| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (intron variant) | 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 | |
| | | 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 | |
| | | Single nucleotide variant (synonymous 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (nonsense +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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | IGFALS-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | IGFALS-related disorder +2 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | 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) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | IGFALS-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | IGFALS-related disorder +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) | IGFALS-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | IGFALS-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | IGFALS-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | IGFALS-related disorder +2 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 | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |
| | | Duplication (inframe_insertion +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 | |
| | | Deletion (frameshift variant +1 more) | Short stature due to primary acid-labile subunit deficiency | |