| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ITGB4, GALK1 (L1779P +2 more) | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Deficiency of galactokinase | |
| | | Single nucleotide variant (5 prime UTR variant) | Deficiency of galactokinase +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene