| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome | |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalocraniocutaneous lipomatosis +3 more | |
| | | Single nucleotide variant (missense variant) | Jackson-Weiss syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Hartsfield-Bixler-Demyer syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hypogonadotropic hypogonadism 2 with or without anosmia +6 more | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalocraniocutaneous lipomatosis +1 more | |
Click to view in NCBI Gene