Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +13 more | |
| | | Single nucleotide variant (missense variant) | Bipolar affective disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene