| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126860417, MSC-AS1
+1 more (V861F) | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly upper body involvement | |
| | | Deletion (non-coding transcript variant +1 more) | Familial episodic pain syndrome with predominantly upper body involvement | |
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