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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH5A1
(P422S +2 more)
Single nucleotide variant
(missense variant)
Succinate-semialdehyde dehydrogenase deficiency
+1 more
GUncertain significance
ALDH5A1
Single nucleotide variant
(splice donor variant)
See cases
+2 more
GPathogenic/Likely pathogenic