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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC13A5
(F535I +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(R344G +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(R184W +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
+1 more
GUncertain significance
SLC13A5
(V109M +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(V98M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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