Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (missense variant +1 more) | Corneal dystrophy, Fuchs endothelial, 4 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Corneal dystrophy-perceptive deafness syndrome +3 more | |
| | LOC130065323, SLC4A11 (R7L) | Single nucleotide variant (missense variant +1 more) | Corneal dystrophy, Fuchs endothelial, 4 | |
| | | Single nucleotide variant (nonsense +1 more) | SLC4A11-related condition +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hereditary endothelial dystrophy of cornea +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Corneal dystrophy-perceptive deafness syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Corneal dystrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Corneal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Corneal dystrophy, Fuchs endothelial, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Corneal dystrophy, Fuchs endothelial, 4 +3 more | GPathogenic/Likely pathogenic |
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