| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126861213, SLC43A3 (V112M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861213, SLC43A3 (R107Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861213, SLC43A3 (S32A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861213, SLC43A3 (H9L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861213, SLC43A3 (I104F +1 more) | Single nucleotide variant (missense variant) | not specified | |
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