| | | Single nucleotide variant (missense variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Duplication (frameshift variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Duplication (frameshift variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Duplication (frameshift variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Duplication (frameshift variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (intron variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Microsatellite (frameshift variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Microsatellite (inframe_deletion +1 more) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay +1 more | |
| | | Deletion (frameshift variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Deletion (frameshift variant) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Single nucleotide variant (nonsense +1 more) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |
| | | Microsatellite (frameshift variant +1 more) | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | |