| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more | |
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