Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Thiel-Behnke corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Thiel-Behnke corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Reis-Bucklers' corneal dystrophy +7 more | |
Click to view in NCBI Gene