| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Amelogenesis imperfecta hypomaturation type 2A3 | |
| | | Single nucleotide variant (missense variant +1 more) | Renal tubular acidosis, distal, 4, with hemolytic anemia | |
| | | Single nucleotide variant (missense variant +1 more) | Amelogenesis imperfecta hypomaturation type 2A3 | |
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