| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | POU3F2-related disorder | |
| | LOC129996863, POU3F2 (Q130H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129996863, POU3F2 (Q134K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene