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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FABP3
Deletion
(intron variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
SLC27A3
Single nucleotide variant
(intron variant)
not provided
Gnot provided
FABP5
(N124S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
SLC27A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC27A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC27A4
(V413M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC27A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC27A4
(R502*)
Single nucleotide variant
(nonsense)
Lamellar ichthyosis
+1 more
GPathogenic/Likely pathogenic
SLC27A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC27A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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