| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Duplication | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | BCL2L12, LOC130064935 (F14L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | BCL2L12, LOC130064935 (A42V) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | BCL2L12, LOC130064935 (G43R) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | BCL2L12, LOC130064936 (W77R) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BCL2L12, LOC130064935 (A32V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | BCL2L12, LOC130064935 (Y44N) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | BCL2L12, LOC130064936 (R73T) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BCL2L12, LOC130064935 (R40C) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Developmental and epileptic encephalopathy, 12 | |
| | PPP1R15A, PPP2R1A +308 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064935, BCL2L12 (R18W) | Single nucleotide variant (missense variant +1 more) | Malignant melanoma of skin +1 more | |
| | | Copy number gain | See cases | |
| | LOC130064903, LOC130064904 +1093 more | Copy number gain | See cases | |
| | LOC130064925, LOC130064926 +1081 more | Copy number gain | See cases | |