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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
(E430K +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+5 more
GUncertain significance
ALDH18A1
(R138W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic