| | | Copy number gain | See cases | |
| | | Duplication (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Deletion (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Microsatellite (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Microsatellite (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Microsatellite (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Microsatellite (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Microsatellite (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Microsatellite (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Duplication (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Duplication (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion (inframe_deletion) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Pitt-Hopkins-like syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Deletion (nonsense) | Pitt-Hopkins-like syndrome 2 | |