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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EEF1A2
(M429R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+1 more
GUncertain significance
EEF1A2
(I320V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+1 more
GUncertain significance
EEF1A2
(V289A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
GLikely benign
EEF1A2
(K460R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
GUncertain significance
EEF1A2
(R218H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+1 more
GUncertain significance
EEF1A2
(C111Y)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+2 more
GConflicting classifications of pathogenicity
EEF1A2
(A223T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+2 more
GConflicting classifications of pathogenicity
EEF1A2
(V16A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
GLikely pathogenic
EEF1A2
(G449S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 33
+2 more
GUncertain significance
EEF1A2
(I379T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+1 more
GConflicting classifications of pathogenicity
EEF1A2
(T432M)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+2 more
GPathogenic/Likely pathogenic
EEF1A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
LOC132090595, EEF1A2
(I178F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+1 more
GUncertain significance
EEF1A2
(P274L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+1 more
GLikely pathogenic
EEF1A2
(R266W)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+5 more
GConflicting classifications of pathogenicity
EEF1A2
(T24M)
Single nucleotide variant
(missense variant)
EEF1A2-related disorder
+4 more
GConflicting classifications of pathogenicity
EEF1A2
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 38
+2 more
GBenign/Likely benign
EEF1A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
EEF1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
EEF1A2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
EEF1A2
(E124K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
EEF1A2
(D91N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+3 more
GPathogenic
EEF1A2
(E122K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+4 more
GPathogenic/Likely pathogenic
EEF1A2
(D252H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 38
+1 more
GConflicting classifications of pathogenicity
EEF1A2
(G70S)
Single nucleotide variant
(missense variant)
EEF1A2-related disorder
+6 more
GPathogenic
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