| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MAPK8IP3, MAPK8IP3-AS1 +88 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (nonsense) | NME3-related condition | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058180, NME3 (E128K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058180, NME3 (P118R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058180, NME3 (S104L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | Tuberous sclerosis 2 | |
| | | Duplication | Idiopathic generalized epilepsy +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Hyperaldosteronism, familial, type IV +1 more | |
| | | Deletion | not provided | |
| | | Duplication | Idiopathic generalized epilepsy +3 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Duplication | Epilepsy +2 more | |
| | | Copy number gain | not provided | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Duplication | Idiopathic generalized epilepsy +1 more | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Inversion | Hereditary cancer-predisposing syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Tuberous sclerosis 2 | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |