Clinically relevant OGA variations

O-GlcNAcase (OGA), encoded by the human OGA (MGEA5) gene, is the enzyme that removes O-GlcNAc modifications. Variants in OGA have been implicated in metabolic and neurodevelopmental disorders. This page compiles clinically relevant single nucleotide variants of OGA, primarily sourced from ClinVar, with complementary information from gnomAD, COSMIC, All of Us, GDC and Ensembl VEP.

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Classification ›

ClinVar classification:

 Pathogenic  Likely pathogenic  Uncertain significance  Likely benign  Benign

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AlphaMissense classification:

 Likely pathogenic  Ambiguous  Likely benign  Benign

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ClinPred classification:

 Likely pathogenic  Ambiguous  Likely benign  Benign

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Classification source:

ClinVar AlphaMissense ClinPred

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Frequency ›

Databases:

All Of Us 🌏 gnomAD 🌐 Alpha freq 👤 all

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Cancer ›

Databases:

COSMIC GDC 🦀 all

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Consequence ›

Variant consequence:

All Missense variant Synonymous variant Stop gained Stop lost Stop retained variant Frameshift variant Start lost Initiator codon variant Splice region variant Splice acceptor variant Splice donor variant Splice donor region variant Splice donor 5th base variant Splice polypyrimidine tract variant Intron variant 5′ UTR variant 3′ UTR variant Upstream gene variant

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Condition ›

ClinVar condition:

All Inborn genetic diseases Intellectual disability Intellectual disability, X-linked 106 OGT-related X-linked syndromic intellectual disability OGT-related disorder not specified

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Patient report:

All OGT-XLID

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All Protein change DNA change mutation database

Select database ClinVar GnomAD COSMIC GDC dbSNP

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