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Items: 1 to 100 of 4101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806252, LOC126806253
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
ADD2, ANKRD53
+48 more
Copy number gain
See cases
GUncertain significance
DYSF
Single nucleotide variant
not provided
GBenign
DYSF
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYSF
Single nucleotide variant
(5 prime UTR variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(5 prime UTR variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(5 prime UTR variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DYSF
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
DYSF
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DYSF
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DYSF
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
DYSF
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DYSF
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
DYSF
(M1V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
(M1T)
Single nucleotide variant
(missense variant +1 more)
Qualitative or quantitative defects of dysferlin
+1 more
GPathogenic/Likely pathogenic
DYSF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DYSF
(R3K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(R3S)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(V4G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYSF
(I6N)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(L7F)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(Y8*)
Single nucleotide variant
(nonsense)
Qualitative or quantitative defects of dysferlin
+2 more
GPathogenic/Likely pathogenic
DYSF
(A9T)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(N11K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(V12F)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(P15fs)
Microsatellite
(frameshift variant)
Miyoshi muscular dystrophy 1
GLikely pathogenic
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(D16H)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(T17A)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(S20fs)
Deletion
(frameshift variant)
Qualitative or quantitative defects of dysferlin
GPathogenic
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(C24fs)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely pathogenic
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(Y23C)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
+1 more
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(G30R)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
DYSF
Single nucleotide variant
(splice donor variant)
Miyoshi muscular dystrophy 1
GLikely pathogenic
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
not provided
GBenign
DYSF
Single nucleotide variant
(intron variant)
not provided
GBenign
DYSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
not provided
GBenign
DYSF
Single nucleotide variant
(intron variant)
not provided
GBenign
DYSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYSF
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DYSF
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
DYSF
(K17del)
Microsatellite
(inframe_deletion +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2B
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYSF
(R19W)
Single nucleotide variant
(missense variant +1 more)
Miyoshi muscular dystrophy 1
GUncertain significance
DYSF
Single nucleotide variant
(intron variant)
not provided
GBenign
DYSF
Single nucleotide variant
(intron variant)
not provided
GBenign
DYSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Duplication
(intron variant)
Qualitative or quantitative defects of dysferlin
GBenign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Deletion
Qualitative or quantitative defects of dysferlin
GPathogenic
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(intron variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
Deletion
Qualitative or quantitative defects of dysferlin
GPathogenic
DYSF
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(K33fs +1 more)
Deletion
(frameshift variant)
Qualitative or quantitative defects of dysferlin
GPathogenic
DYSF
(K32R +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GUncertain significance
DYSF
(K33T +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
+1 more
GConflicting classifications of pathogenicity
DYSF
(T35S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYSF
(V37fs +1 more)
Deletion
(frameshift variant)
Qualitative or quantitative defects of dysferlin
GPathogenic
DYSF
Single nucleotide variant
(synonymous variant)
Qualitative or quantitative defects of dysferlin
GLikely benign
DYSF
(K36E +1 more)
Single nucleotide variant
(missense variant)
Qualitative or quantitative defects of dysferlin
GUncertain significance
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