| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 +1 more) | not specified | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 52 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | LMAN2L-related disorder | |
| | | Single nucleotide variant (synonymous variant) | LMAN2L-related disorder | |
| | | Single nucleotide variant (intron variant) | LMAN2L-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | LMAN2L-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LMAN2L-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +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 | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 52 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal recessive 52 | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 52 | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder, autosomal dominant 69 | |
| | | Duplication | not provided | |
| | | Deletion (frameshift variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Cleft lip +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 52 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 52 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal recessive 52 +1 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 52 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | not provided | |
| | ANKRD36B, ANKRD39 +20 more | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | C2orf15, C2orf49 +122 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Schizophrenia | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 52 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |