| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CPEB2, LOC129992279 (G364R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CPEB2, LOC129992279 (G367E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CPEB2, LOC129992279 (G368A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CPEB2, LOC129992279 (P382S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CPEB2, LOC129992279 (P394R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CPEB2, LOC129992279 (Q395H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CPEB2, LOC129992279 (Q396E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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