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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 |
| NPC2 | 601015 | 607625 | 14q24.3 | CYS47PHE | | NIEMANN-PICK DISEASE, TYPE C2 | 1 |
| NPC2 | 601015 | 607625 | 14q24.3 | CYS93PHE | | NIEMANN-PICK DISEASE, TYPE C2 | 1 |
| NPC2 | 601015 | 607625 | 14q24.3 | GLU20TER | 0001 | NIEMANN-PICK DISEASE, TYPE C2 | 1 |
| NPC2 | 601015 | 607625 | 14q24.3 | IVS1+2T>C | | NIEMANN-PICK DISEASE, TYPE C2 | 1 |
| NPC2 | 601015 | 607625 | 14q24.3 | VAL30MET | | NIEMANN-PICK DISEASE, TYPE C2 | 1 |
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