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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAMK2A
(P182L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GUncertain significance
CAMK2A
(R259C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GLikely pathogenic
CAMK2A
(W462* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 53
GUncertain significance
CAMK2A
(L252P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GLikely pathogenic
CAMK2A
(E139Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GLikely pathogenic
CAMK2A
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 53
GUncertain significance
CAMK2A
(Y222*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 53
GPathogenic
CAMK2A
(A295D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GConflicting classifications of pathogenicity
CAMK2A
(R28*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 53
+1 more
GConflicting classifications of pathogenicity
CAMK2A
Deletion
(inframe_deletion)
Intellectual disability, autosomal dominant 53
GLikely pathogenic
CAMK2A
(D238H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GUncertain significance
CAMK2A
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 53
GUncertain significance
CAMK2A
(G20D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GLikely pathogenic
CAMK2A
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 63
+1 more
GBenign
CAMK2A
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 63
+1 more
GBenign
CAMK2A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CAMK2A
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 63
+1 more
GBenign
CAMK2A
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 63
+1 more
GBenign
CAMK2A
(G175A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GLikely pathogenic
CAMK2A
(R74*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CAMK2A
(A110V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GLikely pathogenic
CAMK2A
(E17K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
+1 more
GLikely pathogenic
CAMK2A
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 53
GPathogenic
CAMK2A
(P212Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
GPathogenic
CAMK2A
(T286P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
+1 more
GPathogenic
CAMK2A
(H282R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
+1 more
GPathogenic
CAMK2A
(P212L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CAMK2A
(E183V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
+1 more
GPathogenic
CAMK2A
(E109D)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GPathogenic
CAMK2A
(F98S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 53
+1 more
GPathogenic
CAMK2A
(P235L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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