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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 |
| SH2D1A | 300490 | 308240 | Xq25-q26 | 577G>A | | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED | 1 |
| SH2D1A | 300490 | 308240 | Xq25-q26 | ARG55TER | 0001 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED | 1 |
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