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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH5A1, GPLD1
+1 more
(S17L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ALDH5A1, GPLD1
+1 more
(C46Y)
Single nucleotide variant
(missense variant)
Succinate-semialdehyde dehydrogenase deficiency
GUncertain significance