| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067034, LOC130067035 +535 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | LOC130066994, LOC130066995 +287 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +798 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADORA2A, ADORA2A-AS1 +823 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CCDC116, FAM230B +102 more | Copy number loss | See cases | |
| | CCDC116, FAM230B +102 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929044, LOC129929045 +176 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | GPathogenic/Likely pathogenic |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | PPM1F, PPM1F-AS1 (E113del) | Microsatellite (non-coding transcript variant +1 more) | not provided | |
| | PPM1F, PPM1F-AS1 (E107del) | Microsatellite (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | PPM1F, PPM1F-AS1 (E107del) | Microsatellite (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Cat eye syndrome +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number gain | See cases | |
| | | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number gain | 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 gain | not provided | |
| | | Deletion | DiGeorge syndrome | |
| | | Copy number gain | 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 | |
| | | Copy number loss | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | 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 gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |