| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (inframe_insertion +1 more) | CLDN5-related neurodevelopmental disorder | |
| | | 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 (missense variant) | CLDN5-related neurodevelopmental disorder | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | CLDN5-related neurodevelopmental disorder | |
| | LOC130066967, TSSK2 +170 more | Duplication | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | 22q11.2 deletion syndrome | |
| | | Deletion | See cases | |
| | | Deletion | Immunodeficiency 51 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 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 gain | 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 | |
| | LOC126863098, LOC129391263 +169 more | Duplication | Chromosome 22q11.2 microduplication syndrome | |
| | LOC108510655, LOC110120888 +169 more | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | SEPTIN5, SERPIND1 +45 more | Copy number loss | not provided | |
| | LOC130066986, LOC130066994 +170 more | Deletion | Velocardiofacial syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | DiGeorge syndrome | |
| | | Duplication | DiGeorge syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Schizophrenia | |
| | | Copy number loss | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | 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 | 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 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental abnormality | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |