| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | GALT, LOC130001683 (A78V +1 more) | Single nucleotide variant (missense variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | |
| | GALT, LOC130001683 (A81P +1 more) | Single nucleotide variant (missense variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | GPathogenic/Likely pathogenic |
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