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Items: 1 to 100 of 675

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYSF
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DYSF
(R3K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(I6N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYSF
(K36fs +1 more)
Deletion
(frameshift variant)
DYSF-related condition
+3 more
GPathogenic
DYSF
(V42M +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(N43K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(W53* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
DYSF
(I57fs +1 more)
Duplication
(frameshift variant)
Qualitative or quantitative defects of dysferlin
+1 more
GPathogenic
DYSF
(V68L +1 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Recessive
+4 more
GConflicting classifications of pathogenicity
DYSF
(V69G +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(T74M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Recessive
+4 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+2 more
GBenign
DYSF
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYSF
(A84V +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(R89* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
DYSF
(R89Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(A103V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(Q111* +1 more)
Single nucleotide variant
(nonsense)
Qualitative or quantitative defects of dysferlin
+4 more
GPathogenic
DYSF
(A115fs +1 more)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(A116T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DYSF
(S117L +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(V119fs +1 more)
Deletion
(frameshift variant)
Miyoshi muscular dystrophy 1
+4 more
GPathogenic
DYSF
Single nucleotide variant
(synonymous variant)
DYSF-related condition
+2 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(G128E +1 more)
Single nucleotide variant
(missense variant)
DYSF-related condition
+7 more
GConflicting classifications of pathogenicity
DYSF
(L133fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DYSF
(P131R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Recessive
+7 more
GBenign/Likely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(P135L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+3 more
GConflicting classifications of pathogenicity
DYSF
(P136fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DYSF
(P142A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GBenign/Likely benign
DYSF
(P143Q +1 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Recessive
+3 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
+1 more
GBenign
DYSF
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+1 more
GBenign
DYSF
(G187R +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(E157K +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(A170V +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(A170E +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+3 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
DYSF-related condition
+2 more
GConflicting classifications of pathogenicity
DYSF
(G178R +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(G179S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(L189V +3 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Recessive
+4 more
GBenign/Likely benign
DYSF
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Recessive
+3 more
GBenign/Likely benign
DYSF
(H197fs +3 more)
Duplication
(frameshift variant)
not provided
GPathogenic
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(R204* +3 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DYSF
(A206V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(T208A +3 more)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Recessive
+3 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DYSF
(S209F +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DYSF
(L212P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYSF
(P217L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYSF
(Q221* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DYSF
(Q221H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(splice donor variant)
Qualitative or quantitative defects of dysferlin
+4 more
GPathogenic
DYSF
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
DYSF
Single nucleotide variant
(intron variant)
DYSF-related condition
+2 more
GConflicting classifications of pathogenicity
DYSF
(V226M +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
(P233L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DYSF
(G234E +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
DYSF
(V235M +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+3 more
GConflicting classifications of pathogenicity
DYSF
(N236T +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GConflicting classifications of pathogenicity
DYSF
Indel
(inframe_indel)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(R283W +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GUncertain significance
DYSF
(T252M +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
DYSF
(R285W +3 more)
Single nucleotide variant
(missense variant)
Distal myopathy with anterior tibial onset
+4 more
GPathogenic/Likely pathogenic
DYSF
(R253Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
DYSF
(H255P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(N258K +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GUncertain significance
DYSF
(L261F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(E264* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DYSF
(E264D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(splice donor variant)
Miyoshi muscular dystrophy 1
+3 more
GPathogenic/Likely pathogenic
DYSF
Single nucleotide variant
(splice donor variant)
Qualitative or quantitative defects of dysferlin
+1 more
GPathogenic
DYSF
Single nucleotide variant
(intron variant)
Limb-Girdle Muscular Dystrophy, Recessive
+6 more
GBenign/Likely benign
DYSF
Single nucleotide variant
(splice acceptor variant)
Qualitative or quantitative defects of dysferlin
+1 more
GPathogenic/Likely pathogenic
DYSF
(L266R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(E277fs +3 more)
Deletion
(frameshift variant)
Distal myopathy with anterior tibial onset
+4 more
GPathogenic
DYSF
(P281L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(I284T +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+2 more
GUncertain significance
DYSF
(T285M +3 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+4 more
GUncertain significance
DYSF
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
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