| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | | Single nucleotide variant (nonsense) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | | Deletion (frameshift variant) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | | Single nucleotide variant (nonsense) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Microcephaly, short stature, and impaired glucose metabolism 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | | Single nucleotide variant (missense variant) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | | Single nucleotide variant (missense variant) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | | Indel (nonsense) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Microcephaly, short stature, and impaired glucose metabolism 1 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene