| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | JKAMP, L3HYPDH (P7R +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | JKAMP, L3HYPDH (L12R +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | JKAMP, L3HYPDH (Y70N +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | JKAMP, L3HYPDH (S85Y +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | JKAMP, L3HYPDH (I92T +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | JKAMP, L3HYPDH (R118H +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | JKAMP, L3HYPDH (V165A +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | JKAMP, L3HYPDH (V141M +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | JKAMP, L3HYPDH (A216T +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | JKAMP, L3HYPDH (I175T +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | JKAMP, L3HYPDH (E313K +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | JKAMP, L3HYPDH (G315A +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | JKAMP, L3HYPDH (N323S +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | 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 | 14q22.2q24.3 duplication | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |