| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583
+1753 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Deletion (frameshift variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (nonsense) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (nonsense) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (nonsense) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PSMD12-related disorder | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | PSMD12-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (nonsense) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spermatogenic failure 18 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Microsatellite (5 prime UTR variant +2 more) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | LOC130061479, PSMD12 (R27H) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | PSMD12, LOC130061479 (R27S) | Single nucleotide variant (5 prime UTR variant +1 more) | Stankiewicz-Isidor syndrome | |
| | LOC130061479, PSMD12 (Q26*) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130061480, PSMD12 (A9T) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130061480, PSMD12 (E7G) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130061480, PSMD12 (S6L) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |