| | | Copy number gain | See cases | |
| | LOC130066920, LOC130066917 +112 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Anomalous pulmonary venous return | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC01664, LINC02891 +226 more | Copy number gain | See cases | |
| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067034, LOC130067035 +535 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090637, LOC132090638 +292 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066946, LOC130066947 +2 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01637, LINC02891 +189 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090918, LOC132090919 +189 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112694767, LOC114004361 +187 more | Copy number gain | See cases | |
| | | Deletion | Schizophrenia | |
| | | Deletion | Schizophrenia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Schizophrenia | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | LOC130067020, LOC132090627 +187 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Pseudo-TORCH syndrome 2 | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Pseudo-TORCH syndrome 2 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Pseudo-TORCH syndrome 2 | GPathogenic/Likely pathogenic |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Immunodeficiency 51 +1 more | |
| | | 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 loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number gain | Cat eye syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number gain | See cases | |