| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | LOC129998995, LOC129998996 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TMEM139-AS1, TMEM140 +1052 more | Copy number gain | See cases | |
| | MIR5707, MIR595 +1046 more | Copy number gain | See cases | |
| | LOC123956245, LOC123956246 +1025 more | Copy number gain | See cases | |
| | LOC285889, LOC349160 +1025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | LOC129389950, LOC129999513 +707 more | Copy number loss | See cases | |
| | LOC129389931, LOC129389932 +573 more | Copy number loss | See cases | |
| | TRC-GCA22-1, TRC-GCA23-1 +540 more | Copy number loss | See cases | |
| | LOC129999578, LOC129999579 +538 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389937, LOC129389938 +526 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 | |
| | LOC129999684, LOC129999685 +315 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999707, LOC129999708 +225 more | 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 | Holoprosencephaly 3 | |
| | | Copy number loss | See cases | |
| | LOC123956282, LOC123956283 +173 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 gain | See cases | |
| | LOC129999762, LOC129999763 +46 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Autism | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Schizophrenia | |
| | | Copy number gain | See cases | |
| | | Duplication | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | DYNC2I1, LOC129999765 (G4V) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | DYNC2I1, LINC00689 +7 more | Copy number gain | See cases | |
| | DYNC2I1, LINC00689 +12 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Deletion (5 prime UTR variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 8 with or without polydactyly | |