| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EI24, STT3A-AS1 (L72F +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EI24, STT3A-AS1 (S116L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | STT3A-AS1, EI24 (V126M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EI24, STT3A-AS1 (V156I +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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