| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Anomalous pulmonary venous return | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066953, LOC130066954 +227 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067011, LOC130067012 +535 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 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 | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | SLC25A18, LOC101929372 (G41E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SLC25A18, LOC101929372 (G63C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (R90W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (R91Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (M104I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (V138I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (H140Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (S143L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SLC25A18, LOC101929372 (S157L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (T160I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (R175C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SLC25A18, LOC101929372 (P195S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (A216T) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (A219P) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | SLC25A18, LOC101929372 (A219V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC101929372, SLC25A18 (F221C) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | 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 loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Immunodeficiency 51 +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | Cat eye syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Cat eye syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Vasculitis due to ADA2 deficiency | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 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 | |
| | C22orf15, C22orf23 +435 more | 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 | |