Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aicardi-Goutieres syndrome 6 +11 more | |
| | | Single nucleotide variant (missense variant) | ACTL6A-related BAFopathy +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Lamb-Shaffer syndrome +5 more | |
Click to view in NCBI Gene