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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 |
| SMPD1 | 607608 | 257200 | 11p15.4-p15.1 | 1-BP DEL, PRO330FS | 0011 | NIEMANN-PICK DISEASE, TYPE A | 3 |
| SMPD1 | 607608 | 257200 | 11p15.4-p15.1 | ARG496LEU | 0001 | NIEMANN-PICK DISEASE, TYPE A | 1 |
| SMPD1 | 607608 | 607616 | 11p15.4-p15.1 | ARG608DEL | 0002 | NIEMANN-PICK DISEASE, TYPE B | 1 |
| SMPD1 | 607608 | 257200 | 11p15.4-p15.1 | LEU302PRO | 0010 | NIEMANN-PICK DISEASE, TYPE A | 4 |
| SMPD1 | 607608 | 607616 | 11p15.4-p15.1 | p.L43_A44delLA | | NIEMANN-PICK DISEASE, TYPE A | 2 |
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