| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000722, LOC130000723 +470 more | Copy number gain | See cases | |
| | ARFGEF1, ARFGEF1-DT +245 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LACTB2, LACTB2-AS1 +4 more | Copy number loss | See cases | |
| | LACTB2-AS1, LACTB2 (R220Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LACTB2, LACTB2-AS1 (I219T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LACTB2-AS1, LACTB2 (K191Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LACTB2-AS1, LACTB2 (G144S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LACTB2-AS1, LACTB2 (I114V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |