| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (intron variant) | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome +1 more | |
| | | Duplication (intron variant) | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome +1 more | |
Click to view in NCBI Gene