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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
(S289P +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(G331E +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+2 more
GPathogenic
DYSF
Insertion
(inframe_insertion)
not specified
+3 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GConflicting classifications of pathogenicity
DYSF
(W930C +7 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DYSF
(K1598N +13 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(E1752K +13 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(M1835V +13 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
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