| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion | Pitt-Hopkins-like syndrome 2 | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Chromosome 2p16.3 deletion syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (splice donor variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Duplication (frameshift variant) | Autism spectrum disorder | |
| | | Deletion (frameshift variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (splice acceptor variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Motor development delay | |
| | | Deletion | NRXN1-related Complex neurodevelopmental disorder | |
| | | Copy number loss | del2p16.3 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Pitt-Hopkins-like syndrome 2 | |
| | | Single nucleotide variant (nonsense) | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion (frameshift variant) | Pitt-Hopkins-like syndrome 2 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion | Autism +4 more | |
| | | Copy number loss | Functional abnormality of the bladder +1 more | |
| | | Copy number loss | Delayed speech and language development | |
| | | Copy number loss | Atypical behavior +1 more | |
| | | Deletion (intron variant) | Intellectual disability | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |