Sugi Variant

Sugi Variant/CPS1

CPS1 — 2144 ClinVar variants

All ClinVar germline CPS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 521 flagged for review →

94 Pathogenic · 60 Pathogenic/Likely pathogenic · 236 Likely pathogenic · 102 Conflicting · 119 Benign · 27 Benign/Likely benign · 1010 Likely benign · 496 Uncertain significance

Full CPS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 521

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 52

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 249

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 249

Predictors split 216

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 216

All CPS1 variants

Pathogenic 94

  • c.3558+1G>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1174Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1262Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Arg787Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Arg850His Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg932_Leu933insTer Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Asn716Lys Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Asp1304fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Cys644fs Multiple submitters Inborn genetic diseases
  • p.Gln1046Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Gln478Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Gln810Arg Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Glu455fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Gly510fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1318Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.1164+2T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3666+1G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4101+1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4101+1G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4275-2A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala1102fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala403fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala724del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala724fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala742_Leu743insTer Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1089Leu Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg316Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg638Pro Single submitter
  • p.Arg826fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg850Gly Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Asn199fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Asn229fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Asn649Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Asp1023fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Cys816fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln1103Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln1160Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln1416Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln318Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln320Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln335Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln375Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Gln44Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Gln490Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln916fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu1255Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu1290fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu604fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Glu631Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu832fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu866Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly116fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly401fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly503_Leu504insTer Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly657fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.His1382fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.His659fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Ile1364fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ile183fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1081fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1134fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu878fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1232fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1387Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys328Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys400fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys42fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys9Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Met1312fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Met792fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Phe371fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Pro1163fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Pro464fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Ser1090fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser684Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Thr218fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Thr381_Gly383del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Thr459fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Thr804fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Thr824fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Trp833Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr1044Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr1305Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr212Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr309Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr443Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr590Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr959fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val1073fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val1170del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val409fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.His337Arg No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Lys560fs No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Ser1135Thr No assertion criteria carbamoyl phosphate synthetase I deficiency disease

Pathogenic/Likely pathogenic 60

  • c.1087-1G>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1263+5G>C Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.1549+1G>A Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1549+1G>T Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.1837-8A>G Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.3336+1G>A Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3336+2T>A Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.3337-1G>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3404+1G>A Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.4101+2T>C Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.4404+1G>A Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.4404+3A>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.622-24A>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Ala907fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Arg1228fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1453Trp Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Arg238Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Arg587Cys Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg587His Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Arg638Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg721Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg780His Multiple submitters pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Arg803Gly Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg814Trp Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Arg850Cys Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Asn103_Gly104dup Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Asp442Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Asp642fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Asp914His Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Cys1327Tyr Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Cys644Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Cys648fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Cys761_Glu763delinsTer Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Gln1359Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Gln1367Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Glu1153Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Glu714Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Glu842fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Gly163Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Gly475fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Gly802fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.His243_Leu244insTer Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.His974fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Ile937fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Leu1127Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Leu290fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Lys1120fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Phe1092fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Pro1302fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Pro289fs Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Pro382Leu Multiple submitters pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Ser1203Pro Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Ser396Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Thr544Met Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Trp1397Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Trp940Ter Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr140Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Val1013del Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Val457Gly Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Val533fs Multiple submitters pulmonary hypertension, neonatal, susceptibility to

Likely pathogenic 236

  • c.1165-2A>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1981+1G>C Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.2568+1G>A Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.2830-1G>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.2830-2A>G Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.3141+2T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.4274+2T>C Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.528+2T>C Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • c.622-2A>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.840+1G>T Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Ala438Pro Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1453Gln Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Arg587Leu Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Gln1213Ter Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Gly301Glu Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Gly987Cys Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Leu1363_Ile1366del Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Lys280Asn Multiple submitters pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Met1Ile Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Pro265Leu Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Ser913Leu Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr959Cys Multiple submitters pulmonary hypertension, neonatal, susceptibility to
  • p.Val1187Phe Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1086+1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1086+2T>C Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.1164+1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+1G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-1G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-2A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.127-2A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1359+1G>A Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.1360-1G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-1G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-2A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1707+2T>G Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.1836+2T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1836+2T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1837-2A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-1G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-2A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.236+1G>T Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.236+4A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.237-1175T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.237-2A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+1G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+2T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2392-1G>A Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.2567_2568+35del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2688-1G>A Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.2830-1G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2895+1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2895+2T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+2T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-2A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3481-1G>C Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.3481-2A>G Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.3559-1G>C Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.3559-2A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3559-2A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3666+1del Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.3666+2del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3683_3756+772del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3757-1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3757-1G>C Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.381+2T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3928-4A>G Single submitter
  • c.4002+1G>T Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.4002+2T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4003-1G>C Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.4003-2A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4161+1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4162-2A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4404+1G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.711+1G>A Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.711+1G>T Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.712-1G>T Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.947+1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.948-1G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala1173Pro Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala1378Thr Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Ala334Pro Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala448_Val449insTer Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Ala812Asp Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1089His Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1089Pro Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1259Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Arg1326fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg174Trp Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Arg718Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg803His Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Arg850Pro Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Asn1442fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Asn472fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Asp1123fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Asp654fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Cys1049Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Cys1256Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Cys225fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Cys516fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Cys600fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Cys981Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Cys995Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln154Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln27fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Gln27Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Gln511Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln619Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln670fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Gln700Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln810Pro Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln927Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln92Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Glu1034Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Glu1117Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu114Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Glu1171fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu1221Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu1328fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu255Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Glu455Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu568Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu696Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu797fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu807Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu845fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu909Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu925Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Glu930Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Gly1057Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly1182fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly1204Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly1272fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly436Asp Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly475_Leu476insTer Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly524fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly594fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly79Glu Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Gly911fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly911Glu Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly911Val Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly982Asp Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.His1195Arg Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.His938fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Leu485fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu50Pro Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu592Met Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu609fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu691Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu734Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu827fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu878Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1100Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1107Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1120Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1356Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1425Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys219fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Lys424Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys497Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys575fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys575Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys630_Glu631insTer Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Lys869fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys875Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys905Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys919Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Met792Ile Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Met792Thr Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Phe1032fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Phe1234fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Phe1234Tyr Single submitter
  • p.Phe1275fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Phe1275Ser Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Phe1389_Ala1390delinsSer Single submitter
  • p.Phe971fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Pro1105_Trp1106insTer Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Pro1125Leu Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Pro1265Ser Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser1137fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser1216fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser430fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser444Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser537Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser597Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser673fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser707Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser808fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Ser913Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ser918Pro Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Thr1391Lys Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Thr1443Ala Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Thr471Asn Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Trp1106Arg Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Trp1106Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Trp1315fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Trp1315Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Trp143Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Trp152Ser Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Trp29Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Tyr162Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr483Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr710Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr768Ter Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Tyr852Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr872Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr951Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr959Ter Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr962fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • p.Val1013fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val1170fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val1181fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val1335Met Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val518fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val531fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val584fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val715fs Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Val72fs Single submitter pulmonary hypertension, neonatal, susceptibility to
  • c.126+1G>A No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • c.2193-1G>T No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • c.2391+1G>A No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • c.2392-1G>T No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • c.3141+1G>A No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • c.3558_3558+1dup No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • c.4003-2A>T No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • c.711+1G>C No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Asn1062fs No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Asn267fs No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Asn643Asp No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Cys1126fs No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Ile101fs No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1245His No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Phe73fs No assertion criteria carbamoyl phosphate synthetase I deficiency disease
  • p.Thr1353fs No assertion criteria carbamoyl phosphate synthetase I deficiency disease

Conflicting classifications of pathogenicity 102

  • c.1087-7C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-8A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2192+6A>T Single submitter Inborn genetic diseases
  • c.2688-12A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3481-7G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+7G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.382-10_382-7del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4404+5A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.712-11C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.948-6C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala1199Glu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala1219Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala25Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala262Val Single submitter Inborn genetic diseases ⚠
  • p.Ala347Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala438Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala543Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala640Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala675= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg1001His Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1089Cys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1228Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1317Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1317Trp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1371Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1371Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg233Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg233His Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg523= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Arg682His Single submitter Inborn genetic diseases ⚠
  • p.Arg721Gln Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Arg803Cys Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Arg803Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg826Cys Single submitter Inborn genetic diseases ⚠
  • p.Asn355Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn970Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp1042Ala Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp52Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp572Asn Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp838Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys600Tyr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gln1413Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu1175Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly1050Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly1058= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly1376Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly150Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly17Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly213Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly401Arg Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Gly431Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly78= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gly893Val Single submitter Inborn genetic diseases ⚠
  • p.Gly982Val Single submitter Inborn genetic diseases ⚠
  • p.His243Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile1215Val Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Ile161Val Single submitter Inborn genetic diseases ⚠
  • p.Ile385Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile820Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile851Met Single submitter Inborn genetic diseases ⚠
  • p.Ile937Asn Single submitter Inborn genetic diseases ⚠
  • p.Leu1041= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1096= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1318Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu1351Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu341Val Single submitter Inborn genetic diseases ⚠
  • p.Leu390Arg Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Lys1009Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys1247Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys1387= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Met1209Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Met313Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Met56Arg Single submitter Inborn genetic diseases ⚠
  • p.Met899Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe1151Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe1266Leu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Phe372= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Pro1105Ser Single submitter CPS1-related disorder ⚠
  • p.Pro1411Leu Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Pro1418Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Pro705Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro818= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Pro818Leu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Pro99Leu Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Ser1203Leu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ser759Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Thr1010Met Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Thr1156Ser Single submitter intellectual disability ⚠
  • p.Thr1212Ala Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Thr1391= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Thr1391Met Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Thr252Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr2Met Single submitter Inborn genetic diseases ⚠
  • p.Thr493Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr544Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Thr849Met Single submitter Inborn genetic diseases ⚠
  • p.Thr871Ser Single submitter CPS1-related disorder ⚠
  • p.Thr924Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1158Ile Single submitter Inborn genetic diseases ⚠
  • p.Val41Phe Single submitter Inborn genetic diseases ⚠
  • p.Val567Leu Single submitter Inborn genetic diseases ⚠
  • p.Val637Ala Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠

Benign 119

Benign/Likely benign 27

  • c.1165-5T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1708-5G>A Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3141+15del Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3404+9_3404+10del Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3481-25G>A Multiple submitters
  • c.3481-8C>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.381+17C>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3928-15T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3928-17T>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3928-8del Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.3928-9_3928-8del Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.529-4A>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.712-16T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.-29T>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Ala1119Thr Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Ala479= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Asn472= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Asp1179= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Glu807= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Lys1229Asn Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys400= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Lys875Glu Multiple submitters pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Ser65= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Thr405Asn Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Thr784= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr162= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Val1011= Multiple submitters carbamoyl phosphate synthetase I deficiency disease

Likely benign 1010

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1087-147A>G Multiple submitters
  • c.126+18T>A Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1263+8TG[4] Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.127-13A>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1359+120A>C Multiple submitters
  • c.1359+19T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1550-17_1550-13del Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.236+15T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.2391+20C>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.2830-19T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.2895+136G>A Multiple submitters
  • c.2959+8_2959+14del Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.2960-166A>G Multiple submitters
  • c.3404+151A>G Multiple submitters
  • c.3405-97C>T Multiple submitters
  • c.3666+66T>C Multiple submitters
  • c.3666+7A>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.4003-12A>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.471+14T>C Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.528+9A>G Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.622-78T>C Multiple submitters
  • c.-128G>A Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.-15-338G>T Multiple submitters
  • p.Ala735= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Asp572= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Gln1005= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.His377= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1068= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Leu1434= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Met899Val Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Ser786= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Ser848= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Tyr309= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Val242= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.1086+113C>T Single submitter
  • c.1086+14A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1086+17A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1086+18A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1086+19C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1086+20C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1086+9T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1087-12T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1087-16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1087-20C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1087-9T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1164+13G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1164+16G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1164+20C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1164+9A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-10T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-10T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-13T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-13T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-17G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-18G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-20T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-4C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-6T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+10A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+12A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+13T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+16A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+19G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.126+7C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1263+12G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1263+13del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1263+14C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1263+17A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1263+7A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1263+8T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-10T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-15T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-19T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-4A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-6T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.127-16G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.127-17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.127-20del Single submitter
  • c.127-6C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.127-6C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.127-7T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1359+17C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1359+7G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1359+8A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1359+9A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1360-11G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1360-11G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1360-16C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1360-17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1360-7_1360-6del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1360-8T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1549+11A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-12G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-12G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-12G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-15T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-18T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-20C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-291A>G Single submitter
  • c.1550-4T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-5T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-5T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-6C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1550-9C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1707+11T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1707+11T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1707+15dup Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1707+16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1707+20G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1708-16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1708-18C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1708-5G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1708-6T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1708-7T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1708-7T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1836+11T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1836+13G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1836+14T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1836+15A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1836+16G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1836+8T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1837-13C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1837-14T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1837-20C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1837-4C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1837-9A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+10G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+12A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+14C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+17C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+20G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+7A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+7A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1981+9A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-10G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-12T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-16C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-18T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-19G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-4A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-6A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-7T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1982-9G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2192+10G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2192+11A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2192+20C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2192+7C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2192+8C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2192+9A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-10C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-13C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-14T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-14T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-18T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-4A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-5T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2193-6T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.236+18A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.237-12A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.237-12A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.237-14G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.237-4C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.237-4C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+10del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+11G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+11G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+12_2391+21del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+12G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+12G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+13T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2391+18T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2392-11A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2392-135_2392-133dup Single submitter
  • c.2392-17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2392-19T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2392-20G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2392-20G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2392-9G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2568+18G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2568+21del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2568+7T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2568+8G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2568+9T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-10C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-114A>G Single submitter
  • c.2569-16C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-18C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-18C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-20A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-4G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-6T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2569-7T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+10T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+11G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+14G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+16T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+17C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+19C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+20A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+7C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+9G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+9G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2687+9G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2688-11T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2688-142G>A Single submitter
  • c.2688-16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2688-5C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2688-6T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2829+14C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2829+15C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2829+19T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2829+20C>G Single submitter
  • c.2829+7G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2829+8A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2829+8A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2830-14G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2830-14G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2830-159C>G Single submitter
  • c.2830-19_2830-15del Single submitter
  • c.2830-20T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2830-5T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2830-83T>G Single submitter
  • c.2830-9C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2895+11G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2895+16T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2895+16T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2895+20C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2895+20C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2896-12T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2896-19C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2896-9T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+14T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+16A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+19T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+20G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+9A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+9A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2960-10G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2960-13A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2960-20C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2960-9T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2960-9T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3141+10G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3141+12A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3141+15_3141+16insG Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3141+16del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3141+17A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3141+18G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3142-12T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3142-17G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3142-19T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3142-4C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3142-9A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+10G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+13A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+16A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+16A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+17G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+18T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+18T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+7A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3337-14T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3337-14T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3337-17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3337-18G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3337-8T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3337-9A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3404+10T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3404+18T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3404+7C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3404+8T>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-10C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-13C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-16C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-17T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-19T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-4C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3405-9C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3480+15C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3480+18T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3480+7T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3480+88C>A Single submitter
  • c.3480+9C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3481-11C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3481-12C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3481-4A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+11dup Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+15C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+17C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+18A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+20C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+38C>G Single submitter
  • c.3558+7G>C Single submitter carbamoyl phosphate synthetase I deficiency disease

Uncertain significance 496

Showing the top 300 by review status; the full set is in the sitemap.

  • c.2829+6G>A Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • c.*187C>T Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Ala1065Glu Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala1155Val Multiple submitters pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Ala1180Thr Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala1400Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala467Val Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala949Thr Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1004Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1174Gln Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1228Trp Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg174Gln Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg238Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg419Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg689His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg882Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn196Asp Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn324Lys Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn558Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn674Lys Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp1084Asn Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gln188Arg Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1221Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1334= Multiple submitters carbamoyl phosphate synthetase I deficiency disease
  • p.Glu1340Gly Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu367Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu455Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu676Lys Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly439Arg Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly53Ala Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile101Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1043Met Multiple submitters pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Ile1043Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile632Arg Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile867Thr Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile917Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu839Phe Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu94Arg Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys1070Asn Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys728Glu Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Met829Val Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Phe992Ser Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Pro107Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1411Ser Multiple submitters CPS1-related disorder ⚠
  • p.Pro1418Ala Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Pro370Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro939Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro99Thr Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ser148Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser569Leu Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ser863Phe Multiple submitters CPS1-related disorder ⚠
  • p.Thr1455Ile Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Thr706Ala Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Tyr1491His Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Val753Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val754Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val770Ile Multiple submitters carbamoyl phosphate synthetase I deficiency disease ⚠
  • c.1164+3A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1164+4C>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1164+4C>T Single submitter
  • c.1164+5G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1165-12A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1264-3T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1352_1359+1del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1359+4A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.1707+3A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.236+5G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2829+3A>G Single submitter
  • c.2896-3del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.2959+5A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+4A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3336+5G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3480+3A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3480+5T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3558+8C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3666+4A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3666+6_3666+8del Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.3756+3A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.381+3A>G Single submitter
  • c.3927+4A>G Single submitter
  • c.3927+5C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4003-3C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4102-1G>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4162-3C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.4274+4dup Single submitter
  • c.622-3C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.840+6A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.-4C>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.-76A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*1040C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*1087T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*1117A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*235A>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*274G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*311A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*387C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*424A>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*427C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*5G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*739T>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*747A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*74T>C Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*777A>G Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*808G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*848G>A Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*913G>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • c.*976C>T Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Ala106Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala1104Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1119Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1138Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala1310Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1321Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala1345Gly Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala1349Gly Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala1405Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1499Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala334Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala340Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala403Gly Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala438Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala467Glu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala479Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala577Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala724Pro Single submitter ⚠
  • p.Ala729Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala735Val Single submitter ⚠
  • p.Ala907Glu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ala948Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg1001Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1228Gly Single submitter ⚠
  • p.Arg1262Gln Single submitter pulmonary hypertension, neonatal, susceptibility to ⚠
  • p.Arg1428Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1481Cys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1481Pro Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg1492Gly Single submitter ⚠
  • p.Arg286Cys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg3Met Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg638Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg682Cys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg718Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg775His Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg814Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Arg929Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn141Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn1442Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn297Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn315Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn357Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asn456Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn674Ile Single submitter ⚠
  • p.Asn74Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp1023Glu Single submitter ⚠
  • p.Asp1084His Single submitter ⚠
  • p.Asp1088Asn Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp1123Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp1184Glu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp1205Asn Single submitter ⚠
  • p.Asp1320Val Single submitter ⚠
  • p.Asp1458Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp208Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp358His Single submitter ⚠
  • p.Asp52Gly Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp546Glu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Asp639Val Single submitter Inborn genetic diseases ⚠
  • p.Asp654Val Single submitter ⚠
  • p.Asp838His Single submitter Inborn genetic diseases ⚠
  • p.Cys225Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys711Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gln1046Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln1059Arg Single submitter ⚠
  • p.Gln1160Pro Single submitter ⚠
  • p.Gln1367= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Gln1468Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln1493Pro Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gln198Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln276His Single submitter Inborn genetic diseases ⚠
  • p.Gln318Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gln437His Single submitter Inborn genetic diseases ⚠
  • p.Gln678Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1034Gly Single submitter ⚠
  • p.Glu1038Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1098Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1147Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1175Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1197Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1286Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu1340Lys Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu528Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu528Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu651Lys Single submitter ⚠
  • p.Glu797Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Glu902Gly Single submitter Inborn genetic diseases ⚠
  • p.Gly1051Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly1058Ala Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly1077Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly116Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly116Glu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly1238Val Single submitter ⚠
  • p.Gly1248Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly130Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly1361Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly1361Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly1365Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly1460Val Single submitter Inborn genetic diseases ⚠
  • p.Gly226Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly258Ala Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly258Glu Single submitter ⚠
  • p.Gly266Arg Single submitter ⚠
  • p.Gly305Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly338Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly35Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly383Trp Single submitter ⚠
  • p.Gly432Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly432Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly507Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly507Val Single submitter Inborn genetic diseases ⚠
  • p.Gly530Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly530Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly594Val Single submitter Neonatal encephalopathy ⚠
  • p.Gly657Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly661Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly695Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly731Asp Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly756Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly783Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly911Arg Single submitter ⚠
  • p.Gly922Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Gly982Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.His1045Tyr Single submitter ⚠
  • p.His1190Tyr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.His1292Arg Single submitter Inborn genetic diseases ⚠
  • p.His1292Tyr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.His1343_Thr1344delinsPro Single submitter Inborn genetic diseases
  • p.His1490Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.His782Pro Single submitter Inborn genetic diseases ⚠
  • p.His974Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.His974Asp Single submitter Inborn genetic diseases ⚠
  • p.Ile101Met Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile101Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile1054Met Single submitter ⚠
  • p.Ile1091Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile1192Met Single submitter ⚠
  • p.Ile1230Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile1236Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1254Thr Single submitter ⚠
  • p.Ile1254Val Single submitter ⚠
  • p.Ile1284Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile1364Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile1461Asn Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile183Met Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile275Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile299Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile332Phe Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile466Val Single submitter Inborn genetic diseases ⚠
  • p.Ile487Val Single submitter Inborn genetic diseases ⚠
  • p.Ile496Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile557Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile557Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile570Val Single submitter Inborn genetic diseases ⚠
  • p.Ile712Val Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile745Leu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile801Val Single submitter Inborn genetic diseases ⚠
  • p.Ile820Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile858Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Ile944Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu1003Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1112Ser Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu115Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu117Phe Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu1208Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu1208Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1210Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu1271Pro Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu1296Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu1318Met Single submitter ⚠
  • p.Leu1398Val Single submitter ⚠
  • p.Leu1463Pro Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu1472Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu1488Pro Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu302Met Single submitter Inborn genetic diseases ⚠
  • p.Leu38Phe Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu574Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu621Pro Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu734Met Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Leu747Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu843Ser Single submitter ⚠
  • p.Leu885Ser Single submitter Inborn genetic diseases ⚠
  • p.Lys1168Ile Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys138Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys138Gln Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys1425Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys1425Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys1471Ile Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys1486Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys176= Single submitter carbamoyl phosphate synthetase I deficiency disease
  • p.Lys219Glu Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys228Thr Single submitter Inborn genetic diseases ⚠
  • p.Lys399Arg Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠
  • p.Lys400Thr Single submitter carbamoyl phosphate synthetase I deficiency disease ⚠