| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | LOC129995188, LOC129995189 +863 more | Copy number gain | See cases | |
| | LOC129995377, LOC129995378 +676 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 2, neurogenic type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ERGIC1-related condition | |
| | | Single nucleotide variant (intron variant) | ERGIC1-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | ERGIC1-related condition | |
| | | Single nucleotide variant (missense variant) | Flexion contracture | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Deletion | Atrial septal defect 7 | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Hunter-McAlpine craniosynostosis | |
| | | Copy number loss | not specified | |
| | | Deletion | Arthrogryposis multiplex congenita | |
| | | Copy number gain | 5q35 microduplication syndrome | |
| | | Copy number loss | Atrial septal defect 7 | |
| | | Duplication | Congenital hydrocephalus | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |