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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(synonymous variant)
ALDH18A1-related de Barsy syndrome
+5 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal dominant spastic paraplegia type 9
+6 more
GBenign/Likely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
ALDH18A1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign
ALDH18A1
(I473V +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant spastic paraplegia type 9
+3 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant spastic paraplegia type 9
+5 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+1 more
GLikely benign
ALDH18A1
(S372Y +5 more)
Single nucleotide variant
(missense variant)
ALDH18A1-related de Barsy syndrome
+8 more
GBenign
ALDH18A1
(R159* +5 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia
GLikely pathogenic
ALDH18A1
(G134R +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign
ALDH18A1
(V113I +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GUncertain significance
ALDH18A1
(L283F +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
GUncertain significance
ALDH18A1
(K131R +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GUncertain significance
ALDH18A1
(A184V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ALDH18A1
(G165R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant spastic paraplegia type 9
+5 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal dominant spastic paraplegia type 9
+3 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
ALDH18A1
(S65I)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+5 more
GUncertain significance
ALDH18A1
(H30Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia
+2 more
GBenign/Likely benign
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