| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | DAGLA-related condition | |
| | | Single nucleotide variant (intron variant) | DAGLA-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | DAGLA-related condition | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (intron variant) | DAGLA-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | DAGLA-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Autosomal dominant cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Deletion (frameshift variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | See cases | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DAGLA-related condition | |
| | | Single nucleotide variant (missense variant) | DAGLA-related condition | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Attention deficit hyperactivity disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | Hereditary pheochromocytoma-paraganglioma | |
| | | Duplication | Leukocyte adhesion deficiency 3 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |