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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC13A5
Single nucleotide variant
(intron variant)
not specified
+2 more
GLikely benign
SLC13A5
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
SLC13A5
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
SLC13A5
(V149M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
SLC13A5
(V15M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
+1 more
GUncertain significance
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