| | | Deletion | Dilated Cardiomyopathy, Dominant | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | LOC121587541, LOC121847976 +105 more | Copy number loss | Epilepsy syndrome | GPathogenic, low penetrance |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | LOC130058763, LOC130058764 +107 more | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | 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 gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | |
| | | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | Infantile convulsions and choreoathetosis | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Dysmorphic features | |
| | | Copy number gain | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number gain | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Mayer Rokitansky Kuster Hauser syndrome type 1 | |
| | LOC130058781, MAZ +92 more | Deletion | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number loss | not provided | |
| | LOC130058789, LOC130058790 +101 more | Deletion | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC130058767, LOC130058768 +119 more | Deletion | See cases | GLikely pathogenic, low penetrance |
| | | Copy number loss | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number gain | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | 16p11.2 duplication syndrome | |
| | | Copy number gain | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | 16p11.2p12.2 microduplication syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Deletion | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | Autism | |
| | | Copy number loss | Abnormal fetal cardiovascular morphology | |
| | | Copy number gain | Severe sensorineural hearing impairment +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Proximal 16p11.2 microdeletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |