| | | Single nucleotide variant (splice donor variant) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (splice donor variant) | Osteootohepatoenteric syndrome | |
| | RCCD1-AS1, UNC45A (A693P +1 more) | Single nucleotide variant (missense variant) | Osteootohepatoenteric syndrome | |
| | | Insertion (frameshift variant) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (missense variant) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (nonsense) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (missense variant) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Osteootohepatoenteric syndrome | |
| | RCCD1-AS1, UNC45A (Q861* +2 more) | Single nucleotide variant (nonsense) | Osteootohepatoenteric syndrome | |
| | RCCD1-AS1, UNC45A (S748L +3 more) | Single nucleotide variant (missense variant) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (nonsense) | Osteootohepatoenteric syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | UNC45A-associated Cholestasis +3 more | |