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Items: 1 to 100 of 537

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BIN1, LOC112806045
Duplication
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(V384F +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(R383G +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(T381I +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(E417K +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(F376S +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(V583I +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(R581C +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(L393V +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(E392L +15 more)
Indel
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(W460* +15 more)
Single nucleotide variant
(nonsense)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(D386E +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
+1 more
GUncertain significance
BIN1
(D570N +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(V443L +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(V397M +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(M395I +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(M425T +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(D375N +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(splice acceptor variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GConflicting classifications of pathogenicity
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(Q440K +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(E349V +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(P347S +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(D434E +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GConflicting classifications of pathogenicity
BIN1
(K542R +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
+2 more
GConflicting classifications of pathogenicity
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
+2 more
GBenign/Likely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(T449K +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(T367I +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(T416S +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(T393K +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(T532M +15 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
BIN1
(D530N +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
BIN1
(Q453R +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(A416V +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(Q526R +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
+1 more
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(G312R +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(L331F +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(R391H +15 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BIN1
(R306C +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GBenign/Likely benign
BIN1
(G305E +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(G305R +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(A343T +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(G303E +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(G340S +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(V298M +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
+1 more
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GConflicting classifications of pathogenicity
BIN1
(G296S +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(F359L +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
+1 more
GUncertain significance
BIN1
(V287L +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(V286M +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GConflicting classifications of pathogenicity
BIN1
(V339A +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GConflicting classifications of pathogenicity
BIN1
(P283fs +15 more)
Deletion
(frameshift variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(P368fs +15 more)
Deletion
(frameshift variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BIN1
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(S333C +12 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(A481V +12 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
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