| | | 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 | |
| | LOC101929372, SLC25A18 (G41E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (G63C) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (R90W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (R91Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (R100Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (M104I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (G109R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (L126F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (R135C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (V138I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (H140Y) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (S143L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (S157L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (T160I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (R175C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC101929372, SLC25A18 (P195S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (A216T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (A219P) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (A219V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (S220P) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (F221C) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (A222V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (G232V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC101929372, SLC25A18 (A238T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |