.945C>G (p.Val315=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2893422	NM_000531.6(OTC):c.1005+20T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GBenign
Select item 2886127	NM_000531.6(OTC):c.717+15T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2884370	NM_000531.6(OTC):c.717+8C>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GBenign
Select item 2881700	NM_000531.6(OTC):c.298+18T>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2878797	NM_000531.6(OTC):c.78-12C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2866898	NM_000531.6(OTC):c.867+9T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2866629	NM_000531.6(OTC):c.717+20A>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2866580	NM_000531.6(OTC):c.867+1126A>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2866528	NM_000531.6(OTC):c.829C>A (p.Arg277=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2855607	NM_000531.6(OTC):c.323C>G (p.Pro108Arg)	OTC (P108R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2854261	NM_000531.6(OTC):c.681T>C (p.Ala227=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2843473	NM_000531.6(OTC):c.546C>T (p.His182=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2843185	NM_000531.6(OTC):c.216+15C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2836816	NM_000531.6(OTC):c.415T>C (p.Leu139=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2835027	NM_000531.6(OTC):c.480C>G (p.Ile160Met)	OTC (I160M)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2829354	NM_000531.6(OTC):c.299-18del	OTC	Deletion (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2822777	NM_000531.6(OTC):c.387-19T>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2815894	NM_000531.6(OTC):c.299-11T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2805646	NM_000531.6(OTC):c.570C>T (p.Thr190=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2794326	NM_000531.6(OTC):c.663+13T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2781000	NM_000531.6(OTC):c.943G>A (p.Val315Ile)	OTC (V315I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2772662	NM_000531.6(OTC):c.386+9del	OTC	Deletion (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2767502	NM_000531.6(OTC):c.1002C>A (p.Ile334=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2766658	NM_000531.6(OTC):c.298+8C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2765595	NM_000531.6(OTC):c.306A>T (p.Ala102=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2763082	NM_000531.6(OTC):c.78-5T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2761121	NM_000531.6(OTC):c.736C>T (p.Leu246=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2761120	NM_000531.6(OTC):c.641A>G (p.His214Arg)	OTC (H214R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2758922	NM_000531.6(OTC):c.299-7A>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2756958	NM_000531.6(OTC):c.387-18T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2756534	NM_000531.6(OTC):c.77+20T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2756484	NM_000531.6(OTC):c.30C>T (p.Asn10=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2754398	NM_000531.6(OTC):c.435A>G (p.Gln145=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2750731	NM_000531.6(OTC):c.450C>T (p.Thr150=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2744193	NM_000531.6(OTC):c.195T>C (p.Phe65=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2743496	NM_000531.6(OTC):c.132T>C (p.Thr44=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2737806	NM_000531.6(OTC):c.1006-13G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2737202	NM_000531.6(OTC):c.119G>T (p.Arg40Leu)	OTC (R40L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2734298	NM_000531.6(OTC):c.663+9A>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2731341	NM_000531.6(OTC):c.868-13C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2727469	NM_000531.6(OTC):c.6G>A (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2725095	NM_000531.6(OTC):c.78-13T>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2724044	NM_000531.6(OTC):c.718-17G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2722841	NM_000531.6(OTC):c.216+15C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2721222	NM_000531.6(OTC):c.146C>T (p.Thr49Ile)	OTC (T49I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2715830	NM_000531.6(OTC):c.915C>A (p.Pro305=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2715666	NM_000531.6(OTC):c.868-13C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2711169	NM_000531.6(OTC):c.537C>G (p.Leu179=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2705959	NM_000531.6(OTC):c.298+14C>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2701879	NM_000531.6(OTC):c.999A>C (p.Thr333=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2699850	NM_000531.6(OTC):c.597T>C (p.Asn199=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2692816	NM_000531.6(OTC):c.951T>C (p.Tyr317=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
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 2689641	NM_000531.6(OTC):c.614T>G (p.Met205Arg)	OTC (M205R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	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 2683922	NM_000531.6(OTC):c.1031A>T (p.Asp344Val)	OTC (D344V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2677428	NM_000531.6(OTC):c.1006-2A>G	OTC	Single nucleotide variant (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2677426	NM_000531.6(OTC):c.298+2T>C	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2677425	NM_000531.6(OTC):c.563G>C (p.Gly188Ala)	OTC (G188A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2671947	NM_000531.6(OTC):c.477T>G (p.Ile159Met)	OTC (I159M)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2664686	NM_000531.6(OTC):c.717G>T (p.Glu239Asp)	OTC (E239D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2630328	NM_000531.6(OTC):c.642C>A (p.His214Gln)	OTC (H214Q)	Single nucleotide variant (missense variant)	OTC-related condition +1 more	GUncertain significance
Select item 2627424	NM_000531.6(OTC):c.908G>T (p.Cys303Phe)	OTC (C303F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2627014	NM_000531.6(OTC):c.618G>T (p.Met206Ile)	OTC (M206I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2584533	NM_000531.6(OTC):c.437C>A (p.Ser146Ter)	OTC (S146*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2584418	NM_000531.6(OTC):c.607T>C (p.Ser203Pro)	OTC (S203P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2582607	NM_000531.6(OTC):c.78-2A>G	OTC	Single nucleotide variant (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2582389	NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)	OTC (D175Y)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2573437	NM_000531.6(OTC):c.853C>T (p.Gln285Ter)	OTC (Q285*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2501754	NM_000531.6(OTC):c.833_864delinsCC (p.Leu278_Met288delinsPro)	OTC	Indel (inframe_indel)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2499129	NM_000531.6(OTC):c.672G>A (p.Glu224=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 2434522	NM_000531.6(OTC):c.1040C>G (p.Pro347Arg)	OTC (P347R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2434521	NM_000531.6(OTC):c.52C>A (p.His18Asn)	OTC (H18N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance

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