| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (intron variant) | Clubfoot +14 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +15 more | |
Click to view in NCBI Gene