| | LOC130064390, LOC130064391 +2135 more | Copy number gain | See cases | |
| | LOC130064186, LOC130064187 +459 more | Copy number loss | See cases | |
| | LOC130064234, LOC130064235 +439 more | Copy number loss | See cases | |
| | THAP8, LOC101927572 (T226A +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC101927572, THAP8 (I206L +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC101927572, THAP8 (S235F +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC101927572, THAP8 (R175C +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | THAP8, LOC101927572 (R140Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC101927572, THAP8 (A154V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | THAP8, LOC101927572 (S137L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC101927572, THAP8 (R129H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC101927572, THAP8 (T71I +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | THAP8, LOC101927572 (R34W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | THAP8, LOC101927572 (E17K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101927572, THAP8 (K32R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | THAP8, LOC101927572 (K28N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Hereditary spastic paraplegia 75 | |
| | | Deletion | Brugada syndrome 5 | |
| | | Copy number gain | Specific learning disability | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Generalized epilepsy with febrile seizures plus, type 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |