Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RIPPLY2, RIPPLY2-CYB5R4 (L100fs) | Deletion (frameshift variant +1 more) | Klippel-Feil syndrome 2, autosomal recessive | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Klippel-Feil syndrome 2, autosomal recessive | |
| | | Single nucleotide variant (nonsense +1 more) | Klippel-Feil syndrome 2, autosomal recessive | |
| | | Deletion (frameshift variant +1 more) | Klippel-Feil syndrome 2, autosomal recessive | |
Click to view in NCBI Gene