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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF, LOC122787137
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF, LOC122787137
(I1298V +7 more)
Single nucleotide variant
(missense variant)
DYSF-related disorder
+6 more
GConflicting classifications of pathogenicity