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Links from Gene

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELP2
(T469M +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELP2
(C338fs +8 more)
Duplication
(frameshift variant +1 more)
Intellectual disability, autosomal recessive 58
GLikely pathogenic
ELP2
(D664V +8 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 58
GUncertain significance
ELP2
(C597fs +8 more)
Deletion
(frameshift variant +1 more)
Intellectual disability, autosomal recessive 58
GLikely pathogenic
ELP2
(G149C +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability, autosomal recessive 58
GUncertain significance
ELP2
(W492* +8 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, autosomal recessive 58
GUncertain significance
ELP2
(V625fs +8 more)
Deletion
(frameshift variant +1 more)
Intellectual disability, autosomal recessive 58
GLikely pathogenic
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