UBIAD1 — 142 ClinVar variants
All ClinVar germline UBIAD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
8 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 23 Benign · 2 Benign/Likely benign · 5 Likely benign · 98 Uncertain significance
Full UBIAD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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UBIAD1 p.Gln39Arg
Conflicting
Single submitter
Schnyder corneal dystrophy
Predictors lean, ClinVar uncertain 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
UBIAD1 p.Leu251Ile
Uncertain significance
Multiple submitters
Schnyder corneal dystrophy
- UBIAD1 p.Lys20Arg Uncertain significance Multiple submitters
-
UBIAD1 p.Pro64Leu
Uncertain significance
Multiple submitters
Schnyder corneal dystrophy
- UBIAD1 p.Ala88Thr Uncertain significance Single submitter
- UBIAD1 p.Ala93Thr Uncertain significance Single submitter
- UBIAD1 p.Asp130Glu Uncertain significance Single submitter
- UBIAD1 p.Asp25Asn Uncertain significance Single submitter
- UBIAD1 p.Gln34Leu Uncertain significance Single submitter
- UBIAD1 p.Gln44His Uncertain significance Single submitter
- UBIAD1 p.Glu242Gln Uncertain significance Single submitter
-
UBIAD1 p.Gly186Arg
Uncertain significance
Single submitter
Schnyder corneal dystrophy
- UBIAD1 p.Gly28Arg Uncertain significance Single submitter
- UBIAD1 p.His113Arg Uncertain significance Single submitter
- UBIAD1 p.Ile163Thr Uncertain significance Single submitter
- UBIAD1 p.Leu14Arg Uncertain significance Single submitter
- UBIAD1 p.Leu162Pro Uncertain significance Single submitter
- UBIAD1 p.Leu185Val Uncertain significance Single submitter
- UBIAD1 p.Leu260Pro Uncertain significance Single submitter
- UBIAD1 p.Met292Val Uncertain significance Single submitter
- UBIAD1 p.Pro254Arg Uncertain significance Single submitter
- UBIAD1 p.Pro309Leu Uncertain significance Single submitter
- UBIAD1 p.Pro32Ser Uncertain significance Single submitter
-
UBIAD1 p.Pro331Ser
Uncertain significance
Single submitter
UBIAD1-related disorder
- UBIAD1 p.Pro38Ser Uncertain significance Single submitter
- UBIAD1 p.Pro38Thr Uncertain significance Single submitter
- UBIAD1 p.Ser15Leu Uncertain significance Single submitter
- UBIAD1 p.Ser257Phe Uncertain significance Single submitter
- UBIAD1 p.Ser302Asn Uncertain significance Single submitter
- UBIAD1 p.Thr120Ser Uncertain significance Single submitter
-
UBIAD1 p.Thr193Ala
Uncertain significance
Single submitter
Schnyder corneal dystrophy
-
UBIAD1 p.Thr247Ala
Uncertain significance
Single submitter
Schnyder corneal dystrophy
-
UBIAD1 p.Thr247Met
Uncertain significance
Single submitter
Schnyder corneal dystrophy
- UBIAD1 p.Thr255Met Uncertain significance Single submitter
- UBIAD1 p.Tyr105Cys Uncertain significance Single submitter
-
UBIAD1 p.Tyr174Cys
Uncertain significance
Single submitter
corneal dystrophy
- UBIAD1 p.Pro154Ser Uncertain significance No assertion criteria
Predictors split 16
The independent predictors disagree with each other — read with care.
-
UBIAD1 p.Leu100Val
Benign/Likely benign
Multiple submitters
Schnyder corneal dystrophy
- UBIAD1 p.Arg241Trp Uncertain significance Single submitter
- UBIAD1 p.Arg301Gln Uncertain significance Single submitter
- UBIAD1 p.Gly142Ser Uncertain significance Single submitter
-
UBIAD1 p.Gly77Asp
Conflicting
Single submitter
Schnyder corneal dystrophy
- UBIAD1 p.Ile111Thr Uncertain significance Single submitter
- UBIAD1 p.Leu160Phe Uncertain significance Single submitter
- UBIAD1 p.Leu223Phe Uncertain significance Single submitter
- UBIAD1 p.Leu329Val Uncertain significance Single submitter
- UBIAD1 p.Leu83Arg Uncertain significance Single submitter
-
UBIAD1 p.Met200Ile
Uncertain significance
Single submitter
Schnyder corneal dystrophy
-
UBIAD1 p.Phe165Cys
Uncertain significance
Single submitter
Schnyder corneal dystrophy
- UBIAD1 p.Thr193Ser Uncertain significance Single submitter
- UBIAD1 p.Tyr73Cys Uncertain significance Single submitter
- UBIAD1 p.Val91Leu Uncertain significance Single submitter
- UBIAD1 p.Ala227Ser Uncertain significance No assertion criteria
All UBIAD1 variants
Pathogenic 8
- p.Asn102Ser Single submitter Schnyder corneal dystrophy
- p.Thr103Ile Single submitter
- p.Asn232Ser No assertion criteria Schnyder corneal dystrophy
- p.Asp112Gly No assertion criteria Schnyder corneal dystrophy
- p.Asp236Glu No assertion criteria Schnyder corneal dystrophy
- p.Gly177Arg No assertion criteria Schnyder corneal dystrophy
- p.Ser171Pro No assertion criteria Schnyder corneal dystrophy
- p.Thr175Ile No assertion criteria Schnyder corneal dystrophy
Pathogenic/Likely pathogenic 1
- p.Gly177Glu Multiple submitters UBIAD1-related disorder
Likely pathogenic 3
- p.Arg119Gly Single submitter UBIAD1-related disorder
- p.Asp240Asn Single submitter Schnyder corneal dystrophy
- p.Leu121Arg Single submitter Schnyder corneal dystrophy
Conflicting classifications of pathogenicity 2
- p.Gln39Arg Single submitter Schnyder corneal dystrophy ⚠
- p.Gly77Asp Single submitter Schnyder corneal dystrophy ⚠
Benign 23
- c.-47T>G Multiple submitters Schnyder corneal dystrophy
- c.*1060G>A Multiple submitters Schnyder corneal dystrophy
- c.*1304C>T Multiple submitters Schnyder corneal dystrophy
- c.*148A>G Multiple submitters Schnyder corneal dystrophy
- c.*904T>C Multiple submitters Schnyder corneal dystrophy
- p.Cys279= Multiple submitters Schnyder corneal dystrophy
- p.Ser75Phe Multiple submitters Schnyder corneal dystrophy
- p.Thr289= Multiple submitters Schnyder corneal dystrophy
- p.Tyr151Cys Multiple submitters Schnyder corneal dystrophy
- c.-195G>A Single submitter Schnyder corneal dystrophy
- c.*1532C>T Single submitter Schnyder corneal dystrophy
- c.*1564C>T Single submitter Schnyder corneal dystrophy
- c.*1671G>A Single submitter Schnyder corneal dystrophy
- c.*18C>T Single submitter Schnyder corneal dystrophy
- c.*420C>T Single submitter Schnyder corneal dystrophy
- c.*467G>A Single submitter Schnyder corneal dystrophy
- c.*48A>G Single submitter Schnyder corneal dystrophy
- c.*552G>A Single submitter Schnyder corneal dystrophy
- c.*684C>A Single submitter Schnyder corneal dystrophy
- c.*819G>A Single submitter Schnyder corneal dystrophy
- p.Arg124= Single submitter Schnyder corneal dystrophy
- p.Asp117= Single submitter
- p.Thr225= Single submitter
Benign/Likely benign 2
- p.Leu100Val Multiple submitters Schnyder corneal dystrophy ⚠
- p.Tyr139= Multiple submitters Schnyder corneal dystrophy
Likely benign 5
- c.619-20A>G Single submitter
- p.Lys10= Single submitter
- p.Lys20Asn Single submitter Schnyder corneal dystrophy
- p.Thr175= Single submitter
- p.Thr255= Single submitter
Uncertain significance 98
- p.Leu251Ile Multiple submitters Schnyder corneal dystrophy ⚠
- p.Lys20Arg Multiple submitters ⚠
- p.Pro64Leu Multiple submitters Schnyder corneal dystrophy ⚠
- c.-311C>T Single submitter Schnyder corneal dystrophy
- c.-4T>C Single submitter Schnyder corneal dystrophy
- c.-78G>C Single submitter Schnyder corneal dystrophy
- c.*1010C>T Single submitter Schnyder corneal dystrophy
- c.*1167C>T Single submitter Schnyder corneal dystrophy
- c.*1189A>G Single submitter Schnyder corneal dystrophy
- c.*1228A>G Single submitter Schnyder corneal dystrophy
- c.*1265T>A Single submitter Schnyder corneal dystrophy
- c.*1426C>T Single submitter Schnyder corneal dystrophy
- c.*1427T>C Single submitter Schnyder corneal dystrophy
- c.*1459T>A Single submitter Schnyder corneal dystrophy
- c.*1494A>G Single submitter Schnyder corneal dystrophy
- c.*1495T>C Single submitter Schnyder corneal dystrophy
- c.*1506T>C Single submitter Schnyder corneal dystrophy
- c.*1535A>T Single submitter Schnyder corneal dystrophy
- c.*1565G>A Single submitter Schnyder corneal dystrophy
- c.*1570G>A Single submitter Schnyder corneal dystrophy
- c.*1580C>T Single submitter Schnyder corneal dystrophy
- c.*1586C>T Single submitter Schnyder corneal dystrophy
- c.*170T>G Single submitter Schnyder corneal dystrophy
- c.*1719A>G Single submitter Schnyder corneal dystrophy
- c.*1779C>T Single submitter Schnyder corneal dystrophy
- c.*1810del Single submitter
- c.*1811G>C Single submitter Schnyder corneal dystrophy
- c.*1876G>A Single submitter Schnyder corneal dystrophy
- c.*2091G>A Single submitter Schnyder corneal dystrophy
- c.*2115C>G Single submitter Schnyder corneal dystrophy
- c.*2187G>A Single submitter Schnyder corneal dystrophy
- c.*2201C>A Single submitter Schnyder corneal dystrophy
- c.*2213C>T Single submitter Schnyder corneal dystrophy
- c.*234C>T Single submitter Schnyder corneal dystrophy
- c.*239G>A Single submitter Schnyder corneal dystrophy
- c.*295G>A Single submitter Schnyder corneal dystrophy
- c.*519G>A Single submitter Schnyder corneal dystrophy
- c.*531C>A Single submitter Schnyder corneal dystrophy
- c.*612T>C Single submitter Schnyder corneal dystrophy
- c.*619A>G Single submitter Schnyder corneal dystrophy
- c.*675A>G Single submitter Schnyder corneal dystrophy
- c.*709C>T Single submitter Schnyder corneal dystrophy
- c.*847A>T Single submitter Schnyder corneal dystrophy
- c.*94G>A Single submitter Schnyder corneal dystrophy
- c.*990T>C Single submitter Schnyder corneal dystrophy
- c.*997C>T Single submitter Schnyder corneal dystrophy
- p.Ala88Thr Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Arg241Trp Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Asp130Glu Single submitter ⚠
- p.Asp25Asn Single submitter ⚠
- p.Gln34Leu Single submitter ⚠
- p.Gln34Ter Single submitter Schnyder corneal dystrophy
- p.Gln44His Single submitter ⚠
- p.Glu242Gln Single submitter ⚠
- p.Gly142Ser Single submitter ⚠
- p.Gly186Arg Single submitter Schnyder corneal dystrophy ⚠
- p.Gly28Arg Single submitter ⚠
- p.His113Arg Single submitter ⚠
- p.Ile111Thr Single submitter ⚠
- p.Ile163Thr Single submitter ⚠
- p.Ile190Val Single submitter
- p.Ile228Val Single submitter
- p.Leu14Arg Single submitter ⚠
- p.Leu160Phe Single submitter ⚠
- p.Leu162Pro Single submitter ⚠
- p.Leu185Val Single submitter ⚠
- p.Leu223Phe Single submitter ⚠
- p.Leu260Pro Single submitter ⚠
- p.Leu308Met Single submitter
- p.Leu329Val Single submitter ⚠
- p.Leu83Arg Single submitter ⚠
- p.Met200Ile Single submitter Schnyder corneal dystrophy ⚠
- p.Met237Ile Single submitter Schnyder corneal dystrophy
- p.Met292Val Single submitter ⚠
- p.Phe165Cys Single submitter Schnyder corneal dystrophy ⚠
- p.Pro254Arg Single submitter ⚠
- p.Pro309Leu Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro331Ser Single submitter UBIAD1-related disorder ⚠
- p.Pro38Ser Single submitter ⚠
- p.Pro38Thr Single submitter ⚠
- p.Ser15Leu Single submitter ⚠
- p.Ser257Phe Single submitter ⚠
- p.Ser302Asn Single submitter ⚠
- p.Thr120Ser Single submitter ⚠
- p.Thr193Ala Single submitter Schnyder corneal dystrophy ⚠
- p.Thr193Ser Single submitter ⚠
- p.Thr247Ala Single submitter Schnyder corneal dystrophy ⚠
- p.Thr247Met Single submitter Schnyder corneal dystrophy ⚠
- p.Thr255Met Single submitter ⚠
- p.Tyr105Cys Single submitter ⚠
- p.Tyr174Cys Single submitter corneal dystrophy ⚠
- p.Tyr73Cys Single submitter ⚠
- p.Val91Leu Single submitter ⚠
- p.Ala227Ser No assertion criteria ⚠
- p.Pro154Ser No assertion criteria ⚠