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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
(M797K +7 more)
Single nucleotide variant
(missense variant)
Muscle weakness
+3 more
GUncertain significance
DYSF
(C810fs +7 more)
Deletion
(frameshift variant)
Absent muscle fiber dysferlin
+3 more
GPathogenic
DYSF
(R1038Q +7 more)
Single nucleotide variant
(missense variant)
Miyoshi muscular dystrophy 1
+4 more
GPathogenic/Likely pathogenic
DYSF
(V1403I +7 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(S1491Y +13 more)
Single nucleotide variant
(missense variant)
Distal myopathy with anterior tibial onset
+1 more
GUncertain significance
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