| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | |
| | | Single nucleotide variant (nonsense) | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
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