CA5A — 225 ClinVar variants
All ClinVar germline CA5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 11 Conflicting · 10 Benign · 2 Benign/Likely benign · 83 Likely benign · 110 Uncertain significance
Full CA5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CA5A p.Ala149Val
Conflicting
Single submitter
Inborn genetic diseases
-
CA5A p.Asn166Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CA5A p.Ile95Val
Conflicting
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Ser233Pro
Conflicting
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Val172Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CA5A p.Ala149Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Ala208Val
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Gln79Glu
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.His143Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.His158Pro
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Phe14Ser
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Pro30Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Pro50Gln
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Thr223Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Trp96Ser
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Ala208Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Ala210Val
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- CA5A p.Ala231Gly Uncertain significance Single submitter
-
CA5A p.Ala231Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Ala255Thr
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Arg209Gln
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Arg213His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Arg213Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Asn175Asp
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Asn280His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Asp216Asn
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Cys92Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Gln248His
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Gln258His
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Gln70Arg
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- CA5A p.His158Tyr Uncertain significance Single submitter
-
CA5A p.Ile199Phe
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Leu186Val
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Leu259Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Leu270Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Met19Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Met212Ile
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Met28Lys
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Phe106Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Phe129Leu
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- CA5A p.Phe267Leu Uncertain significance Single submitter
-
CA5A p.Pro214Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Pro22Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Pro22Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Pro66Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Ser13Phe
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Ser44Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Thr43Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Trp41Cys
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Val171Ala
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Val172Met
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Val85Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 59
The independent predictors disagree with each other — read with care.
-
CA5A p.Ala261Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Arg26His
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Asp216Ala
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Glu250Gly
Likely benign
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.His205Gln
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Leu259Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Phe215Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Pro222Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Pro82Thr
Likely benign
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Thr192Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Val145Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CA5A p.Val182Met
Uncertain significance
Multiple submitters
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Ala135Val
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Ala170Ser
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Ala294Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Arg209Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Arg213Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Arg263Cys
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Arg263His
Conflicting
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Arg282Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CA5A p.Arg290Gln Uncertain significance Single submitter
-
CA5A p.Arg290Trp
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Arg37Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Arg37His
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Arg63Trp
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Asp108Asn
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Asp198Asn
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Asp226Asn
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Glu138Lys
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Gly140Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Gly271Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Gly61Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Gly61Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.His189Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.His205Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Ile203Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Leu126Val
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Leu15Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Leu186Phe
Conflicting
Single submitter
Inborn genetic diseases
-
CA5A p.Leu2Phe
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Lys206Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Phe131Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Pro201Thr
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Pro217Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Pro222Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Pro237Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Pro237Leu
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Pro55Leu
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Pro78Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Ser242Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Ser91Pro
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- CA5A p.Thr229Ile Uncertain significance Single submitter
-
CA5A p.Thr53Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Thr62Ile
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Trp52Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CA5A p.Tyr100Asn
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- CA5A p.Val145Ala Uncertain significance Single submitter
-
CA5A p.Val58Met
Conflicting
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
-
CA5A p.Val85Phe
Uncertain significance
Single submitter
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
All CA5A variants
Pathogenic 5
- p.Arg32Ter Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser141fs Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Trp159Arg Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Trp228Ter Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.619-3421_774+502del No assertion criteria hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Pathogenic/Likely pathogenic 1
- p.Glu241Lys Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Likely pathogenic 3
- c.459+1G>C Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.618+1G>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Gln194Ter Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Conflicting classifications of pathogenicity 11
- c.767_774+13del Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala149Val Single submitter Inborn genetic diseases ⚠
- p.Arg263His Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Asn166Ser Single submitter Inborn genetic diseases ⚠
- p.Gly181= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ile95Val Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Leu186Phe Single submitter Inborn genetic diseases ⚠
- p.Lys185= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser233Pro Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Val172Leu Single submitter Inborn genetic diseases ⚠
- p.Val58Met Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
Benign 10
- c.143-9T>A Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala269= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Asn45Lys Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Asn46Lys Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Phe215= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro151= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.340+2435T>C Single submitter
- c.460-14C>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.555+12C>G Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.618+1769A>G Single submitter
Benign/Likely benign 2
- c.340+20C>G Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala294= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Likely benign 83
- p.Arg72= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Asp73= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Glu250Gly Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Leu186= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro251= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro82Thr Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ser86= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr219Ala Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Tyr150= Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.142+14C>G Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.143-11T>C Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.143-15TC[5] Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.143-16G>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.143-20C>G Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.143-4G>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.340+16G>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.340+17G>C Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.340+7G>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.459+10C>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.459+11G>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.459+7A>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.555+16G>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.555+19G>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.556-13G>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.618+10A>G Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.618+16G>C Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.619-11C>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.619-7C>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.774+13C>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.774+14G>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.774+7C>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.775-10T>A Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.775-20C>T Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala149= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala170= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala208= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala210= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ala231Val Single submitter Inborn genetic diseases
- p.Ala89= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Arg282= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Asn137= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Asn289= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Asp146= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Glu138= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Glu273= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Gly60Arg Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Gly61= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.His143= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.His148= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ile115= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ile199Val Single submitter Inborn genetic diseases
- p.Leu196= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Leu221= Single submitter
- p.Leu259= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Leu265= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Leu284= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Leu51= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Leu83= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Leu93= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro201= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro237= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro238= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro283= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro55= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser10= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser233= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser242= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser27= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser27Trp Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ser295= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr219= Single submitter
- p.Thr229= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr240= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr244= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr53= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr6= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr9= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Tyr100= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Tyr230= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Val171= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Val85= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- c.618+7T>G No assertion criteria CA5A-related disorder
- c.*10G>A No assertion criteria CA5A-related disorder
Uncertain significance 110
- p.Ala149Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala208Val Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ala261Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg26His Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Asp216Ala Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Gln79Glu Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.His143Asp Multiple submitters Inborn genetic diseases ⚠
- p.His158Pro Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.His205Gln Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Leu259Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe14Ser Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Phe215Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro222Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro30Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro50Gln Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Thr192Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr223Asn Multiple submitters Inborn genetic diseases ⚠
- p.Trp96Ser Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Val145Met Multiple submitters Inborn genetic diseases ⚠
- p.Val182Met Multiple submitters hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- c.340+277G>A Single submitter
- c.340+8191G>A Single submitter
- c.341-7517G>T Single submitter
- c.774+4A>G Single submitter Inborn genetic diseases
- p.Ala135Val Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ala170Ser Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ala208Thr Single submitter Inborn genetic diseases ⚠
- p.Ala210Val Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ala231Gly Single submitter ⚠
- p.Ala231Thr Single submitter Inborn genetic diseases ⚠
- p.Ala255Thr Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ala294Val Single submitter Inborn genetic diseases ⚠
- p.Arg209Gln Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Arg209Trp Single submitter Inborn genetic diseases ⚠
- p.Arg213Cys Single submitter Inborn genetic diseases ⚠
- p.Arg213His Single submitter Inborn genetic diseases ⚠
- p.Arg213Ser Single submitter Inborn genetic diseases ⚠
- p.Arg263Cys Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Arg282Cys Single submitter Inborn genetic diseases ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg290Trp Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Arg37Cys Single submitter Inborn genetic diseases ⚠
- p.Arg37His Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Arg63Trp Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Asn175Asp Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Asn280His Single submitter Inborn genetic diseases ⚠
- p.Asp108Asn Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Asp198Asn Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Asp216Asn Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Asp226Asn Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Cys92Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln248His Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Gln258His Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Gln70Arg Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Glu138Lys Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Gly140Ala Single submitter Inborn genetic diseases ⚠
- p.Gly271Ala Single submitter Inborn genetic diseases ⚠
- p.Gly61Cys Single submitter Inborn genetic diseases ⚠
- p.Gly61Ser Single submitter Inborn genetic diseases ⚠
- p.His158Tyr Single submitter ⚠
- p.His189Tyr Single submitter Inborn genetic diseases ⚠
- p.His205Asp Single submitter Inborn genetic diseases ⚠
- p.His300Arg Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Ile199Phe Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ile203Val Single submitter Inborn genetic diseases ⚠
- p.Leu126Val Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Leu15= Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Leu15Phe Single submitter Inborn genetic diseases ⚠
- p.Leu186Val Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Leu259Pro Single submitter Inborn genetic diseases ⚠
- p.Leu270Pro Single submitter Inborn genetic diseases ⚠
- p.Leu2Phe Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Lys206Glu Single submitter Inborn genetic diseases ⚠
- p.Met19Ile Single submitter Inborn genetic diseases ⚠
- p.Met212Ile Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Met28Lys Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Phe106Ser Single submitter Inborn genetic diseases ⚠
- p.Phe129Leu Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Phe131Leu Single submitter Inborn genetic diseases ⚠
- p.Phe267Leu Single submitter ⚠
- p.Pro201Thr Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Pro214Ala Single submitter Inborn genetic diseases ⚠
- p.Pro217Thr Single submitter Inborn genetic diseases ⚠
- p.Pro222Ala Single submitter Inborn genetic diseases ⚠
- p.Pro22Leu Single submitter Inborn genetic diseases ⚠
- p.Pro22Ser Single submitter Inborn genetic diseases ⚠
- p.Pro237Arg Single submitter Inborn genetic diseases ⚠
- p.Pro237Leu Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Pro283Glu Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Pro55Leu Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Pro66Ser Single submitter Inborn genetic diseases ⚠
- p.Pro78Ala Single submitter Inborn genetic diseases ⚠
- p.Ser13Phe Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ser242Leu Single submitter Inborn genetic diseases ⚠
- p.Ser44Gly Single submitter Inborn genetic diseases ⚠
- p.Ser91Pro Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Ter306Trp Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Thr229Ile Single submitter ⚠
- p.Thr43Ser Single submitter Inborn genetic diseases ⚠
- p.Thr53Met Single submitter Inborn genetic diseases ⚠
- p.Thr62Ile Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Trp245Ter Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- p.Trp41Cys Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Trp52Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr100Asn Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Val145Ala Single submitter ⚠
- p.Val171Ala Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Val172Met Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠
- p.Val85Ile Single submitter Inborn genetic diseases ⚠
- p.Val85Phe Single submitter hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency ⚠