OTC[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 680700	NM_000531.5(OTC):c.-661C>T	OTC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680702	NM_000531.5(OTC):c.-646G>A	OTC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283242	NC_000023.11:g.38352178TTCT[1]	OTC	Microsatellite	not provided	GBenign
Select item 516560	NC_000023.11:g.38352256A>G	OTC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3051591	NC_000023.11:g.38352260T>C	OTC	Single nucleotide variant (intron variant)	OTC-related disorder	GUncertain significance
Select item 516756	NM_000531.6(OTC):c.-366A>G	OTC	Single nucleotide variant	Ornithine carbamoyltransferase deficiency +2 more	GBenign/Likely benign
Select item 380178	NM_000531.6(OTC):c.-365G>A	OTC	Single nucleotide variant	not specified	GBenign
Select item 516401	NM_000531.6(OTC):c.-359G>A	OTC	Single nucleotide variant	not specified	GBenign
Select item 1190289	NC_000023.11:g.38352403G>A	OTC	Single nucleotide variant	not provided	GLikely benign
Select item 487480	NM_000531.5(OTC):c.-157T>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3071198	NC_000023.11:g.38352554T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487342	NC_000023.11:g.38352555G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487341	NM_000531.5(OTC):c.-139A>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487343	NM_000531.5(OTC):c.-116C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487344	NM_000531.5(OTC):c.-115C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487338	NC_000023.11:g.38352591C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 368256	NM_000531.6(OTC):c.-48G>T	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency +1 more	GBenign/Likely 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 203868	NM_000531.6(OTC):c.-4G>A	OTC	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 97131	NM_000531.6(OTC):c.1A>T (p.Met1Leu)	OTC (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 97130	NM_000531.6(OTC):c.1A>G (p.Met1Val)	OTC (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 97164	NM_000531.6(OTC):c.2T>C (p.Met1Thr)	OTC (M1T)	Single nucleotide variant (missense variant +1 more)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97189	NM_000531.6(OTC):c.3G>A (p.Met1Ile)	OTC (M1I)	Single nucleotide variant (missense variant +1 more)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2134006	NM_000531.6(OTC):c.4C>T (p.Leu2=)	OTC	Single nucleotide variant (synonymous 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 751962	NM_000531.6(OTC):c.6G>C (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2092888	NM_000531.6(OTC):c.10A>G (p.Asn4Asp)	OTC (N4D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3242091	NM_000531.6(OTC):c.17G>A (p.Arg6Lys)	OTC (R6K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1099845	NM_000531.6(OTC):c.25T>C (p.Leu9=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97157	NM_000531.6(OTC):c.29_32del (p.Asn10fs)	OTC (N10fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
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 2162857	NM_000531.6(OTC):c.32A>G (p.Asn11Ser)	OTC (N11S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1561820	NM_000531.6(OTC):c.33T>C (p.Asn11=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97194	NM_000531.6(OTC):c.42del (p.Phe14fs)	OTC (F14fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1726983	NM_000531.6(OTC):c.50_53del (p.Gly17fs)	OTC (G17fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 2434521	NM_000531.6(OTC):c.52C>A (p.His18Asn)	OTC (H18N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97239	NM_000531.6(OTC):c.53del (p.His18fs)	OTC (H18fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1487158	NM_000531.6(OTC):c.54C>A (p.His18Gln)	OTC (H18Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1161103	NM_000531.6(OTC):c.54C>T (p.His18=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1585673	NM_000531.6(OTC):c.61A>G (p.Met21Val)	OTC (M21V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2636234	NM_000531.6(OTC):c.62T>C (p.Met21Thr)	OTC (M21T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1127252	NM_000531.6(OTC):c.66T>C (p.Val22=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97292	NM_000531.6(OTC):c.67C>T (p.Arg23Ter)	OTC (R23*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1595975	NM_000531.6(OTC):c.68G>A (p.Arg23Gln)	OTC (R23Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 217299	NM_000531.6(OTC):c.72_77+18del	OTC	Deletion (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 368257	NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	OTC (R26W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1685390	NM_000531.6(OTC):c.77G>T (p.Arg26Leu)	OTC (R26L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97319	NM_000531.6(OTC):c.77G>C (p.Arg26Pro)	OTC (R26P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10993	NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	OTC (R26Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 567293	NM_000531.6(OTC):c.77+2dup	OTC	Duplication (splice donor variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97315	NM_000531.6(OTC):c.77+3_77+6del	OTC	Deletion (splice donor variant)	not provided	GPathogenic
Select item 97314	NM_000531.6(OTC):c.77+1G>T	OTC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 97313	NM_000531.6(OTC):c.77+1G>A	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97316	NM_000531.6(OTC):c.77+4A>C	OTC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 870325	NM_000531.6(OTC):c.77+5G>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97317	NM_000531.6(OTC):c.77+5G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1589438	NM_000531.6(OTC):c.77+7G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1552554	NM_000531.6(OTC):c.77+8A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 510531	NM_000531.6(OTC):c.77+9T>A	OTC	Single nucleotide variant (intron variant)	not specified	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 2756534	NM_000531.6(OTC):c.77+20T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1599228	NM_000531.6(OTC):c.77+3054A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GBenign
Select item 680967	NM_000531.6(OTC):c.78-233G>C	OTC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195735	NM_000531.6(OTC):c.78-208C>T	OTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250323	NM_000531.6(OTC):c.78-103dup	OTC	Duplication (intron variant)	not provided	GBenign
Select item 1216660	NM_000531.6(OTC):c.78-102_78-99del	OTC	Deletion (intron variant)	not provided	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 2878797	NM_000531.6(OTC):c.78-12C>A	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 2763082	NM_000531.6(OTC):c.78-5T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97321	NM_000531.6(OTC):c.78-3C>G	OTC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2582607	NM_000531.6(OTC):c.78-2A>G	OTC	Single nucleotide variant (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 1469574	NM_000531.6(OTC):c.78-1G>T	OTC	Single nucleotide variant (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97320	NM_000531.6(OTC):c.78-1G>C	OTC	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 3045533	NM_000531.6(OTC):c.78G>A (p.Arg26=)	OTC	Single nucleotide variant (synonymous variant)	OTC-related disorder	GLikely benign
Select item 1580686	NM_000531.6(OTC):c.81T>C (p.Cys27=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
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 972786	NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	OTC (Q29E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 392139	NM_000531.6(OTC):c.87A>G (p.Gln29=)	OTC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1917235	NM_000531.6(OTC):c.88C>T (p.Pro30Ser)	OTC (P30S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1466747	NM_000531.6(OTC):c.89C>A (p.Pro30Gln)	OTC (P30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2129371	NM_000531.6(OTC):c.93A>G (p.Leu31=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97369	NM_000531.6(OTC):c.94C>T (p.Gln32Ter)	OTC (Q32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 765991	NM_000531.6(OTC):c.105G>A (p.Val35=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97105	NM_000531.6(OTC):c.106C>T (p.Gln36Ter)	OTC (Q36*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 384579	NM_000531.6(OTC):c.114G>A (p.Lys38=)	OTC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 97106	NM_000531.6(OTC):c.115G>T (p.Gly39Cys)	OTC (G39C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3238734	NM_000531.6(OTC):c.116G>T (p.Gly39Val)	OTC (G39V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 915469	NM_000531.6(OTC):c.116G>C (p.Gly39Ala)	OTC (G39A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 654598	NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	OTC (G39D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2737202	NM_000531.6(OTC):c.119G>T (p.Arg40Leu)	OTC (R40L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
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 97107	NM_000531.6(OTC):c.122A>G (p.Asp41Gly)	OTC (D41G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 1720979	NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)	OTC (L42H)	Indel (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1707591	NM_000531.6(OTC):c.125T>A (p.Leu42His)	OTC (L42H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1348491	NM_000531.6(OTC):c.127C>A (p.Leu43Ile)	OTC (L43I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +2 more	GUncertain significance

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