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Items: 11

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