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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAMK2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(P523S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal dominant 54
GLikely pathogenic
CAMK2B
(A111P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(E330Q +6 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
+1 more
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(P515L +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CAMK2B
(D396H +7 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(V288fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CAMK2B
(P437fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GUncertain significance
CAMK2B
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(I525V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CAMK2B
(T254S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
GLikely benign
CAMK2B
(T8N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 54
+1 more
GBenign/Likely benign
CAMK2B
Single nucleotide variant
(synonymous variant +1 more)
CAMK2B-related condition
+2 more
GBenign/Likely benign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CAMK2B
(V609I +7 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
+1 more
GUncertain significance
CAMK2B
(E467K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CAMK2B
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal dominant 54
+1 more
GConflicting classifications of pathogenicity
CAMK2B
(P448L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
Single nucleotide variant
(intron variant +1 more)
Intellectual disability, autosomal dominant 54
+1 more
GUncertain significance
CAMK2B
Duplication
(intron variant)
Intellectual disability, autosomal dominant 54
GBenign
CAMK2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 54
+1 more
GBenign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CAMK2B
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 54
GBenign
CAMK2B
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 54
GBenign
CAMK2B
Duplication
(intron variant)
Intellectual disability, autosomal dominant 54
GBenign
CAMK2B
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 54
GBenign
CAMK2B
Single nucleotide variant
(synonymous variant)
CAMK2B-related condition
+2 more
GBenign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CAMK2B
Duplication
(intron variant)
Intellectual disability, autosomal dominant 54
GBenign
CAMK2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CAMK2B
(R66H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(G335fs +6 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 54
GUncertain significance
CAMK2B
(R284S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
GPathogenic
CAMK2B
(P213L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CAMK2B
(K301E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
CAMK2B
(E237K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CAMK2B
(P139L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 54
+3 more
GPathogenic/Likely pathogenic
CAMK2B
(E110K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CAMK2B
(R29*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 54
+1 more
GPathogenic
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