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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACSL4
(K552* +1 more)
Insertion
(nonsense)
Intellectual disability, X-linked 63
GLikely pathogenic
ACSL4
(R529H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACSL4
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 63
GLikely benign
ACSL4
(P334fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, X-linked 63
GUncertain significance
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