| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130003075, UAP1L1 (H61Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130003075, UAP1L1 (P75A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130003075, UAP1L1 (P76R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130003075, UAP1L1 (E77K) | Single nucleotide variant (missense variant) | not specified | |
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