| 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 +1 more | |
Click to view in NCBI Gene