Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EDNRB, EDNRB-AS1 (W404* +1 more) | Single nucleotide variant (nonsense +1 more) | ABCD syndrome +3 more | |
| | EDNRB, EDNRB-AS1 (V260F +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | EDNRB-AS1, EDNRB (G429R +1 more) | Single nucleotide variant (missense variant +1 more) | ABCD syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | EDNRB, EDNRB-AS1 (R201* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene