"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "OTC"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 452

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 516756	NM_000531.6(OTC):c.-366A>G	OTC	Single nucleotide variant	Ornithine carbamoyltransferase deficiency +2 more	GBenign/Likely benign
Select item 487342	NC_000023.11:g.38352555G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487343	NC_000023.11:g.38352581C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487338	NC_000023.11:g.38352591C>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	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	GConflicting classifications of pathogenicity
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 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 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 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)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 1595975	NM_000531.6(OTC):c.68G>A (p.Arg23Gln)	OTC (R23Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 368257	NM_000531.6(OTC):c.76C>T (p.Arg26Trp)	OTC (R26W)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GUncertain significance
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 97313	NM_000531.6(OTC):c.77+1G>A	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	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 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 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 2763082	NM_000531.6(OTC):c.78-5T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
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 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)	not specified +2 more	GConflicting classifications of pathogenicity
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)	Ornithine carbamoyltransferase deficiency +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 765991	NM_000531.6(OTC):c.105G>A (p.Val35=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
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 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)	not provided +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 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 1348491	NM_000531.6(OTC):c.127C>A (p.Leu43Ile)	OTC (L43I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +2 more	GUncertain significance
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 2128932	NM_000531.6(OTC):c.134T>G (p.Leu45Arg)	OTC (L45R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 10994	NM_000531.6(OTC):c.137A>G (p.Lys46Arg)	OTC (K46R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1994909	NM_000531.6(OTC):c.139A>C (p.Asn47His)	OTC (N47H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GUncertain significance
Select item 97113	NM_000531.6(OTC):c.140A>T (p.Asn47Ile)	OTC (N47I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97112	NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	OTC (N47T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2038715	NM_000531.6(OTC):c.144T>C (p.Phe48=)	OTC	Single nucleotide variant (synonymous 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 1578310	NM_000531.6(OTC):c.147C>G (p.Thr49=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1166654	NM_000531.6(OTC):c.147C>T (p.Thr49=)	OTC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 97117	NM_000531.6(OTC):c.148G>A (p.Gly50Arg)	OTC (G50R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1109234	NM_000531.6(OTC):c.149G>C (p.Gly50Ala)	OTC (G50A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97119	NM_000531.6(OTC):c.154G>T (p.Glu52Ter)	OTC (E52*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97118	NM_000531.6(OTC):c.154G>A (p.Glu52Lys)	OTC (E52K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97122	NM_000531.6(OTC):c.158T>C (p.Ile53Thr)	OTC (I53T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 1606509	NM_000531.6(OTC):c.162A>G (p.Lys54=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1137218	NM_000531.6(OTC):c.171A>G (p.Leu57=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 964262	NM_000531.6(OTC):c.177dup (p.Ser60fs)	OTC (S60fs)	Duplication (frameshift variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97129	NM_000531.6(OTC):c.188T>C (p.Leu63Pro)	OTC (L63P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
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 1122048	NM_000531.6(OTC):c.196A>C (p.Arg66=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97133	NM_000531.6(OTC):c.205C>T (p.Gln69Ter)	OTC (Q69*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 1786041	NM_000531.6(OTC):c.210A>G (p.Lys70=)	OTC	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 97134	NM_000531.6(OTC):c.216+1G>A	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 1968887	NM_000531.6(OTC):c.216+5G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1658418	NM_000531.6(OTC):c.216+8A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 368258	NM_000531.6(OTC):c.216+9C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	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 2722841	NM_000531.6(OTC):c.216+15C>T	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 1615336	NM_000531.6(OTC):c.217-13C>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1105631	NM_000531.6(OTC):c.217-5TA[4]	OTC	Microsatellite (splice acceptor variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1659297	NM_000531.6(OTC):c.217-4A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2015905	NM_000531.6(OTC):c.229T>C (p.Leu77=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97138	NM_000531.6(OTC):c.231G>T (p.Leu77Phe)	OTC (L77F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 1504390	NM_000531.6(OTC):c.241T>C (p.Ser81Pro)	OTC (S81P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1410482	NM_000531.6(OTC):c.242C>T (p.Ser81Phe)	OTC (S81F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1619854	NM_000531.6(OTC):c.244T>C (p.Leu82=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 957857	NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)	OTC (R89del)	Microsatellite (inframe_deletion)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 589416	NM_000531.6(OTC):c.270T>C (p.Ser90=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 97151	NM_000531.6(OTC):c.274C>T (p.Arg92Ter)	OTC (R92*)	Single nucleotide variant (nonsense)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 97152	NM_000531.6(OTC):c.275G>A (p.Arg92Gln)	OTC (R92Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 1129030	NM_000531.6(OTC):c.283T>C (p.Leu95=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 959988	NM_000531.6(OTC):c.286T>C (p.Ser96Pro)	OTC (S96P)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 97158	NM_000531.6(OTC):c.292G>A (p.Glu98Lys)	OTC (E98K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 836194	NM_000531.6(OTC):c.298+3_298+6del	OTC	Deletion (splice donor variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 529421	NM_000531.6(OTC):c.298+2dup	OTC	Duplication (splice donor variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97159	NM_000531.6(OTC):c.298+1G>A	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic

<< First< Prev

Page of 5