ClinVar for OMIM (Select 300461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 97380	NM_000531.6(OTC):c.996G>A (p.Trp332Ter)	OTC (W332*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97379	NM_000531.6(OTC):c.995G>A (p.Trp332Ter)	OTC (W332*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97378	NM_000531.6(OTC):c.994T>A (p.Trp332Arg)	OTC (W332R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97377	NM_000531.6(OTC):c.991A>T (p.Lys331Ter)	OTC (K331*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97376	NM_000531.6(OTC):c.988A>G (p.Arg330Gly)	OTC (R330G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 97375	NM_000531.6(OTC):c.982G>T (p.Glu328Ter)	OTC (E328*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97374	NM_000531.6(OTC):c.976G>A (p.Glu326Lys)	OTC (E326K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97373	NM_000531.6(OTC):c.962C>A (p.Ser321Ter)	OTC (S321*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97372	NM_000531.6(OTC):c.959G>T (p.Arg320Leu)	OTC (R320L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97371	NM_000531.6(OTC):c.958C>T (p.Arg320Ter)	OTC (R320*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 97370	NM_000531.6(OTC):c.953C>T (p.Ser318Phe)	OTC (S318F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97369	NM_000531.6(OTC):c.94C>T (p.Gln32Ter)	OTC (Q32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97368	NM_000531.6(OTC):c.947T>C (p.Phe316Ser)	OTC (F316S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97367	NM_000531.6(OTC):c.944T>G (p.Val315Gly)	OTC (V315G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97366	NM_000531.6(OTC):c.944T>A (p.Val315Asp)	OTC (V315D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 97365	NM_000531.6(OTC):c.943G>T (p.Val315Phe)	OTC (V315F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97364	NM_000531.6(OTC):c.941_943del (p.Glu314del)	OTC (E314del)	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 97363	NM_000531.6(OTC):c.931G>A (p.Val311Met)	OTC (V311M)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97362	NM_000531.6(OTC):c.929A>G (p.Glu310Gly)	OTC (E310G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97361	NM_000531.6(OTC):c.928G>T (p.Glu310Ter)	OTC (E310*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97360	NM_000531.6(OTC):c.914C>G (p.Pro305Arg)	OTC (P305R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97359	NM_000531.6(OTC):c.914C>A (p.Pro305His)	OTC (P305H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97358	NM_000531.6(OTC):c.908G>A (p.Cys303Tyr)	OTC (C303Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97357	NM_000531.6(OTC):c.907T>G (p.Cys303Gly)	OTC (C303G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97356	NM_000531.6(OTC):c.907T>C (p.Cys303Arg)	OTC (C303R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97355	NM_000531.6(OTC):c.906del (p.Cys303fs)	OTC (C303fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 97354	NM_000531.6(OTC):c.906C>G (p.His302Gln)	OTC (H302Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97353	NM_000531.6(OTC):c.905A>T (p.His302Leu)	OTC (H302L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97352	NM_000531.6(OTC):c.905A>G (p.His302Arg)	OTC (H302R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97351	NM_000531.6(OTC):c.904C>T (p.His302Tyr)	OTC (H302Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97350	NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	OTC (L301F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic
Select item 97349	NM_000531.6(OTC):c.893G>C (p.Trp298Ser)	OTC (W298S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97348	NM_000531.6(OTC):c.892_893del (p.Trp298fs)	OTC (W298fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 97347	NM_000531.6(OTC):c.890_893del (p.Asp297fs)	OTC (D297fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 97346	NM_000531.6(OTC):c.882del (p.Ala295fs)	OTC (A295fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 97345	NM_000531.6(OTC):c.876del (p.Val293fs)	OTC (V293fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 97344	NM_000531.6(OTC):c.867G>T (p.Lys289Asn)	OTC (K289N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97343	NM_000531.6(OTC):c.867+1G>T	OTC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 97342	NM_000531.6(OTC):c.867+1G>A	OTC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 97341	NM_000531.6(OTC):c.835C>T (p.Gln279Ter)	OTC (Q279*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97340	NM_000531.6(OTC):c.830G>T (p.Arg277Leu)	OTC (R277L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97339	NM_000531.6(OTC):c.830G>A (p.Arg277Gln)	OTC (R277Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 97338	NM_000531.6(OTC):c.818del (p.Glu273fs)	OTC (E273fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 97337	NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	OTC (E273del)	Microsatellite (inframe_deletion)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic
Select item 97336	NM_000531.6(OTC):c.809A>C (p.Gln270Pro)	OTC (Q270P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97335	NM_000531.6(OTC):c.808C>T (p.Gln270Ter)	OTC (Q270*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97334	NM_000531.6(OTC):c.806G>A (p.Gly269Glu)	OTC (G269E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97333	NM_000531.6(OTC):c.803T>C (p.Met268Thr)	OTC (M268T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic
