| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GFER, LOC130058203 (A73fs) | Deletion (frameshift variant) | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +2 more | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
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