| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Palmoplantar keratoderma, punctate type 1A | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | AAGAB, LOC130057363 (Q21*) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
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