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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH3A2
Single nucleotide variant
(splice donor variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(L208P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ALDH3A2
(K254E +1 more)
Single nucleotide variant
(missense variant +1 more)
ALDH3A2-related disorder
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
(W257* +1 more)
Single nucleotide variant
(nonsense +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
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