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Links from MedGen

Items: 1 to 100 of 602

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous 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
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(splice acceptor 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
+1 more
GLikely benign
BIN1
(Q212E +3 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(G5E)
Indel
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(N205I +3 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron 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
(S202G +3 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
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
(Q453R +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
(V384F +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(A215V +3 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
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(D100G +2 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(G320S +4 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(A343V +12 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(P68L +2 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(T358I +3 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(V374M +3 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
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
(P367S +3 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(G296S +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
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
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Indel
(intron variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(K320T +3 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(S300C +4 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(E50* +2 more)
Single nucleotide variant
(nonsense)
Myopathy, centronuclear, 2
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
(E348D +3 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(Q184H +1 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
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
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous 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
(W460* +15 more)
Single nucleotide variant
(nonsense)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(M4T)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(A145D +2 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(Q344E +3 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(D375N +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(Q27E +2 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
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(R24C)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
BIN1-related condition
+1 more
GLikely benign
BIN1
(T393K +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(M395I +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(S373R +6 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
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
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant)
Myopathy, centronuclear, 2
GLikely benign
BIN1
Single nucleotide variant
(synonymous variant +1 more)
Myopathy, centronuclear, 2
GLikely benign
BIN1
(R39W +2 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(M102V +2 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(G313R +12 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(S248F +4 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(Q332H +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(K53R +2 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(P385L +15 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(N207S +3 more)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(A333D +6 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, centronuclear, 2
GUncertain significance
BIN1
(N25I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BIN1
Duplication
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Duplication
Myopathy, centronuclear, 2
GUncertain significance
BIN1
Single nucleotide variant
(intron variant)
Myopathy, centronuclear, 2
GUncertain significance
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