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) | Thiel-Behnke corneal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Thiel-Behnke corneal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Groenouw corneal dystrophy type I +7 more | |
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