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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
(N14S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive complex spastic paraplegia type 9B
+1 more
GUncertain significance
ALDH18A1
(V352A +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive complex spastic paraplegia type 9B
GUncertain significance
ALDH18A1
(I432N +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive complex spastic paraplegia type 9B
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 9A
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(A282V +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive complex spastic paraplegia type 9B
GLikely pathogenic
ALDH18A1
(V321fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive complex spastic paraplegia type 9B
GLikely pathogenic
ALDH18A1
Single nucleotide variant
(synonymous variant)
Autosomal recessive complex spastic paraplegia type 9B
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal recessive complex spastic paraplegia type 9B
+4 more
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal recessive complex spastic paraplegia type 9B
GUncertain significance
ALDH18A1
(S469R +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 9A
+4 more
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 9A
+4 more
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal recessive complex spastic paraplegia type 9B
+4 more
GBenign
ALDH18A1
(H57N)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 9A
+3 more
GUncertain significance
ALDH18A1
(V451M +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 9A
+3 more
GUncertain significance
ALDH18A1
(P648S +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 9A
+2 more
GUncertain significance
ALDH18A1
(D623N +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 9A
+5 more
GUncertain significance
ALDH18A1
(T331P +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive complex spastic paraplegia type 9B
+3 more
GConflicting classifications of pathogenicity
ALDH18A1
(S372Y +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+6 more
GBenign
ALDH18A1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+6 more
GBenign/Likely benign
ALDH18A1
(T299I +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 9A
+5 more
GBenign
ALDH18A1
(R128H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 9A
+3 more
GUncertain significance
ALDH18A1
(L637P +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive complex spastic paraplegia type 9B
GPathogenic
ALDH18A1
(D715H +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 9A
+2 more
GLikely pathogenic
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