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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
(G128E +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+8 more
GConflicting classifications of pathogenicity
DYSF
(A170E +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DYSF
(L189V +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+4 more
GBenign/Likely benign
DYSF
(M483V +3 more)
Single nucleotide variant
(missense variant)
Miyoshi myopathy
+5 more
GConflicting classifications of pathogenicity
DYSF
(E457K +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(I834V +7 more)
Single nucleotide variant
(missense variant)
Miyoshi myopathy
+3 more
GBenign/Likely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+2 more
GBenign
DYSF
(R1022Q +7 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DYSF
Microsatellite
(inframe_insertion)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+7 more
GBenign/Likely benign
DYSF
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
DYSF
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
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)
not provided
+6 more
GConflicting classifications of pathogenicity
DYSF
(R1331L +7 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GBenign/Likely benign
DYSF
(I1607T +13 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
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