| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
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