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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
(R765Q +5 more)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
+4 more
GConflicting classifications of pathogenicity
ALDH18A1
(R636Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ALDH18A1
(R138W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
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