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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNE1
(E6720A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE1
(V5042I +1 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+3 more
GConflicting classifications of pathogenicity