| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC110121502, MCS+9.7
+1 more | Single nucleotide variant (intron variant) | Multiple endocrine neoplasia, type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
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