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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH5A1, LOC129995978
Duplication
(inframe_insertion)
Succinate-semialdehyde dehydrogenase deficiency
GLikely pathogenic
ALDH5A1
(W204*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic