MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1635
Name:Carbamoyl-Phosphate Synthase I Deficiency Disease
Definition:A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Alternative IDs:OMIM:237300
ParentIDs:MESH:D028361|MESH:D056806
TreeNumbers:C10.228.140.163.100.937.249 |C16.320.565.100.940.249 |C16.320.565.189.937.249 |C18.452.132.100.937.249 |C18.452.648.100.940.249 |C18.452.648.189.937.249 |C18.452.660.097
Synonyms:Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease |Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) |Carbamoyl Phosphate Synthetase I Deficiency |Carbamoylphosphate Synthetase I Deficiency Disease |Carbamoy
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D020165
MeSH: D020165
OMIM: 237300;
MSeqDR LSDB: 00085;  
Genes: CPS1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003355Aminoaciduriahallmark
3 HP:0001251Ataxia
4 HP:0002181Cerebral edema
5 HP:0001259Coma
6 HP:0001951Episodic ammonia intoxication
7 HP:0001508Failure to thrive
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
10 HP:0001987Hyperammonemiahallmark
11 HP:0001987Hyperammonemia
12 HP:0005961Hypoargininemia
13 HP:0001249Intellectual disability
14 HP:0000737Irritability
15 HP:0001254Lethargy
16 HP:0003572Low plasma citrulline
17 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
hallmark
18 HP:0002038Protein avoidance
19 HP:0001950Respiratory alkalosis
20 HP:0002093Respiratory insufficiencyhallmark
21 HP:0001250Seizures
NAMDC:  Seizures
hallmark
22 HP:0001250Seizures
NAMDC:  Seizures
23 HP:0001297Stroke
NAMDC:  Strokes or Stroke-like lesions*
rare
24 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001122633.2(CPS1):c.2T>G (p.Met1Arg)1373CPS1Uncertain significance763703546RCV000671224; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211342489211342489-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.-78956G>A1373CPS1Benign17552879RCV000625219; RCV000124595; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211342502211342502-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.-128G>A1373CPS1Uncertain significance182021022RCV000366183; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211421330211421330-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.-76A>G1373CPS1Uncertain significance372753413RCV000271665; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211421382211421382-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.-29T>G1373CPS1Conflicting interpretations of pathogenicity147937942RCV000322463; RCV000437055; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211421429211421429-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.-4_-3insTTC1373CPS1Benign61509952RCV000377067; RCV000509330; RCV000185816; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211421454211421455-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.-3delAinsTTCC1373CPS1Uncertain significance1553507151RCV000671156; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211421454211421455-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3G>T (p.Met1Ile)1373CPS1Likely pathogenic1553507155RCV000669628; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211421460211421460-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.5C>T (p.Thr2Met)1373CPS1Uncertain significance150314086RCV000268597; RCV000523694; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211421462211421462-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.25A>T (p.Lys9Ter)1373CPS1Likely pathogenic1553507167RCV000673929; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211421482211421482-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.126+1G>A1373CPS1Likely pathogenic1553507183RCV000667346; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211421584211421584-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.130C>T (p.Gln44Ter)1373CPS1Pathogenic121912593RCV000002521; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211438025211438025OMIM Allelic Variant:608307.0003C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.167T>G (p.Met56Arg)1373CPS1Uncertain significance778958318RCV000667001; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211438062211438062-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.186C>T (p.Gly62=)1373CPS1Uncertain significance529836556RCV000323691; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211438081211438081-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.195C>T (p.Ser65=)1373CPS1Conflicting interpretations of pathogenicity192759073RCV000373435; RCV000600453; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211438090211438090-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.209_216dup (p.Phe73Lysfs)1373CPS1Likely pathogenic1553509010RCV000477877; RCV000477877; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C3714958,OMIM:6153712211438104211438111NC_000002.11:g.211438104_211438111dupAAGTGGTT-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.236+1G>T1373CPS1Likely pathogenic1553509023RCV000672330; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211438132211438132-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.236+5G>A1373CPS1Uncertain significance1553509024RCV000540344; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211438136211438136-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.259C>T (p.Pro87Ser)1373CPS1Uncertain significance1553509297RCV000666729; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211441092211441092-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.295C>A (p.Pro99Thr)1373CPS1Uncertain significance140999077RCV000279135; RCV000732850; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211441128211441128-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.301delA (p.Ile101Leufs)1373CPS1Likely pathogenic1553509303RCV000671809; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211441133211441134-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.303T>G (p.Ile101Met)1373CPS1Uncertain significance-1RCV000690642; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211441136211441136-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.306_311dup (p.Gly104_Gly105insAsnGly)1373CPS1Uncertain significance1288123680RCV000529677; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211441139211441144-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.449G>A (p.Gly150Glu)1373CPS1Conflicting interpretations of pathogenicity114819130RCV000338838; RCV000514724; RCV000479247; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211442212211442212-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.486T>C (p.Tyr162=)1373CPS1Conflicting interpretations of pathogenicity138779023RCV000374734; RCV000185813; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211444452211444452-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.520C>T (p.Arg174Trp)1373CPS1Uncertain significance1553509661RCV000672320; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211444486211444486-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.528G>A (p.Lys176=)1373CPS1Uncertain significance-1RCV000703633; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211444494211444494-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.528+9A>G1373CPS1Conflicting interpretations of pathogenicity369476447RCV000293388; RCV000603825; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211444503211444503-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.529-4A>T1373CPS1Benign/Likely benign191182348RCV000655214; RCV000434885; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211447337211447337-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.586A>G (p.Asn196Asp)1373CPS1Uncertain significance-1RCV000707704; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211447398211447398-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.594_595delGA (p.Asn199Phefs)1373CPS1Likely pathogenic1553509924RCV000669673; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211447404211447406-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.637G>A (p.Gly213Ser)1373CPS1Uncertain significance138392504RCV000348342; RCV000731749; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211452797211452797-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.697C>T (p.Arg233Cys)1373CPS1Uncertain significance767905306RCV000548691; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211452857211452857-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.711+1G>C1373CPS1Likely pathogenic1553510520RCV000674114; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211452872211452872-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.712C>T (p.Arg238Ter)1373CPS1Likely pathogenic761225695RCV000674394; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211454830211454830-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.713G>A (p.Arg238Gln)1373CPS1Uncertain significance-1RCV000707498; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211454831211454831-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4:c.731delT1373CPS1Likely pathogenic-1RCV000781315; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211454849211454849-
NM_001875.4(CPS1):c.763G>T (p.Glu255Ter)1373CPS1Likely pathogenic756021170RCV000666827; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211454881211454881-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.783C>T (p.Ile261=)1373CPS1Conflicting interpretations of pathogenicity142468138RCV000404752; RCV000603668; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211454901211454901-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.798delG (p.Asn267Thrfs)1373CPS1Likely pathogenic1553510944RCV000674756; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211454912211454913-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.840_840+5dup1373CPS1Uncertain significance1273243029RCV000671367; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211454956211454956-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.902G>A (p.Gly301Glu)1373CPS1Uncertain significance973321068RCV000664568; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211455585211455585-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.937A>G (p.Met313Val)1373CPS1Uncertain significance587780323RCV000294563; RCV000116833; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211455620211455620-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.945C>G (p.Asn315Lys)1373CPS1Uncertain significance761974037RCV000344940; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211455628211455628-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.948-6C>T1373CPS1Conflicting interpretations of pathogenicity112199960RCV000405565; RCV000435030; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211456549211456549-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1010A>G (p.His337Arg)1373CPS1Pathogenic28940283RCV000002522; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211456617211456617OMIM Allelic Variant:608307.0004,UniProtKB (protein):P31327#VAR_014077C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1021T>G (p.Leu341Val)1373CPS1Uncertain significance138424013RCV000309973; RCV000731747; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211456628211456628-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1028_1030delACA (p.Asn343del)1373CPS1Uncertain significance1553511264RCV000664520; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211456631211456634-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1030A>G (p.Thr344Ala)1373CPS1Benign1047883RCV000364698; RCV000589181; RCV000116829; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211456637211456637UniProtKB (protein):P31327#VAR_006834C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1030A>T (p.Thr344Ser)1373CPS1Benign/Likely benign1047883RCV000396067; RCV000275942; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211456637211456637UniProtKB (protein):P31327#VAR_061752C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1032C>T (p.Thr344=)1373CPS1Benign2229589RCV000302372; RCV000116830; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211456639211456639-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1063A>G (p.Asn355Asp)1373CPS1Uncertain significance-1RCV000779301; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211456670211456670-
NM_001875.4(CPS1):c.1068C>G (p.Val356=)1373CPS1Benign/Likely benign34022862RCV000361706; RCV000426377; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211456675211456675-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1086+1G>A1373CPS1Likely pathogenic1553511326RCV000672677; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211456694211456694-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1087-7C>T1373CPS1Conflicting interpretations of pathogenicity202117044RCV000267073; RCV000601231; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211457596211457596-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1145C>T (p.Pro382Leu)1373CPS1Uncertain significance201407486RCV000665437; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211457661211457661-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1165-5T>C1373CPS1Benign/Likely benign565003226RCV000655215; RCV000427725; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211459227211459227-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1187C>A (p.Ser396Ter)1373CPS1Likely pathogenic961015305RCV000669529; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211459254211459254-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1201G>C (p.Gly401Arg)1373CPS1Uncertain significance760895692RCV000673871; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211459268211459268-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1263+5G>C1373CPS1Likely pathogenic1275489342RCV000672757; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211459335211459335-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1307G>A (p.Gly436Asp)1373CPS1Uncertain significance1553511785RCV000539406; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211460254211460254-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1312G>C (p.Ala438Pro)1373CPS1Likely pathogenic772497399RCV000702328; RCV000520090; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211460259211460259-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1312G>A (p.Ala438Thr)1373CPS1Uncertain significance772497399RCV000667522; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211460259211460259-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1323dup (p.Asp442Terfs)1373CPS1Likely pathogenic1553511789RCV000674202; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211460267211460267-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1355T>C (p.Met452Thr)1373CPS1Uncertain significance1553511794RCV000672790; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211460302211460302-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1359+7G>A1373CPS1Conflicting interpretations of pathogenicity16844647RCV000317416; RCV000429592; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211460313211460313-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1413dup (p.Asn472Glnfs)1373CPS1Likely pathogenic1553512225RCV000668963; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211464147211464147-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1437G>A (p.Ala479=)1373CPS1Benign/Likely benign80261173RCV000551892; RCV000430416; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211464173211464173-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1478C>T (p.Thr493Ile)1373CPS1Uncertain significance199878637RCV000353585; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211464214211464214-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1529delG (p.Gly510Alafs)1373CPS1Pathogenic764384490RCV000669266; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211464263211464264-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1569A>G (p.Arg523=)1373CPS1Likely benign140475976RCV000655218; RCV000608594; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211465298211465298-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1627G>A (p.Ala543Thr)1373CPS1Uncertain significance-1RCV000698946; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211465356211465356-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1631C>T (p.Thr544Met)1373CPS1Pathogenic121912592RCV000002520; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211465360211465360OMIM Allelic Variant:608307.0002,UniProtKB (protein):P31327#VAR_006835C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1648T>C (p.Phe550Leu)1373CPS1Uncertain significance-1RCV000688098; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211465377211465377-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1760G>A (p.Arg587His)1373CPS1Likely pathogenic1553512642RCV000664516; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211466978211466978-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1775dup (p.Gly594Trpfs)1373CPS1Likely pathogenic1341782266RCV000665850; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211466992211466992-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1837-8A>G1373CPS1Uncertain significance1290474919RCV000674344; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211469818211469818-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1864G>A (p.Val622Met)1373CPS1Uncertain significance1553512962RCV000672370; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211469853211469853-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1895T>G (p.Ile632Arg)1373CPS1Uncertain significance1553512974RCV000674945; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211469884211469884-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1912C>T (p.Arg638Ter)1373CPS1Pathogenic759201450RCV000655211; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211469901211469901-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1926delC (p.Asp642Glufs)1373CPS1Pathogenic/Likely pathogenic1326644714RCV000690237; RCV000523444; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211469915211469915-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1982-8A>T1373CPS1Uncertain significance563304664RCV000263462; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211471447211471447-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.1982-1G>C1373CPS1Uncertain significance-1RCV000779302; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211471454211471454-
NM_001875.4(CPS1):c.2148T>A (p.Asn716Lys)1373CPS1Conflicting interpretations of pathogenicity369061090RCV000667844; RCV000344019; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN5172022211471621211471621UniProtKB (protein):P31327#VAR_066144C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2161C>T (p.Arg721Ter)1373CPS1Likely pathogenic202107577RCV000669578; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211471634211471634-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2192+6A>T1373CPS1Conflicting interpretations of pathogenicity201058019RCV000318568; RCV000443839; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211471671211471671-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2193-15G>T1373CPS1Benign2287600RCV000385755; RCV000585997; RCV000124590; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211473070211473070-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2193-1G>T1373CPS1Likely pathogenic1553513387RCV000673757; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211473084211473084-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2227delC (p.Leu743Terfs)1373CPS1Likely pathogenic781088670RCV000673682; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211473116211473117-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2265C>A (p.Ser755=)1373CPS1Benign/Likely benign41272667RCV000296134; RCV000252194; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211473157211473157-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2265C>T (p.Ser755=)1373CPS1Benign/Likely benign41272667RCV000332458; RCV000436611; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211473157211473157-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2359C>T (p.Arg787Ter)1373CPS1Pathogenic121912596RCV000002528; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211473251211473251OMIM Allelic Variant:608307.0009C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2376G>C (p.Met792Ile)1373CPS1Likely pathogenic1553513429RCV000655213; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211473268211473268-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2391+1G>A1373CPS1Likely pathogenic1553513433RCV000668711; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211473284211473284-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2392-1G>T1373CPS1Likely pathogenic755882799RCV000671803; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476840211476840-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2394C>A (p.Val798=)1373CPS1Benign/Likely benign35678745RCV000382383; RCV000418912; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211476843211476843-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2407C>T (p.Arg803Cys)1373CPS1Uncertain significance201716417RCV000552829; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476856211476856-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2415T>G (p.Phe805Leu)1373CPS1Uncertain significance1553513861RCV000669454; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476864211476864-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2421G>A (p.Glu807=)1373CPS1Benign/Likely benign140726293RCV000655216; RCV000605152; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211476870211476870-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2429A>G (p.Gln810Arg)1373CPS1Likely pathogenic1553513864RCV000674758; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476878211476878-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2440C>T (p.Arg814Trp)1373CPS1Uncertain significance772782772RCV000672818; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476889211476889-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2441G>A (p.Arg814Gln)1373CPS1Uncertain significance200731808RCV000533392; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476890211476890-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2446T>C (p.Cys816Arg)1373CPS1Uncertain significance1553513870RCV000667981; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476895211476895-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2448C>T (p.Cys816=)1373CPS1Benign/Likely benign75395645RCV000287983; RCV000124591; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211476897211476897-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2537C>T (p.Pro846Leu)1373CPS1Uncertain significance1486364626RCV000673373; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211476986211476986-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2582_2584delACA (p.Asn861del)1373CPS1Uncertain significance763006780RCV000666430; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211481156211481159-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2679C>G (p.Gly893=)1373CPS1Benign2287599RCV000347604; RCV000509201; RCV000116831; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211481257211481257-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2732G>A (p.Gly911Glu)1373CPS1Uncertain significance1388955593RCV000667982; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211502470211502470-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2738C>T (p.Ser913Leu)1373CPS1Uncertain significance754706559RCV000674444; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211502476211502476-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2740G>C (p.Asp914His)1373CPS1Uncertain significance765484849RCV000671041; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211502478211502478-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2749A>G (p.Ile917Val)1373CPS1Uncertain significance886055552RCV000407756; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211502487211502487-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2809_2810delAT (p.Ile937Profs)1373CPS1Conflicting interpretations of pathogenicity1318756445RCV000673303; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211502546211502548-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2810T>A (p.Ile937Asn)1373CPS1Uncertain significance760714614RCV000673875; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211502548211502548-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2830-18A>G1373CPS1Benign116664530RCV000624936; RCV000124593; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211503856211503856-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2845G>A (p.Ala949Thr)1373CPS1Uncertain significance537170841RCV000553758; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211503889211503889-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2883_2895del13 (p.Tyr962Serfs)1373CPS1Likely pathogenic1375304341RCV000589986; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211503927211503939-
NM_001875.4(CPS1):c.2909A>G (p.Asn970Ser)1373CPS1Uncertain significance-1RCV000687855; RCV000764358; RCV000764358; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C3714958,OMIM:6153712211504733211504733-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2944G>A (p.Gly982Ser)1373CPS1Uncertain significance757059355RCV000669754; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211504768211504768-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2945G>A (p.Gly982Asp)1373CPS1Pathogenic121912595RCV000002526; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211504769211504769OMIM Allelic Variant:608307.0007,UniProtKB (protein):P31327#VAR_063570C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2945G>T (p.Gly982Val)1373CPS1Uncertain significance121912595RCV000668782; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211504769211504769-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2957T>C (p.Ile986Thr)1373CPS1Uncertain significance1553516442RCV000674512; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211504781211504781-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2959+1delG1373CPS1Uncertain significance-1RCV000778586; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211504782211504783-
NM_001875.4(CPS1):c.2959G>T (p.Gly987Cys)1373CPS1Uncertain significance1553516443RCV000664614; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211504783211504783-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.2993C>T (p.Ser998Phe)1373CPS1Uncertain significance1404696893RCV000667866; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211507241211507241-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3037_3039del (p.Val1013del)1373CPS1Pathogenic727502824RCV000149915; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211507285211507287OMIM Allelic Variant:608307.0013C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3047A>G (p.Asn1016Ser)1373CPS1Uncertain significance749238466RCV000666208; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211507295211507295-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3069C>G (p.Asp1023Glu)1373CPS1Uncertain significance-1RCV000707548; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211507317211507317-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3121C>T (p.Leu1041=)1373CPS1Uncertain significance146064786RCV000284376; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211507369211507369-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3141+1G>A1373CPS1Likely pathogenic1553516660RCV000674031; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211507390211507390-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3141+15delA1373CPS1Conflicting interpretations of pathogenicity577707531RCV000339021; RCV000513937; RCV000479720; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211507404211507404-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3185delA (p.Asn1062Thrfs)1373CPS1Likely pathogenic1553517122RCV000671123; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211512627211512628-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3194C>A (p.Ala1065Glu)1373CPS1Uncertain significance770471782RCV000674361; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211512639211512639-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3265C>T (p.Arg1089Cys)1373CPS1Uncertain significance1392559810RCV000666361; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211512710211512710-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3355G>A (p.Ala1119Thr)1373CPS1Benign/Likely benign76340296RCV000403764; RCV000224218; RCV000430042; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211513215211513215-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3375delC (p.Cys1126Alafs)1373CPS1Likely pathogenic1553517224RCV000674980; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211513231211513232-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3443T>A (p.Met1148Lys)1373CPS1Uncertain significance1553517387RCV000672099; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211515125211515125-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3464C>T (p.Ala1155Val)1373CPS1Uncertain significance766125631RCV000546829; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211515146211515146-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3481-8C>T1373CPS1Conflicting interpretations of pathogenicity41272669RCV000304016; RCV000416013; RCV000248647; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN517202; MedGen:CN1693742211518741211518741-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3481-7G>A1373CPS1Conflicting interpretations of pathogenicity368909569RCV000354131; RCV000606745; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211518742211518742-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3558_3558+1dup1373CPS1Likely pathogenic1553517670RCV000671406; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211518824211518824-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3558+1G>C1373CPS1Pathogenic-1RCV000023698; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211518827211518827OMIM Allelic Variant:608307.0010
NM_001875.4(CPS1):c.3558+7G>A1373CPS1Uncertain significance764456030RCV000396436; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211518833211518833-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3559-2A>G1373CPS1Likely pathogenic766584384RCV000667803; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211521247211521247-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3626T>C (p.Met1209Thr)1373CPS1Conflicting interpretations of pathogenicity200569046RCV000655217; RCV000192871; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211521316211521316-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3643A>G (p.Ile1215Val)1373CPS1Uncertain significance141373204RCV000655210; RCV000764359; RCV000764359; RCV000224815; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C3714958,OMIM:615371; MedGen:CN5172022211521333211521333UniProtKB (protein):P31327#VAR_063574C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3683G>A (p.Arg1228Gln)1373CPS1Uncertain significance778117194RCV000665179; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211523339211523339-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3723C>T (p.Asn1241=)1373CPS1Likely benign760598756RCV000655212; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211523379211523379-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3784C>T (p.Arg1262Ter)1373CPS1Pathogenic1414143303RCV000667858; RCV000763066; RCV000763066; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C3714958,OMIM:6153712211525236211525236-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3785G>A (p.Arg1262Gln)1373CPS1Uncertain significance750670270RCV000670316; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211525237211525237-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3857A>T (p.Glu1286Val)1373CPS1Uncertain significance886055554RCV000300569; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211525309211525309-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3874C>T (p.His1292Tyr)1373CPS1Uncertain significance886055555RCV000355449; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211525326211525326-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3928-19_3928-18delTT1373CPS1Benign/Likely benign397703682RCV000624937; RCV000493048; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211527828211527829-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3928-8delT1373CPS1Benign/Likely benign397703682RCV000624938; RCV000248100; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211527839211527839-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3952T>G (p.Leu1318Val)1373CPS1Uncertain significance769593170RCV000671654; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211527871211527871-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.3980G>A (p.Cys1327Tyr)1373CPS1Pathogenic1553518389RCV000578300; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211527899211527899-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4002+2T>A1373CPS1Likely pathogenic1553518395RCV000670805; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211527923211527923-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4003-2A>T1373CPS1Likely pathogenic1553518719RCV000668983; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211532908211532908-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4003-1G>C1373CPS1Likely pathogenic1553518720RCV000667061; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211532909211532909-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4056delC (p.Thr1353Glnfs)1373CPS1Likely pathogenic1553518726RCV000674800; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211532961211532962-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4068G>A (p.Lys1356=)1373CPS1Likely benign1425920194RCV000543060; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211532975211532975-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4101+2T>C1373CPS1Likely pathogenic767575696RCV000668329; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211533010211533010OMIM Allelic Variant:608307.0011C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4102-563G>A1373CPS1Likely benign207462825RCV000666369; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211539063211539063-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4102-561T>C1373CPS1Likely benign550848657RCV000666368; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211539065211539065-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4102-559G>C1373CPS1Likely benign529803364RCV000666367; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211539067211539067-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4112G>A (p.Arg1371Gln)1373CPS1Uncertain significance-1RCV000702231; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211539636211539636-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4126G>A (p.Gly1376Ser)1373CPS1Benign140578009RCV000560165; RCV000253072; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211539650211539650UniProtKB (protein):P31327#VAR_017568C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4172C>T (p.Thr1391Met)1373CPS1Uncertain significance1392934477RCV000668071; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211540462211540462-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4217C>A (p.Thr1406Asn)1373CPS1Benign1047891RCV000274786; RCV000116832; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211540507211540507UniProtKB (protein):P31327#VAR_017569C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4232C>T (p.Pro1411Leu)1373CPS1Uncertain significance1202306773RCV000670333; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211540522211540522-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4252C>T (p.Pro1418Ser)1373CPS1Uncertain significance150966847RCV000330453; RCV000764360; RCV000764360; RCV000177871; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:C3714958,OMIM:615371; MedGen:CN5172022211540542211540542-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4260C>G (p.Leu1420=)1373CPS1Conflicting interpretations of pathogenicity138395129RCV000371062; RCV000425716; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211540550211540550-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4274+2T>C1373CPS1Conflicting interpretations of pathogenicity1374322297RCV000672280; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211540566211540566-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4275-10A>G1373CPS1Benign/Likely benign41272673RCV000276425; RCV000185815; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211541721211541721-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4382T>A (p.Ile1461Asn)1373CPS1Uncertain significance-1RCV000699442; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211541838211541838-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4404+4T>A1373CPS1Conflicting interpretations of pathogenicity199739254RCV000326845; RCV000607346; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:62522004; MedGen:CN1693742211541864211541864-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4471T>C (p.Tyr1491His)1373CPS1Uncertain significance1553519513RCV000674961; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211542677211542677-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.4501T>G (p.Ter1501Glu)1373CPS1Uncertain significance762494955RCV000669965; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211542707211542707-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*5G>A1373CPS1Uncertain significance886055556RCV000381355; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211542714211542714-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*74T>C1373CPS1Uncertain significance886055557RCV000291570; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211542783211542783-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*187C>T1373CPS1Uncertain significance543723956RCV000328001; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211542896211542896-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*235A>T1373CPS1Uncertain significance6728169RCV000377862; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211542944211542944-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*311A>G1373CPS1Uncertain significance886055558RCV000283734; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543020211543020-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*346T>C1373CPS1Benign715RCV000343467; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543055211543055-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*380C>G1373CPS1Likely benign10932349RCV000379437; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543089211543089-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*387C>T1373CPS1Uncertain significance886055559RCV000280091; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543096211543096-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*438T>G1373CPS1Benign7684RCV000335404; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543147211543147-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*692C>G1373CPS1Benign12476133RCV000405913; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543401211543401-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*739T>G1373CPS1Uncertain significance886055560RCV000300206; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543448211543448-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*754T>G1373CPS1Likely benign73078125RCV000350470; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543463211543463-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*777A>G1373CPS1Uncertain significance886055561RCV000402906; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543486211543486-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*849A>G1373CPS1Uncertain significance150782174RCV000313255; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543558211543558-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*946C>T1373CPS1Uncertain significance139770263RCV000363373; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543655211543655-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*976C>T1373CPS1Uncertain significance763063376RCV000268767; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543685211543685-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*1040C>T1373CPS1Uncertain significance886055562RCV000309912; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543749211543749-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*1068G>T1373CPS1Uncertain significance886055563RCV000364624; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543777211543777-C0751753 237300 Congenital hyperammonemia, type I;
NM_001875.4(CPS1):c.*1117A>G1373CPS1Uncertain significance886055564RCV000264867; NMedGen:C4082171,OMIM:237300, Orphanet:ORPHA147,SNOMED CT:625220042211543826211543826-C0751753 237300 Congenital hyperammonemia, type I;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000021826 MSeqDR Search EnsemblCPS116196carbamoyl-phosphate synthase 1, mitochondrial [Source:HGNC Symbol;Acc:2323]00085

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