| | | Single nucleotide variant (missense variant) | not specified | |
| | DPH5, SLC30A7 (P273T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH5, SLC30A7 (D229N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | DPH5, SLC30A7 (G257S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH5, SLC30A7 (M265T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Maple syrup urine disease | |
| | DPH5, SLC30A7 (M263R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH5, SLC30A7 (T236P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH5, SLC30A7 (D229A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | DPH5-related diphthamide-deficiency syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | DPH5-related diphthamide-deficiency syndrome +1 more | |
| | DPH5, SLC30A7 (H260R +1 more) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | GPathogenic/Likely pathogenic |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Deletion | Seizure | |
| | | Copy number gain | Global developmental delay +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | LINC01708, LINC01709 +549 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |