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Items: 1 to 100 of 256

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(Q327E +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(R324C +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(R324fs +4 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(S323P +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(S172L +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Duplication
(inframe_insertion)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(K321* +4 more)
Insertion
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(R314W +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(L336M +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(E158K +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(Y157* +4 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(D148N +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(N142del +4 more)
Deletion
(inframe_deletion +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(N142K +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(N289K +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIMS2
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LIMS2
(V273E +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+2 more
GBenign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GBenign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GBenign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(V116L +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(E289K +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GBenign/Likely benign
LIMS2
(D103A +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(G276R +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(Q275R +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
LIMS2
(E241K +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(E260A +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(R230Q +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(R230W +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(C246fs +4 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(F217L +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(F217fs +4 more)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
LIMS2
(H216Y +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GBenign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(V243M +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(A234E +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(A207V +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LIMS2
(V234I +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GUncertain significance
LIMS2
(R203Q +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(R230* +4 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GBenign
LIMS2
(G202S +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(E201K +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LIMS2
(R225Q +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(R224H +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LIMS2
(C223Y +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(G199R +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GBenign
LIMS2
(I192F +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(V190A +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(V190I +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(M188V +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GUncertain significance
LIMS2
(L175P +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LIMS2
(E174K +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2W
GLikely benign
LIMS2
(R173H +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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