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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| MBD5 | 611472 | 156200 | 2q23.1 | 713kb DEL at 2q22.3-q23.1 | | | 1 |
| MBD5 | 611472 | 156200 | 2q23.1 | Gln1015Arg | | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1; MRD1 | 1 |
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