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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYT2
Deletion
(inframe_deletion)
Muscle weakness
+1 more
GLikely pathogenic
PMP22
(V141G)
Single nucleotide variant
(missense variant +1 more)
Roussy-Lévy syndrome
+3 more
GUncertain significance