| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MLX, PSMC3IP (D137N +3 more) | Single nucleotide variant (missense variant +2 more) | PSMC3IP-related disorder | |
| | PSMC3IP, LOC130060911 (R5P) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | MLX, PSMC3IP (T143M +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC130060911, PSMC3IP (R5G) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | MLX, PSMC3IP (V212F +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC130060911, PSMC3IP (R5Q) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC130060911, PSMC3IP (R5W) | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | MLX, PSMC3IP (E126fs +3 more) | Deletion (frameshift variant +2 more) | Ovarian dysgenesis 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Microsatellite (splice acceptor variant +1 more) | Ovarian dysgenesis 3 | |
Click to view in NCBI Gene