| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Borjeson-Forssman-Lehmann syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Borjeson-Forssman-Lehmann syndrome | |
| | | Single nucleotide variant (intron variant) | Borjeson-Forssman-Lehmann syndrome | |
Click to view in NCBI Gene