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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 |
| NSD1 | 606681 | 277590 | 5q35 | 1-BP INS, 6450C | 0008 | WEAVER SYNDROME | 1 |
| NSD1 | 606681 | 117550 | 5q35 | ARG2005GLN | | SOTOS SYNDROME | 1 |
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