| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Microcephaly-digital anomalies-intellectual disability syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number gain | Chromosome 22q11.2 deletion syndrome, distal +1 more | |
| | | Copy number gain | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | LOC130066999, LOC130067004 +170 more | Deletion | Velocardiofacial syndrome | |
| | LOC130066967, TSSK2 +170 more | Duplication | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | 22q11.2 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | RANBP1, TRMT2A (K46E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | RANBP1, TRMT2A (T24M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RANBP1, TRMT2A (A112T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RANBP1, TRMT2A (R57W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RANBP1, TRMT2A (R25S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | 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 | |
| | | 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 gain | 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 | not provided | |
| | | Copy number loss | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Syndromic anorectal malformation | |
| | | Copy number loss | Syndromic anorectal malformation | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | DGCR6L, LOC130066982 +169 more | Duplication | Chromosome 22q11.2 microduplication syndrome | |
| | LOC130066952, LOC132090628 +169 more | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | not provided | |
| | LOC130066986, LOC130066994 +170 more | Deletion | Velocardiofacial syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | DiGeorge syndrome | |
| | | Copy number loss | Schizophrenia | |
| | | Copy number loss | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Cerebral palsy | |
| | | Copy number loss | See cases | |
| | | Deletion | DiGeorge syndrome | |
| | | Deletion | DiGeorge syndrome | |
| | | Deletion | DiGeorge syndrome | |
| | | Copy number gain | Epilepsy +1 more | |
| | | Deletion | Intellectual disability | |
| | | Deletion | Epilepsy +1 more | |
| | | Copy number gain | Cryptorchidism +1 more | |
| | | Copy number gain | Atypical behavior +2 more | |
| | | Copy number gain | Motor delay +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |