| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006895, LOC130006896 +355 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC128772366, LOC128772367 +764 more | Copy number gain | See cases | |
| | LOC130006864, LOC130006865 +763 more | Copy number gain | See cases | |
| | LOC130007002, LOC130007003 +499 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Schizophrenia | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC130006882, RPS25 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Insertion | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Insertion | not provided | |
| | | Insertion | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | TRAPPC4-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (stop lost) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Atrial fibrillation, familial, 14 | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | RASopathy +5 more | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Immunodeficiency 18 +4 more | |
| | | Duplication | Distal trisomy 11q | |
| | | Deletion | Combined immunodeficiency due to CD3gamma deficiency +3 more | |
| | | Copy number gain | not provided | |
| | APLP2, LINC02873 +169 more | Deletion | Anemia +7 more | |
| | | Copy number gain | not provided | |
| | | Deletion | Long QT syndrome 10 | |
| | | Copy number gain | not provided | |
| | ARHGAP32, ARHGEF12 +177 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |