Sugi Variant

Sugi Variant/OTC

OTC — 948 ClinVar variants

All ClinVar germline OTC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →

302 Pathogenic · 20 Pathogenic/Likely pathogenic · 108 Likely pathogenic · 49 Conflicting · 41 Benign · 18 Benign/Likely benign · 220 Likely benign · 190 Uncertain significance

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

⚑ Evidence disagreements 261

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 30

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

Predictors agree, ClinVar conflicts 27

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 109

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 93

The independent predictors disagree with each other — read with care.

All OTC variants

Pathogenic 302

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

Pathogenic/Likely pathogenic 20

  • p.Arg26Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg330Gly Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Arg40Cys Multiple submitters OTC-related disorder ⚠
  • p.Arg40His Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asn199Ser Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Cys303Gly Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gly197Arg Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ile53Thr Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu139Ser Multiple submitters Likely inborn error of metabolism
  • p.Leu301Phe Multiple submitters Inborn genetic diseases
  • p.Lys221Asn Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Met205Thr Multiple submitters OTC-related disorder
  • p.Met206Arg Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Met206Ile Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Met268Thr Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Pro158Leu Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Pro169Leu Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ser207Arg Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ser340Phe Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Ser81Pro Multiple submitters ornithine carbamoyltransferase deficiency

Likely pathogenic 108

  • c.299-1G>A Multiple submitters ornithine carbamoyltransferase deficiency
  • c.867+1126A>G Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ala233Val Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asp263Gly Multiple submitters OTC-related disorder
  • p.Glu122Gly Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Glu239= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gly188Arg Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gly39Val Multiple submitters OTC-related disorder
  • p.Ile159Met Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Lys210Glu Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Met206Lys Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Pro225Ser Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Trp193Arg Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • c.1005+1G>T Single submitter ornithine carbamoyltransferase deficiency
  • c.1006-2A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.299-2A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.386+7663T>G Single submitter granulomatous disease, chronic, X-linked
  • c.77+2dup Single submitter ornithine carbamoyltransferase deficiency
  • c.77+5G>C Single submitter ornithine carbamoyltransferase deficiency
  • c.78-1G>T Single submitter ornithine carbamoyltransferase deficiency
  • c.867+1G>T Single submitter
  • c.868-2A>T Single submitter
  • p.Ala135Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala140fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala140Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala237fs Single submitter
  • p.Ala253Glu Single submitter ornithine carbamoyltransferase deficiency
  • p.Arg141Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Arg26Leu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Arg277Leu Single submitter ornithine carbamoyltransferase deficiency
  • p.Arg40Leu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Arg89fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp126Asn Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp136Gly Single submitter OTC-related disorder
  • p.Asp175His Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp175Tyr Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp196Glu Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp196Tyr Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp41Gly Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln171His Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln180Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln282fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln29Ter Single submitter ornithine carbamoyltransferase deficiency
  • p.Glu122fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Glu181Lys Single submitter ornithine carbamoyltransferase deficiency
  • p.Glu239Asp Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Glu272Ter Single submitter ornithine carbamoyltransferase deficiency
  • p.Glu273del Single submitter ornithine carbamoyltransferase deficiency
  • p.Glu52Asp Single submitter ⚠
  • p.Gly162Val Single submitter ornithine carbamoyltransferase deficiency
  • p.Gly17fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Gly188Ala Single submitter ornithine carbamoyltransferase deficiency
  • p.Gly188Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly188Val Single submitter ornithine carbamoyltransferase deficiency
  • p.Gly79Glu Single submitter ornithine carbamoyltransferase deficiency
  • p.His117Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.His168Tyr Single submitter ornithine carbamoyltransferase deficiency
  • p.His202Asp Single submitter ornithine carbamoyltransferase deficiency
  • p.His214Tyr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.His302Asp Single submitter ornithine carbamoyltransferase deficiency
  • p.Ile160Met Single submitter ornithine carbamoyltransferase deficiency
  • p.Ile160Phe Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu148Ser Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu163Gln Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu186Pro Single submitter OTC-related disorder
  • p.Leu201Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu244Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu278_Met288delinsPro Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu304Ter Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu45Arg Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys210Ile Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys210Thr Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys276Ter Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys289fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys70Ter Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys88Ter Single submitter ornithine carbamoyltransferase deficiency
  • p.Met1Val Single submitter ornithine carbamoyltransferase deficiency
  • p.Met205Ile Single submitter ⚠
  • p.Met205Lys Single submitter ornithine carbamoyltransferase deficiency
  • p.Met268Lys Single submitter ornithine carbamoyltransferase deficiency
  • p.Met288fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Met56Thr Single submitter ⚠
  • p.Phe48fs Single submitter
  • p.Pro220Leu Single submitter
  • p.Pro225Gln Single submitter ornithine carbamoyltransferase deficiency
  • p.Pro225Thr Single submitter OTC-related disorder
  • p.Pro347Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser164Leu Single submitter ornithine carbamoyltransferase deficiency
  • p.Ser203Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Ser318Phe Single submitter
  • p.Ser321Leu Single submitter
  • p.Ser321Pro Single submitter ornithine carbamoyltransferase deficiency
  • p.Ser60Ter Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr262Ile Single submitter
  • p.Thr343Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr93Arg Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr93Ile Single submitter OTC-related disorder
  • p.Tyr345Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Val142fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Val315Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Val315Leu Single submitter ornithine carbamoyltransferase deficiency
  • p.Val315Phe Single submitter ornithine carbamoyltransferase deficiency
  • p.Val337Leu Single submitter
  • p.Val339Met Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asn329Lys No assertion criteria ornithine carbamoyltransferase deficiency
  • p.Cys27Ter No assertion criteria ornithine carbamoyltransferase deficiency
  • p.Ile85Thr No assertion criteria ornithine carbamoyltransferase deficiency
  • p.Phe324fs No assertion criteria ornithine carbamoyltransferase deficiency

Conflicting classifications of pathogenicity 49

  • c.1005+11A>T Single submitter Global developmental delay
  • c.298+2T>C Single submitter ornithine carbamoyltransferase deficiency ⚠
  • c.717+5G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.-4G>A Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala140Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ala208Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Arg129= Single submitter ornithine carbamoyltransferase deficiency
  • p.Arg23Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg26= Single submitter Inborn genetic diseases
  • p.Asn47Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn4Asp Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp126Glu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp165Gly Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln270Glu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln29Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu314Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu98Lys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly162Ala Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly241Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly39Asp Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly50Ala Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.His255Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ile194Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu166Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu179Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu246Val Single submitter Inborn genetic diseases ⚠
  • p.Leu57= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu76Phe Single submitter ⚠
  • p.Lys289= Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys307Glu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met206Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met268Ile Single submitter Inborn genetic diseases ⚠
  • p.Met288Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe281Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Phe354Cys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Pro30Gln Single submitter Inborn genetic diseases ⚠
  • p.Ser203Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser96Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ter355Gly Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr127Met Single submitter Inborn genetic diseases ⚠
  • p.Thr150Asn Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr150Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr219Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr290= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr299Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr343Ala Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr343Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Tyr345His Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Val311Met Single submitter ornithine carbamoyltransferase deficiency ⚠

Benign 41

Benign/Likely benign 18

  • c.1006-14T>C Multiple submitters ornithine carbamoyltransferase deficiency
  • c.298+5G>C Multiple submitters ornithine carbamoyltransferase deficiency
  • c.299-18C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • c.299-34dup Multiple submitters
  • c.299-7dup Multiple submitters ornithine carbamoyltransferase deficiency
  • c.299-8del Multiple submitters ornithine carbamoyltransferase deficiency
  • c.299-8dup Multiple submitters ornithine carbamoyltransferase deficiency
  • c.541-11G>A Multiple submitters ornithine carbamoyltransferase deficiency
  • c.717+11T>C Multiple submitters ornithine carbamoyltransferase deficiency
  • c.718-18C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • c.-366A>G Multiple submitters ornithine carbamoyltransferase deficiency
  • c.-48G>T Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gln270Arg Multiple submitters Inborn genetic diseases
  • p.Ile194= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu251= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ser207= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Thr49= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Tyr143= Multiple submitters Inborn genetic diseases

Likely benign 220

  • c.1005+12A>G Multiple submitters ornithine carbamoyltransferase deficiency
  • c.216+8A>G Multiple submitters ornithine carbamoyltransferase deficiency
  • c.216+9C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • c.217-13C>G Multiple submitters ornithine carbamoyltransferase deficiency
  • c.217-15G>A Multiple submitters ornithine carbamoyltransferase deficiency
  • c.217-5TA[4] Multiple submitters ornithine carbamoyltransferase deficiency
  • c.299-5T>C Multiple submitters ornithine carbamoyltransferase deficiency
  • c.540+106A>G Multiple submitters
  • c.541-12C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • c.541-8C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • c.664-13C>A Multiple submitters ornithine carbamoyltransferase deficiency
  • c.664-8T>C Multiple submitters ornithine carbamoyltransferase deficiency
  • c.717+15T>C Multiple submitters ornithine carbamoyltransferase deficiency
  • c.867+1136C>A Multiple submitters ornithine carbamoyltransferase deficiency
  • c.868-13C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • c.868-14C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ala233= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ala254= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ala280= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Arg330= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Arg66= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Asn161= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Asn329= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Asp263= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Glu224= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gly119= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gly195= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gly197= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Gly212= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.His214= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.His302= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu118= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu124= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu163= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu244= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu82= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Leu95= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Lys38= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Lys70= Multiple submitters Inborn genetic diseases
  • p.Pro225= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ser132= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ser203= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ser321= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ser90= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Thr178= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Tyr176= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Tyr284= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Val120= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Val130= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Val142= Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Val22= Multiple submitters ornithine carbamoyltransferase deficiency
  • c.1006-10G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.1006-13G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.1006-19T>G Single submitter ornithine carbamoyltransferase deficiency
  • c.1006-235C>A Single submitter
  • c.1006-6C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.216+15C>A Single submitter ornithine carbamoyltransferase deficiency
  • c.216+15C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.216+19T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.217-14T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.217-15G>C Single submitter ornithine carbamoyltransferase deficiency
  • c.217-265dup Single submitter
  • c.217-4A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.298+14C>G Single submitter ornithine carbamoyltransferase deficiency
  • c.298+18T>A Single submitter ornithine carbamoyltransferase deficiency
  • c.298+8C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.298+9A>G Single submitter
  • c.299-11T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.299-147T>G Single submitter
  • c.299-16T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.299-17T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.299-18del Single submitter ornithine carbamoyltransferase deficiency
  • c.299-4G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.299-7A>T Single submitter ornithine carbamoyltransferase deficiency
  • c.386+10T>A Single submitter ornithine carbamoyltransferase deficiency
  • c.386+9del Single submitter ornithine carbamoyltransferase deficiency
  • c.387-11G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.387-18T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.387-19T>G Single submitter ornithine carbamoyltransferase deficiency
  • c.387-3C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.387-5C>A Single submitter ornithine carbamoyltransferase deficiency
  • c.540+10T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.540+16del Single submitter ornithine carbamoyltransferase deficiency
  • c.540+17G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.540+17G>T Single submitter ornithine carbamoyltransferase deficiency
  • c.540+264C>T Single submitter
  • c.540+296G>C Single submitter ornithine carbamoyltransferase deficiency
  • c.541-10T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.541-14C>A Single submitter ornithine carbamoyltransferase deficiency
  • c.541-14C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.541-19_541-17del Single submitter ornithine carbamoyltransferase deficiency
  • c.541-214G>A Single submitter
  • c.541-9G>T Single submitter ornithine carbamoyltransferase deficiency
  • c.663+13T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.663+7_663+10delinsTGCA Single submitter ornithine carbamoyltransferase deficiency
  • c.663+7A>C Single submitter ornithine carbamoyltransferase deficiency
  • c.663+7A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.663+9A>T Single submitter ornithine carbamoyltransferase deficiency
  • c.664-9C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.717+13C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.717+17T>A Single submitter ornithine carbamoyltransferase deficiency
  • c.717+20A>C Single submitter ornithine carbamoyltransferase deficiency
  • c.717+20A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.717+8C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.718-11A>C Single submitter ornithine carbamoyltransferase deficiency
  • c.718-17G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.718-18C>A Single submitter ornithine carbamoyltransferase deficiency
  • c.718-4C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.718-7A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.77+11G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.77+20T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.77+7G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.77+8A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.77+9T>A Single submitter
  • c.78-102_78-99del Single submitter
  • c.78-10C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.78-12C>A Single submitter ornithine carbamoyltransferase deficiency
  • c.78-13T>A Single submitter ornithine carbamoyltransferase deficiency
  • c.78-208C>T Single submitter
  • c.78-3C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.78-5T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.78-5T>G Single submitter ornithine carbamoyltransferase deficiency
  • c.867+1061G>T Single submitter
  • c.867+1126A>C Single submitter ornithine carbamoyltransferase deficiency
  • c.867+18T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.867+19C>T Single submitter ornithine carbamoyltransferase deficiency
  • c.867+8T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.867+9T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.868-10A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.868-10A>T Single submitter ornithine carbamoyltransferase deficiency
  • c.868-126G>A Single submitter
  • c.868-13C>A Single submitter ornithine carbamoyltransferase deficiency
  • c.868-177A>T Single submitter
  • c.868-183_868-182dup Single submitter
  • c.868-184_868-182dup Single submitter
  • c.868-8C>T Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala102= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala135Thr Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala155= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala174= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala209= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala227= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala295= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala336= Single submitter ornithine carbamoyltransferase deficiency
  • p.Arg141= Single submitter ornithine carbamoyltransferase deficiency
  • p.Arg277= Single submitter ornithine carbamoyltransferase deficiency
  • p.Asn10= Single submitter ornithine carbamoyltransferase deficiency
  • p.Asn11= Single submitter ornithine carbamoyltransferase deficiency
  • p.Asn199= Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp115= Single submitter ornithine carbamoyltransferase deficiency
  • p.Asp147= Single submitter ornithine carbamoyltransferase deficiency
  • p.Cys27= Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln145= Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln270= Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln282= Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln29= Single submitter
  • p.Glu271= Single submitter ornithine carbamoyltransferase deficiency
  • p.Glu273= Single submitter ornithine carbamoyltransferase deficiency
  • p.Glu72= Single submitter ornithine carbamoyltransferase deficiency
  • p.Gly212Arg Single submitter ornithine carbamoyltransferase deficiency
  • p.Gly222Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly50Arg Single submitter ornithine carbamoyltransferase deficiency
  • p.His18= Single submitter ornithine carbamoyltransferase deficiency
  • p.His182= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ile116= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ile160= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ile170= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ile172= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ile334= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu139= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu177= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu179= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu186= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu189= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu2= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu201= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu232= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu246= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu304= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu31= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu341= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu77= Single submitter ornithine carbamoyltransferase deficiency
  • p.Leu9= Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys153= Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys243= Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys274= Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys276_Arg277= Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys34= Single submitter ornithine carbamoyltransferase deficiency
  • p.Lys54= Single submitter ornithine carbamoyltransferase deficiency
  • p.Met21Val Single submitter ornithine carbamoyltransferase deficiency
  • p.Met338Leu Single submitter ornithine carbamoyltransferase deficiency
  • p.Phe101= Single submitter ornithine carbamoyltransferase deficiency
  • p.Phe211= Single submitter ornithine carbamoyltransferase deficiency
  • p.Phe324= Single submitter ornithine carbamoyltransferase deficiency
  • p.Phe48= Single submitter ornithine carbamoyltransferase deficiency
  • p.Phe65= Single submitter ornithine carbamoyltransferase deficiency
  • p.Pro158= Single submitter ornithine carbamoyltransferase deficiency
  • p.Pro305= Single submitter ornithine carbamoyltransferase deficiency
  • p.Pro325= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ser156= Single submitter
  • p.Ser340= Single submitter ornithine carbamoyltransferase deficiency
  • p.Ser81= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr125= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr127= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr150= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr150Ala Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr190= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr242= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr299= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr333= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr44= Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr97= Single submitter ornithine carbamoyltransferase deficiency
  • p.Tyr167= Single submitter ornithine carbamoyltransferase deficiency
  • p.Tyr236= Single submitter ornithine carbamoyltransferase deficiency
  • p.Tyr317= Single submitter ornithine carbamoyltransferase deficiency
  • p.Val259= Single submitter ornithine carbamoyltransferase deficiency
  • p.Val311= Single submitter ornithine carbamoyltransferase deficiency
  • p.Val315= Single submitter ornithine carbamoyltransferase deficiency
  • p.Val35= Single submitter ornithine carbamoyltransferase deficiency
  • p.Gln36= No assertion criteria ornithine carbamoyltransferase deficiency

Uncertain significance 190

  • c.1005+5G>A Multiple submitters ornithine carbamoyltransferase deficiency
  • c.*105C>T Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ala137Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala174Thr Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Ala209Gly Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Ala217Gly Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Ala254Val Multiple submitters ornithine carbamoyltransferase deficiency
  • p.Arg129Cys Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Arg26Trp Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Arg320Gln Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Arg66Lys Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Arg89Gly Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asn258Ser Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asn47His Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asn4His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp115Gly Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asp147Val Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asp165His Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asp226Ala Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Asp297Asn Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Gln348Arg Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Glu234Gly Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Glu239Gln Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Glu272Lys Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Gly283Arg Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Gly28Glu Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.His214Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Ile159Val Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Leu104Gln Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Leu177Phe Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Leu342Met Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Leu43Ile Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Lys238Arg Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Lys292Glu Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Met21Thr Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Pro30Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro319del Multiple submitters Inborn genetic diseases
  • p.Pro325Leu Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Ser123Asn Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Ser81Phe Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Thr125Met Multiple submitters Hyperammonemia ⚠
  • p.Thr219Ile Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Thr230Ile Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Thr242Asn Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Thr91Ile Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • p.Thr97Ala Multiple submitters ornithine carbamoyltransferase deficiency ⚠
  • c.216+10A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.216+5G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.216+6T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.298+2dup Single submitter ornithine carbamoyltransferase deficiency
  • c.298+3_298+6del Single submitter ornithine carbamoyltransferase deficiency
  • c.298+5G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.386+9A>G Single submitter ornithine carbamoyltransferase deficiency
  • c.540+5G>C Single submitter ornithine carbamoyltransferase deficiency
  • c.540+6T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.541-12C>A Single submitter ornithine carbamoyltransferase deficiency
  • c.77+5G>A Single submitter ornithine carbamoyltransferase deficiency
  • c.868-3T>C Single submitter
  • c.-2A>T Single submitter ornithine carbamoyltransferase deficiency
  • c.-5A>C Single submitter ornithine carbamoyltransferase deficiency
  • c.*175T>C Single submitter ornithine carbamoyltransferase deficiency
  • c.*276A>G Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala128Pro Single submitter ⚠
  • p.Ala135Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ala152Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ala155Glu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ala174_Asp175insIle Single submitter ornithine carbamoyltransferase deficiency
  • p.Ala295fs Single submitter ornithine carbamoyltransferase deficiency
  • p.Arg306Gly Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Arg320= Single submitter
  • p.Arg6Lys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Arg89del Single submitter ornithine carbamoyltransferase deficiency
  • p.Asn11Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asn121Lys Single submitter ⚠
  • p.Asn121Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asn258Lys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asn4Lys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp126Gly Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp147His Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp149His Single submitter Inborn genetic diseases ⚠
  • p.Asp175Asn Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp297Ala Single submitter ⚠
  • p.Asp297Gly Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp297Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp344His Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp344Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Asp41Asn Single submitter ⚠
  • p.Asp41Val Single submitter ⚠
  • p.Cys27Arg Single submitter ⚠
  • p.Cys303Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln145Lys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln171Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln180Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln282Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln285His Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gln36Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu224Gln Single submitter ⚠
  • p.Glu252Asp Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Glu252Gln Single submitter ⚠
  • p.Glu271Gln Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Glu273Lys Single submitter ⚠
  • p.Glu273Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Glu326Lys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly119Cys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly188Asp Single submitter ⚠
  • p.Gly283Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Gly28Arg Single submitter ⚠
  • p.His18Asn Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.His18Gln Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.His214Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ile157Thr Single submitter ⚠
  • p.Ile200Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ile266Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ile334Met Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ile85Leu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ile85Met Single submitter ⚠
  • p.Leu103Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu103Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu124Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu151Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu151Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu151Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu166Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu177Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu177Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu191Arg Single submitter ⚠
  • p.Leu191Val Single submitter ⚠
  • p.Leu232_Gln235del Single submitter OTC-related disorder
  • p.Leu31Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu31Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu342Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu42His Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu57Val Single submitter ⚠
  • p.Leu63Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu76Ser Single submitter ⚠
  • p.Leu95Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Leu9Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Lys153Glu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Lys221Arg Single submitter ⚠
  • p.Lys351Gln Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Lys54Glu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Lys64Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Lys70Glu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met134Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met134Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met205Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met288Val Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met335Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Met335Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Phe324Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Pro108Ala Single submitter ⚠
  • p.Pro108Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Pro158Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Pro225Ala Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Pro319Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Pro347Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Pro75Thr Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser123Arg Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser146Leu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser164Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser185Cys Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser228Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser228Gly Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser267Asn Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser267Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ser96Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Ter355Cys Single submitter ornithine carbamoyltransferase deficiency
  • p.Thr112Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr230Asn Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr247Ala Single submitter ⚠
  • p.Thr262Ala Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr264Ile Single submitter ⚠
  • p.Thr299Ala Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr343Lys Single submitter ⚠
  • p.Thr49Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr49Pro Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Thr49Ser Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Trp265Arg Single submitter OTC-related disorder ⚠
  • p.Tyr73Cys Single submitter ⚠
  • p.Val142Gly Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Val337Ile Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Val337Phe Single submitter ornithine carbamoyltransferase deficiency ⚠
  • p.Val339Leu Single submitter ornithine carbamoyltransferase deficiency ⚠
  • c.298+10C>A No assertion criteria ornithine carbamoyltransferase deficiency
  • c.298+6T>C No assertion criteria ornithine carbamoyltransferase deficiency
  • p.Arg66Met No assertion criteria ornithine carbamoyltransferase deficiency ⚠
  • p.Ile116Val No assertion criteria ornithine carbamoyltransferase deficiency ⚠
  • p.Leu251Ser No assertion criteria ornithine carbamoyltransferase deficiency ⚠
  • p.Lys276Asn No assertion criteria ornithine carbamoyltransferase deficiency ⚠
  • p.Phe65Leu No assertion criteria ornithine carbamoyltransferase deficiency