| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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 specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (splice donor variant) | Myelodysplastic syndrome associated with isolated del(5q) | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | EEF1D-related disorder | |
| | | Single nucleotide variant (missense variant) | EEF1D-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | EEF1D-related disorder | |
| | | Duplication (intron variant) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EEF1D-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | EEF1D-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | EEF1D-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EEF1D-related disorder | |
| | | Single nucleotide variant (intron variant) | EEF1D-related disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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 +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Deletion (nonsense) | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Polydactyly | |
| | | Single nucleotide variant (missense variant) | EEF1D-associated Neurodevelopmental Syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | DCAF4L2, DCSTAMP +333 more | Copy number gain | not specified | |
| | | Deletion | Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more | |
| | | Duplication | Holoprosencephaly sequence | |
| | | Single nucleotide variant (missense variant +1 more) | Moyamoya angiopathy | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Variation (no sequence alteration +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | EEF1D-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | EEF1D-related disorder +1 more | |