| | | Single nucleotide variant (synonymous variant) | Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | |
| | | Single nucleotide variant (missense variant) | Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Hypertriglyceridemia 1 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | 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) | not specified | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | APLP2, LINC02873 +169 more | Deletion | Anemia +7 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006826, LOC130006827 +90 more | Copy number gain | See cases | |
| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | LOC130006895, LOC130006896 +355 more | Copy number gain | See cases | |