| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126859857, SLC22A1 (G253R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126859857, SLC22A1 (T235M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
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