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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
(P1400R +7 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+3 more
GConflicting classifications of pathogenicity
DYSF
(A1715S +13 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity