Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Corneal dystrophy, posterior polymorphous, 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal dominant nonsyndromic hearing loss 28 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome +4 more | |
| | | Deletion (intron variant) | Corneal dystrophy, posterior polymorphous, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Corneal dystrophy, posterior polymorphous, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Corneal dystrophy, posterior polymorphous, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
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