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Links from Gene

Items: 1 to 100 of 763

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CAMK2B
(L483P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
(A397P +7 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(A351V +2 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CAMK2B
(A446S +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(T328I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
(K323E +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(G159S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CAMK2B
(K138R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
CAMK2B
(L144M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(R404Q +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(T384P +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(I20T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(T338I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
(D364E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CAMK2B
(E371K +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(A161T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(S447F)
Single nucleotide variant
(missense variant +1 more)
CAMK2B-related disorder
GUncertain significance
CAMK2B
(V390fs +7 more)
Duplication
(frameshift variant)
CAMK2B-related disorder
GUncertain significance
CAMK2B
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
CAMK2B
(V272fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CAMK2B
(A438T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
(T307N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
CAMK2B
(G166R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY1, AEBP1
+31 more
Deletion
not provided
GUncertain significance
CAMK2B
Duplication
not provided
GUncertain significance
CAMK2B
Duplication
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
CAMK2B
Deletion
CAMK2B-related disorder
GUncertain significance
CAMK2B
(P474L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GBenign
CAMK2B
(P528S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CAMK2B
(P528A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAMK2B
(S487A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
(G511S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
(P444S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAMK2B
Insertion
(intron variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
(L486P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CAMK2B
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
CAMK2B
(A395S +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
(E384K +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CAMK2B
Insertion
(intron variant)
not provided
GLikely benign
CAMK2B
(V515L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAMK2B
(P474T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
(P514Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
(S447C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
(V479M +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
(R75H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
(R497H +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
CAMK2B
(T347M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GBenign
CAMK2B
(G347E +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CAMK2B
(G366R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
(A434V +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
(E508Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAMK2B
(P526R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAMK2B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CAMK2B
(V500A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
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