| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | 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 | |
| | DPH5, SLC30A7 (G257S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | DPH5, SLC30A7 (M265T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | 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 (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 |
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