| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807210, LOC126807211 +1102 more | Copy number gain | See cases | |
| | LOC126807213, LOC126807214 +1068 more | Copy number gain | See cases | |
| | LOC132089068, LOC132089069 +1051 more | Copy number gain | See cases | |
| | LOC126807202, LOC126807203 +1026 more | Copy number gain | See cases | |
| | LOC129993194, LOC129993195 +903 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993418, LOC129993419 +535 more | Copy number gain | See cases | |
| | LOC126807277, LOC126807278 +509 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC441052, LRP2BP +455 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993473, LOC129993474 +386 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993510, LOC129993511 +383 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089100, LOC132089101 +293 more | Copy number loss | See cases | |
| | LOC126807226, LOC126807227 +285 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089106, LOC132089107 +282 more | 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 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 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 gain | See cases | |
| | ANKRD37, CCDC110 +118 more | Copy number loss | See cases | |
| | LOC129993503, LOC129993504 +35 more | Deletion | Primary dilated cardiomyopathy +1 more | |
| | | Copy number loss | See cases | |
| | | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | UFSP2-related disorder | |
| | | Duplication (frameshift 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) | Developmental and epileptic encephalopathy, 1 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hip dysplasia, Beukes type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | UFSP2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy 106 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hip dysplasia, Beukes type +1 more | |
| | | 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 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CCDC110, CFAP96 (H796Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CCDC110, CFAP96 (D827G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | CCDC110, CFAP96 (V306L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FAM149A, FAM218A +197 more | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |