| | | Copy number gain | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Tessadori-Van Haaften neurodevelopmental syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Tessadori-Van Haaften neurodevelopmental syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Tessadori-Van Haaften neurodevelopmental syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Tessadori-Van Haaften neurodevelopmental syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | H4C5-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |