| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EML1, LOC126862047 (D746N +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EML1, LOC126862047 (R793M +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EML1, LOC126862047 (V746A +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EML1, LOC126862047 (R800C +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene