| | | Microsatellite (frameshift variant +2 more) | Intellectual disability, autosomal recessive 66 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | C12orf4-related disorder | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 66 | |
| | | Deletion | not provided | |
| | | Duplication | Lymphoproliferative syndrome 2 | |
| | | Duplication | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Microsatellite (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability, autosomal recessive 66 | |
| | | Indel (frameshift variant +1 more) | Intellectual disability, autosomal recessive 66 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number gain | Single transverse palmar crease +6 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Microsatellite (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Copy number loss | Global developmental delay +1 more | |
| | | Duplication | Episodic ataxia type 1 | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | ADIPOR2, B4GALNT3 +33 more | Copy number loss | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability, autosomal recessive 66 | |
| | | Indel (splice acceptor variant +2 more) | Intellectual disability, autosomal recessive 66 | |
| | | Insertion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 66 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Delayed speech and language development | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 66 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 66 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | 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 | 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 | |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Insertion (frameshift variant +2 more) | Intellectual disability +3 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |