Sugi Variant

Sugi Variant/ALOXE3

ALOXE3 — 368 ClinVar variants

All ClinVar germline ALOXE3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →

44 Pathogenic · 3 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 29 Conflicting · 50 Benign · 3 Benign/Likely benign · 53 Likely benign · 160 Uncertain significance

Full ALOXE3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 147

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 3

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

Predictors agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 38

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

All ALOXE3 variants

Pathogenic 44

  • c.680+1G>A Multiple submitters autosomal recessive congenital ichthyosis 3
  • p.Arg211Ter Multiple submitters ALOXE3-related disorder
  • p.Arg234Ter Multiple submitters ALOXE3-related disorder
  • p.Gln544Ter Multiple submitters Ichthyosis and erythrokeratoderma
  • p.Tyr278Ter Multiple submitters autosomal recessive congenital ichthyosis 3
  • c.784+1G>A Single submitter
  • p.Ala360fs Single submitter lamellar ichthyosis
  • p.Ala552fs Single submitter Ichthyosis and erythrokeratoderma
  • p.Arg140Ter Single submitter lamellar ichthyosis
  • p.Gln123Ter Single submitter
  • p.Glu525Ter Single submitter
  • p.Gly528fs Single submitter
  • p.Ile366fs Single submitter
  • p.Leu655fs Single submitter
  • p.Pro12_Tyr13insTer Single submitter autosomal recessive congenital ichthyosis 3
  • p.Ser478fs Single submitter autosomal recessive congenital ichthyosis 3
  • p.Trp394Ter Single submitter
  • p.Tyr102Ter Single submitter autosomal recessive congenital ichthyosis 2
  • p.Tyr443Ter Single submitter
  • c.1305+1_1305+2delinsTA No assertion criteria autosomal recessive congenital ichthyosis 3
  • c.1393-1G>A No assertion criteria autosomal recessive congenital ichthyosis 3
  • c.1786-63_1807del No assertion criteria autosomal recessive congenital ichthyosis 3
  • c.353-1G>C No assertion criteria autosomal recessive congenital ichthyosis 3
  • c.435-?_554+?del No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Arg396Ser No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Asn604Lys No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Asp20fs No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Cys109Ter No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Gln103Pro No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Gln344_Ala347delinsPro No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Gln652Ter No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Glu319= No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Glu91Ter No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Gly281Val No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.His431fs No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Leu427Pro No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Met602fs No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Phe253fs No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Ser398Phe No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Ser646fs No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Trp354Ter No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Trp388Cys No assertion criteria autosomal recessive congenital ichthyosis 3
  • p.Tyr278Cys No assertion criteria autosomal recessive congenital ichthyosis 3 ⚠
  • p.Val500Phe No assertion criteria autosomal recessive congenital ichthyosis 3

Pathogenic/Likely pathogenic 3

  • p.Arg145His Multiple submitters autosomal recessive congenital ichthyosis 3 ⚠
  • p.Arg689Trp Multiple submitters lamellar ichthyosis
  • p.Pro630Leu Multiple submitters ALOXE3-related disorder

Likely pathogenic 26

  • c.1685-2A>G Multiple submitters autosomal recessive congenital ichthyosis 3
  • p.His403Arg Multiple submitters autosomal recessive congenital ichthyosis 2
  • p.Leu318fs Multiple submitters autosomal recessive congenital ichthyosis 3
  • c.1392+2T>A Single submitter
  • c.1563-2A>G Single submitter lamellar ichthyosis
  • c.352+1G>T Single submitter autosomal recessive congenital ichthyosis 3
  • c.434+2T>G Single submitter autosomal recessive congenital ichthyosis 3
  • c.680+2T>A Single submitter ALOXE3-related disorder
  • c.784+1G>T Single submitter
  • c.-178GA[3] Single submitter autosomal recessive congenital ichthyosis 3
  • p.Ala418Ser Single submitter ⚠
  • p.Arg509fs Single submitter autosomal recessive congenital ichthyosis 3
  • p.Arg509Ter Single submitter autosomal recessive congenital ichthyosis 3
  • p.Gln277Arg Single submitter ALOXE3-related disorder
  • p.Gln615Ter Single submitter autosomal recessive congenital ichthyosis 3
  • p.Glu549Ter Single submitter autosomal recessive congenital ichthyosis 3
  • p.Glu661Ter Single submitter lamellar ichthyosis
  • p.Gly373fs Single submitter autosomal recessive congenital ichthyosis 3
  • p.Gly472Ala Single submitter ALOXE3-related disorder
  • p.Leu390fs Single submitter autosomal recessive congenital ichthyosis 3
  • p.Lys79Ter Single submitter autosomal recessive congenital ichthyosis 3
  • p.Pro298fs Single submitter ALOXE3-related disorder
  • p.Ser524Ter Single submitter
  • p.Thr444Arg Single submitter ALOXE3-related disorder
  • p.Trp601Ter Single submitter autosomal recessive congenital ichthyosis 3
  • p.Val89fs Single submitter autosomal recessive congenital ichthyosis 3

Conflicting classifications of pathogenicity 29

  • c.1101+9G>A Single submitter autosomal recessive congenital ichthyosis 3
  • c.1305+12C>G Single submitter autosomal recessive congenital ichthyosis 3
  • c.1559_1562+3dup Single submitter
  • c.1786-2A>G Single submitter autosomal recessive congenital ichthyosis 3
  • c.-295T>C Single submitter autosomal recessive congenital ichthyosis 3
  • p.Ala227Val Single submitter autosomal recessive congenital ichthyosis 3 ⚠
  • p.Ala535Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg133Gly Single submitter autosomal recessive congenital ichthyosis 2 ⚠
  • p.Arg138= Single submitter autosomal recessive congenital ichthyosis 3
  • p.Arg670Trp Single submitter autosomal recessive congenital ichthyosis 3 ⚠
  • p.Arg678His Single submitter Inborn genetic diseases ⚠
  • p.Arg68Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg78Cys Single submitter Inborn genetic diseases ⚠
  • p.Asp158= Single submitter autosomal recessive congenital ichthyosis 3
  • p.Asp327Glu Single submitter ALOXE3-related disorder ⚠
  • p.Cys122Phe Single submitter ⚠
  • p.Gln344Pro Single submitter Ichthyosis and erythrokeratoderma ⚠
  • p.Glu542= Single submitter autosomal recessive congenital ichthyosis 3
  • p.Gly281Asp Single submitter ⚠
  • p.Ile519Val Single submitter autosomal recessive congenital ichthyosis 3 ⚠
  • p.Leu308Pro Single submitter ALOXE3-related disorder ⚠
  • p.Leu339= Single submitter autosomal recessive congenital ichthyosis 3
  • p.Leu455= Single submitter autosomal recessive congenital ichthyosis 3
  • p.Leu501= Single submitter autosomal recessive congenital ichthyosis 3
  • p.Lys514= Single submitter autosomal recessive congenital ichthyosis 3
  • p.Ser478Arg Single submitter autosomal recessive congenital ichthyosis 3 ⚠
  • p.Thr176Met Single submitter Inborn genetic diseases ⚠
  • p.Thr569Asn Single submitter autosomal recessive congenital ichthyosis 3 ⚠
  • p.Thr624Ile Single submitter autosomal recessive congenital ichthyosis 3 ⚠

Benign 50

Benign/Likely benign 3

  • c.1786-10G>A Multiple submitters autosomal recessive congenital ichthyosis 3
  • c.-304G>T Multiple submitters autosomal recessive congenital ichthyosis 3
  • p.Leu237Met Multiple submitters autosomal recessive congenital ichthyosis 3

Likely benign 53

Uncertain significance 160