| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |
| | LOC124958010, LOC124958011 +529 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BCL2L2, BCL2L2-PABPN1 (R58Q) | Single nucleotide variant (missense variant) | not specified | |
| | BCL2L2, BCL2L2-PABPN1 (A128S) | Single nucleotide variant (missense variant) | not specified | |
| | BCL2L2, BCL2L2-PABPN1 (A149V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BCL2L2, BCL2L2-PABPN1 (A159S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BCL2L2, BCL2L2-PABPN1 (A159V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BCL2L2, BCL2L2-PABPN1 (R161P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BCL2L2, BCL2L2-PABPN1 (R161H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BCL2L2, BCL2L2-PABPN1 (V186I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | BCL2L2, BCL2L2-PABPN1 +14 more | Deletion | Specific granule deficiency | |
| | | Duplication | Lysinuric protein intolerance +1 more | |
| | | Copy number gain | Seizure | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | BCL2L2, BCL2L2-PABPN1 +6 more | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ARHGEF40, BCL2L2 +152 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |