Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Meckel syndrome 14 | |
| | | Duplication (frameshift variant) | Meckel syndrome 14 | |
| | | Duplication (frameshift variant) | Meckel syndrome 14 | |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Meckel syndrome 14 | |
| | | Deletion (inframe_deletion) | Meckel syndrome 14 | |
Click to view in NCBI Gene