Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Nance-Horan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Cataract 40 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Cataract 40 | |
| | | Single nucleotide variant (missense variant) | Cataract 40 +1 more | |
| | | Single nucleotide variant (missense variant) | Nance-Horan syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Nance-Horan syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | not provided +3 more | |
| | | Deletion (intron variant) | Cataract 40 | |
| | | Copy number gain | Cataract 40 | |
| | | Single nucleotide variant (nonsense) | Nance-Horan syndrome +2 more | |
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