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Gene Mutations
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| Records Return:
(4)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| RAI1 | 607642 | 182290 | 17p11.2 | 253del19 | 0007 | SMITH-MAGENIS SYNDROME | 1 |
| RAI1 | 607642 | 182290 | 17p11.2 | 2773del29 | 0003 | SMITH-MAGENIS SYNDROME | 1 |
| RAI1 | 607642 | 182290 | 17p11.2 | ALA75SER | | SMITH-MAGENIS SYNDROME | 2 |
| RAI1 | 607642 | 182290 | 17p11.2 | LYS1753TER | | SMITH-MAGENIS SYNDROME | 1 |
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