Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Congenital hypotrichosis with juvenile macular dystrophy | |
| | | Single nucleotide variant (missense variant +3 more) | Vitelliform macular dystrophy 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive bestrophinopathy +2 more | GPathogenic/Likely pathogenic |
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