| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EFCAB2, LOC101928068
+1 more (D6N) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene