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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
(K437I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(K318T +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALDH18A1
(L289V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(V451M +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ALDH18A1
(V339I +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALDH18A1
(G304V +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ALDH18A1
(D178V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(P106R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(L100F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALDH18A1
(R200C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ALDH18A1
(R84Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH18A1
(R55H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ALDH18A1
(R41C)
Single nucleotide variant
(missense variant +1 more)
de Barsy syndrome
+3 more
GUncertain significance
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