| | | Deletion | Autism | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00668, LINC01254 +379 more | Copy number gain | See cases | |
| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129390958, LOC130062070 +300 more | Copy number gain | See cases | |
| | NDUFV2-AS1, PIEZO2 +374 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062167, LOC130062168 +367 more | Copy number loss | See cases | |
| | LOC125338465, LOC125338466 +367 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062104, LOC130062105 +368 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062144, LOC130062145 +368 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862677, LOC126862678 +41 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390955, LOC129390956 +358 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | | 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 | |
| | | Microsatellite | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | TYMS-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | TYMS-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita | |
| | | Single nucleotide variant (nonsense +1 more) | Dyskeratosis congenita | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | TYMS-related disorder | |
| | ENOSF1, TYMS (Q160H +1 more) | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita | |
| | ENOSF1, TYMS (R163fs +1 more) | Deletion (frameshift variant +1 more) | Dyskeratosis congenita | |
| | ENOSF1, TYMS (M179* +1 more) | Insertion (nonsense +1 more) | Dyskeratosis congenita | |
| | ENOSF1, TYMS (R185K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (splice donor variant +1 more) | Dyskeratosis congenita | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | ENOSF1, TYMS (I154T +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | ENOSF1, TYMS (R188* +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Dyskeratosis congenita | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |