ClinVar for MedGen (Select 75692) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076057	NM_000531.6(OTC):c.865_866del (p.Lys289fs)	OTC (K289fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3075103	NM_000531.6(OTC):c.1005+5G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3075057	NM_000531.6(OTC):c.848G>T (p.Gly283Val)	OTC (G283V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3074940	NM_000531.6(OTC):c.1002C>T (p.Ile334=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074790	NM_000531.6(OTC):c.-5A>C	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3074769	NM_000531.6(OTC):c.617T>C (p.Met206Thr)	OTC (M206T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3074723	NM_000531.6(OTC):c.217-15G>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074720	NM_000531.6(OTC):c.78-10C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074573	NM_000531.6(OTC):c.971T>C (p.Phe324Ser)	OTC (F324S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3074287	NM_000531.6(OTC):c.855G>C (p.Gln285His)	OTC (Q285H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3073730	NM_000531.6(OTC):c.1004T>C (p.Met335Thr)	OTC (M335T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3073515	NM_000531.6(OTC):c.216G>A (p.Glu72=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3073064	NM_000531.6(OTC):c.1009G>A (p.Val337Ile)	OTC (V337I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3072806	NM_000531.6(OTC):c.1043A>G (p.Gln348Arg)	OTC (Q348R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3072768	NM_000531.6(OTC):c.457A>G (p.Lys153Glu)	OTC (K153E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3072519	NM_000531.6(OTC):c.78G>T (p.Arg26=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3071926	NM_000531.6(OTC):c.285G>T (p.Leu95Phe)	OTC (L95F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3071884	NM_000531.6(OTC):c.580A>G (p.Ile194Val)	OTC (I194V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
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 3071638	NM_000531.6(OTC):c.475A>G (p.Ile159Val)	OTC (I159V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3071488	NM_000531.6(OTC):c.689C>T (p.Thr230Ile)	OTC (T230I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3071402	NM_000531.6(OTC):c.756A>C (p.Glu252Asp)	OTC (E252D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3071198	NM_000531.5(OTC):c.-143T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3071154	NM_000531.6(OTC):c.217-14T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3070924	NM_000531.6(OTC):c.362A>G (p.Asn121Ser)	OTC (N121S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3070914	NM_000531.6(OTC):c.355G>T (p.Gly119Cys)	OTC (G119C)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3070749	NM_000531.6(OTC):c.718-7A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3070459	NM_000531.6(OTC):c.404C>T (p.Ala135Val)	OTC (A135V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3070037	NM_000531.6(OTC):c.800G>A (p.Ser267Asn)	OTC (S267N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3069921	NM_000531.6(OTC):c.497T>C (p.Leu166Ser)	OTC (L166S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3069748	NM_000531.6(OTC):c.955C>T (p.Pro319Ser)	OTC (P319S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3069293	NM_000531.6(OTC):c.1030G>C (p.Asp344His)	OTC (D344H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
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	GConflicting classifications of pathogenicity
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

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