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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
(R370H +5 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
ALDH18A1
(T331P +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive complex spastic paraplegia type 9B
+6 more
GConflicting classifications of pathogenicity