| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PAX6DRR, ELP4 (R316P +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ELP4, PAX6DRR (S333T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ELP4, PAX6DRR (R356Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +1 more | |
Click to view in NCBI Gene