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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC13A3
(R546Q +4 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
+1 more
GUncertain significance
SLC13A3
(S271N +3 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
+1 more
GUncertain significance