| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130061479, PSMD12 (R27H) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC130061480, PSMD12 (S6L) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | LOC130061480, PSMD12 (A9T) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Indel (missense variant) | Stankiewicz-Isidor syndrome | |
| | LOC130061479, PSMD12 (Q26*) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Stankiewicz-Isidor syndrome | |
| | PSMD12, LOC130061479 (R27S) | Single nucleotide variant (5 prime UTR variant +1 more) | Stankiewicz-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
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