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Gene Mutations
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| Records Return:
(5)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| LMNA | 150330 | 181350 | 1q21.2 | ARG249GLN | | EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT | 1 |
| LMNA | 150330 | 176670 | 1q21.2 | ARG644CYS | | HUTCHINSON-GILFORD PROGERIA SYNDROME | 1 |
| LMNA | 150330 | 115200 | 1q21.2 | c.1634G>A (p.Arg545His) | | CARDIOMYOPATHY, DILATED, 1A; CMD1A | 1 |
| LMNA | 150330 | 176670 | 1q21.2 | GLY608GLY | 0022 | HUTCHINSON-GILFORD PROGERIA SYNDROME | 1 |
| LMNA | 150330 | 181350 | 1q21.2 | LEU35PRO | | EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT | 1 |
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