Select item 97332	NM_000531.6(OTC):c.799A>C (p.Ser267Arg)	OTC (S267R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97331	NM_000531.6(OTC):c.795G>A (p.Trp265Ter)	OTC (W265*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97330	NM_000531.6(OTC):c.794G>T (p.Trp265Leu)	OTC (W265L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97329	NM_000531.6(OTC):c.793T>C (p.Trp265Arg)	OTC (W265R)	Single nucleotide variant (missense variant)	OTC-related condition	GUncertain significance
Select item 97328	NM_000531.6(OTC):c.791C>T (p.Thr264Ile)	OTC (T264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 97327	NM_000531.6(OTC):c.791C>A (p.Thr264Asn)	OTC (T264N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97326	NM_000531.6(OTC):c.790A>G (p.Thr264Ala)	OTC (T264A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97325	NM_000531.6(OTC):c.788A>G (p.Asp263Gly)	OTC (D263G)	Single nucleotide variant (missense variant)	OTC-related condition	GLikely pathogenic
Select item 97324	NM_000531.6(OTC):c.787G>A (p.Asp263Asn)	OTC (D263N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97323	NM_000531.6(OTC):c.785C>T (p.Thr262Ile)	OTC (T262I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97322	NM_000531.6(OTC):c.785C>A (p.Thr262Lys)	OTC (T262K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97321	NM_000531.6(OTC):c.78-3C>G	OTC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 97320	NM_000531.6(OTC):c.78-1G>C	OTC	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 97319	NM_000531.6(OTC):c.77G>C (p.Arg26Pro)	OTC (R26P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97318	NM_000531.6(OTC):c.779T>C (p.Leu260Ser)	OTC (L260S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97317	NM_000531.6(OTC):c.77+5G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97316	NM_000531.6(OTC):c.77+4A>C	OTC	Single nucleotide variant (intron variant)	not provided	GPathogenic
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 97312	NM_000531.6(OTC):c.764A>C (p.His255Pro)	OTC (H255P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97311	NM_000531.6(OTC):c.759del (p.Ala254fs)	OTC (A254fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 97310	NM_000531.6(OTC):c.757G>C (p.Ala253Pro)	OTC (A253P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97309	NM_000531.6(OTC):c.757G>A (p.Ala253Thr)	OTC (A253T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97308	NM_000531.6(OTC):c.740C>A (p.Thr247Lys)	OTC (T247K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97307	NM_000531.6(OTC):c.731_739del (p.Leu244_Thr247delinsPro)	OTC	Deletion (inframe_indel)	not provided	GPathogenic
Select item 97306	NM_000531.6(OTC):c.731T>A (p.Leu244Gln)	OTC (L244Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97305	NM_000531.6(OTC):c.725C>T (p.Thr242Ile)	OTC (T242I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97304	NM_000531.6(OTC):c.718-2_731del	OTC	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 97303	NM_000531.6(OTC):c.718-2A>G	OTC	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 97302	NM_000531.6(OTC):c.717G>C (p.Glu239Asp)	OTC (E239D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97301	NM_000531.6(OTC):c.717G>A (p.Glu239=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 97300	NM_000531.6(OTC):c.717+8_717+23del	OTC	Deletion (intron variant)	not provided	GPathogenic
Select item 97299	NM_000531.6(OTC):c.717+3A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97298	NM_000531.6(OTC):c.717+1G>T	OTC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 97297	NM_000531.6(OTC):c.717+1G>A	OTC	Single nucleotide variant (splice donor variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97296	NM_000531.6(OTC):c.716A>T (p.Glu239Val)	OTC (E239V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97295	NM_000531.6(OTC):c.716A>G (p.Glu239Gly)	OTC (E239G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97294	NM_000531.6(OTC):c.700G>T (p.Glu234Ter)	OTC (E234*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97293	NM_000531.6(OTC):c.698C>T (p.Ala233Val)	OTC (A233V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 97291	NM_000531.6(OTC):c.674C>G (p.Pro225Arg)	OTC (P225R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97290	NM_000531.6(OTC):c.673C>A (p.Pro225Thr)	OTC (P225T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97289	NM_000531.5(OTC):c.664-1delG	OTC	Deletion	not provided	GPathogenic
Select item 97288	NM_000531.6(OTC):c.664-1G>A	OTC	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 97287	NM_000531.6(OTC):c.663G>C (p.Lys221Asn)	OTC (K221N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 97286	NM_000531.6(OTC):c.663G>A (p.Lys221=)	OTC	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
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 97284	NM_000531.6(OTC):c.663+1G>T	OTC	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 97283	NM_000531.6(OTC):c.663+1G>A	OTC	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 97282	NM_000531.6(OTC):c.659C>T (p.Pro220Leu)	OTC (P220L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 97281	NM_000531.6(OTC):c.658C>G (p.Pro220Ala)	OTC (P220A)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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