| | | Deletion | not provided | |
| | KRTAP10-7, KRTAP10-8 +44 more | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | KRTAP10-4, KRTAP10-2 +44 more | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | KRTAP10-7, KRTAP10-8 +58 more | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Progressive myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | C21orf58, YBEY (R179G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | C21orf58, YBEY (P304L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | C21orf58, COL18A1 +11 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Down syndrome | |
| | | Copy number loss | Delayed speech and language development | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | ADAMTS1, ADAMTS5 +216 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | KRTAP10-3, KRTAP12-4 +74 more | Duplication | Primary ciliary dyskinesia +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | C21orf58, COL18A1 +13 more | Copy number gain | not provided | |
| | COL6A2, KRTAP20-3 +220 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | C21orf58, COL18A1 +13 more | Copy number loss | 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 | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Axenfeld-Rieger syndrome type 3 | |
| | KRTAP10-12, KRTAP10-2 +245 more | Duplication | Autism | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | 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 loss | See cases | |
| | C21orf58, COL18A1 +15 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LCA5L, LINC00111 +1159 more | Copy number gain | See cases | |
| | LOC126653353, LOC126653354 +1160 more | Copy number gain | See cases | |
| | LOC130066735, LOC130066736 +340 more | Copy number loss | See cases | |
| | KRTAP8-1, LCA5L +1160 more | Copy number gain | See cases | |
| | RNA5-8SN1, RNA5-8SN2 +1160 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066795, LOC130066796 +1156 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066804, LOC130066805 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126653353, LOC126653354 +1159 more | Copy number gain | See cases | |
| | LOC129388418, LOC129391214 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01424, LINC01436 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066759, LOC130066760 +586 more | Copy number gain | See cases | |
| | LINC00515, LINC00649 +1159 more | Copy number gain | See cases | |
| | LOC130066731, LOC130066732 +1159 more | Copy number gain | See cases | |