| | LINC02553, LINC02700 +528 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANGPTL5, ARHGAP42 +149 more | Copy number loss | See cases | |
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | 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 | |
| | | Copy number loss | not provided | |
| | ANGPTL5, ARHGAP42 +30 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |