| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC132090015, OAS3 (L442F) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC132090015, OAS3 (R418H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC132090015, OAS3 (L416M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
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