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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
(A914fs +7 more)
Deletion
(frameshift variant)
Qualitative or quantitative defects of dysferlin
+2 more
GPathogenic
DYSF
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
(G1865D +13 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYSF
Duplication
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
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