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Gene Mutations
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| Records Return:
(8)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CLN2 | 607998 | 607998 | 11p15.5 | 4188A>G | | CEROID LIPOFUSCINOSIS, NEURONAL 2 | 1 |
| CLN2 | 607998 | 204500 | 11p15.5 | ARG127GLN | | CEROID LIPOFUSCINOSIS, NEURONAL 2 | 2 |
| CLN2 | 607998 | 204500 | 11p15.5 | ARG127TER | | CEROID LIPOFUSCINOSIS, NEURONAL 2 | 2 |
| CLN2 | 607998 | 204500 | 11p15.5 | ARG208TER | 0003 | CEROID LIPOFUSCINOSIS, NEURONAL 2 | 4 |
| CLN2 | 607998 | 204500 | 11p15.5 | c.376_380+6del | | CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 | 1 |
| CLN2 | 607998 | 204500 | 11p15.5 | ILE287ASN | | CEROID LIPOFUSCINOSIS, NEURONAL 2 | 1 |
| CLN2 | 607998 | 204500 | 11p15.5 | IVS5-1G>A | | CEROID LIPOFUSCINOSIS, NEURONAL 2 | 3 |
| CLN2 | 607998 | 204500 | 11p15.5 | IVS5AS, G>C, -1 | 0004 | CEROID LIPOFUSCINOSIS, NEURONAL 2 | 5 |
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