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Gene Mutations
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| Records Return:
(6)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| KIF1A | 601255 | 614255 | 2q37.3 | c.452G>A | | NESCAV Syndrome | 1 |
| KIF1A | 601255 | 614255 | 2q37.3 | c.609G>T | | NESCAV Syndrome | 1 |
| KIF1A | 601255 | 614255 | 2q37.3 | c.757G>A | | NESCAV Syndrome | 1 |
| KIF1A | 601255 | 614255 | 2q37.3 | c.914C>T | | NESCAV Syndrome | 1 |
| KIF1A | 601255 | 614255 | 2q37.3 | c.946C>T | | NESCAV Syndrome | 1 |
| KIF1A | 601255 | 614255 | 2q37.3 | GLY484SER | | MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9 | 1 |
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