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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELOVL4
(E272Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ELOVL4
(L168F)
Single nucleotide variant
(missense variant)
Stargardt disease 3
+3 more
GPathogenic
ELOVL4
(N117K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
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