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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
(V352A +5 more)
Single nucleotide variant
(missense variant)
Autosomal dominant spastic paraplegia type 9
+4 more
GUncertain significance
ALDH18A1
(A333T +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALDH18A1
(R159Q +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+4 more
GUncertain significance
ALDH18A1
(V339I +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALDH18A1
(G237R +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALDH18A1
(E197Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ALDH18A1
(A184V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
ALDH18A1
(T25A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
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