| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite | GDF11-related disorder | |
| | | Microsatellite | GDF11-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant) | Vertebral hypersegmentation and orofacial anomalies | |
| | | 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) | GDF11-related disorder | |
| | | 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) | Vertebral hypersegmentation and orofacial anomalies +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vertebral hypersegmentation and orofacial anomalies | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Vertebral hypersegmentation and orofacial anomalies | |
| | | Single nucleotide variant (nonsense) | GDF11-associated multiple congenital anomalies and ID | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | SLC15A5, SLC16A7 +1006 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |