Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Isolated microphthalmia 5 | |
| | CRYGD, LOC100507443 (S78F) | Single nucleotide variant (missense variant) | Cataract 4 multiple types | |
| | | Single nucleotide variant (missense variant) | Baraitser-Winter syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani 4 syndrome, recessive | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani 4 syndrome, recessive | |
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