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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELOVL4
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ELOVL4
(P72fs)
Deletion
(frameshift variant)
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
+1 more
GConflicting classifications of pathogenicity
ELOVL4
Single nucleotide variant
(splice acceptor variant)
ELOVL4-Related Disorders
GLikely pathogenic
ELOVL4
(N117K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ELOVL4
(L168F)
Single nucleotide variant
(missense variant)
ELOVL4-Related Disorders
+3 more
GPathogenic
ELOVL4
(M299V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
ELOVL4
(E272Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ELOVL4
(I230fs)
Deletion
(frameshift variant)
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
GPathogenic
ELOVL4
(R216*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
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