Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Endocrine-cerebro-osteodysplasia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Endocrine-cerebro-osteodysplasia syndrome | |
| | | Deletion (inframe_deletion +1 more) | CILK1-related condition +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Endocrine-cerebro-osteodysplasia syndrome | |
Click to view in NCBI Gene