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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
(R555W +7 more)
Single nucleotide variant
(missense variant)
DYSF-Related Disorders
+3 more
GPathogenic
DYSF
(M968L +7 more)
Single nucleotide variant
(missense variant)
Distal myopathy with anterior tibial onset
+6 more
GConflicting classifications of pathogenicity
DYSF
(W1028* +7 more)
Single nucleotide variant
(nonsense)
DYSF-Related Disorders
GPathogenic
DYSF, LOC122787137
(I1298V +7 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+6 more
GConflicting classifications of pathogenicity
DYSF
(R2039Q +13 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
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