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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH5A1, GPLD1
+1 more
(C4G)
Single nucleotide variant
(missense variant)
ALDH5A1-related condition
+3 more
GBenign/Likely benign
ALDH5A1, GPLD1
+1 more
(G11E)
Single nucleotide variant
(missense variant)
Succinate-semialdehyde dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ALDH5A1, GPLD1
+1 more
(S17L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ALDH5A1, GPLD1
+1 more
Single nucleotide variant
(synonymous variant)
ALDH5A1-related condition
+2 more
GConflicting classifications of pathogenicity
ALDH5A1, GPLD1
+1 more
(G36R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
ALDH5A1, GPLD1
+1 more
(A38V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALDH5A1, GPLD1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH5A1, GPLD1
+1 more
(A52T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALDH5A1, GPLD1
+1 more
Single nucleotide variant
(synonymous variant)
Succinate-semialdehyde dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
LOC129995978, ALDH5A1
+1 more
(S63I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ALDH5A1, LOC129995978
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ALDH5A1, LOC129995978
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH5A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ALDH5A1
Single nucleotide variant
(synonymous variant)
Succinate-semialdehyde dehydrogenase deficiency
+2 more
GBenign/Likely benign
ALDH5A1
(H180Y)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ALDH5A1
(P182L)
Single nucleotide variant
(missense variant)
ALDH5A1-related condition
+3 more
GBenign
ALDH5A1
Single nucleotide variant
(synonymous variant)
Succinate-semialdehyde dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ALDH5A1
(V197M)
Single nucleotide variant
(missense variant)
Succinate-semialdehyde dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
ALDH5A1
(T202I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH5A1
(A237S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ALDH5A1
(V321M +2 more)
Single nucleotide variant
(missense variant)
ALDH5A1-related condition
+3 more
GConflicting classifications of pathogenicity
ALDH5A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH5A1
(V413I +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ALDH5A1
(N440S +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ALDH5A1
(H436Q +2 more)
Single nucleotide variant
(missense variant)
Seizure
+2 more
GUncertain significance
ALDH5A1
(P442fs +2 more)
Duplication
(frameshift variant)
Succinate-semialdehyde dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ALDH5A1
(D463N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ALDH5A1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ALDH5A1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
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