| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Duane retraction syndrome 3 with or without deafness +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Duane retraction syndrome 3 with or without deafness +2 more | |
| | | Single nucleotide variant (missense variant) | Duane retraction syndrome 3 with or without deafness +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Multicentric carpo-tarsal osteolysis with or without nephropathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MAFB-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multicentric carpo-tarsal osteolysis with or without nephropathy +2 more | |
Click to view in NCBI Gene