| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130057927, LOC130057928
+1764 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (G16R) | Single nucleotide variant (missense variant) | not provided | |
| | LACTB, LOC130057223 (G16R) | Single nucleotide variant (missense variant) | Abnormality of neuronal migration | |
| | LACTB, LOC130057223 (G17A) | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (R25C) | Single nucleotide variant (missense variant) | not provided | |
| | LACTB, LOC130057223 (A51S) | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (G62R) | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (G62V) | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (P69L) | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (P90R) | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (P93T) | Single nucleotide variant (missense variant) | not specified | |
| | LACTB, LOC130057223 (I108M) | Single nucleotide variant (missense variant) | not specified | |
Click to view in NCBI Gene