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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC27A4
(H290Y)
Single nucleotide variant
(missense variant)
Ichthyosis prematurity syndrome
GUncertain significance
SLC27A4
(Q300R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC27A4
(R504C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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