| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Glaucoma 1, open angle, E | |
| | LOC108903148, LOC108903149 +1 more | Deletion (splice acceptor variant +1 more) | Amyotrophic lateral sclerosis type 12 | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
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