| | | Single nucleotide variant (intron variant) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (splice acceptor variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Single nucleotide variant (intron variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Single nucleotide variant (intron variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Single nucleotide variant (intron variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Deletion (frameshift variant) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (splice acceptor variant) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Single nucleotide variant (nonsense) | Short stature, microcephaly, and endocrine dysfunction | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Short stature, microcephaly, and endocrine dysfunction +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |