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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC13A3
(P395L +4 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
GLikely pathogenic
SLC13A3
(P29L)
Single nucleotide variant
(missense variant +2 more)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
+2 more
GUncertain significance
SLC13A3
(N504S +4 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
+2 more
GUncertain significance
SLC13A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
SLC13A3
Single nucleotide variant
(synonymous variant)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
+2 more
GBenign
SLC13A3
(S271N +3 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
+1 more
GUncertain significance
SLC13A3
Single nucleotide variant
(intron variant)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
+1 more
GConflicting classifications of pathogenicity
SLC13A3
(G548S +4 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
GPathogenic
SLC13A3
(A254D +3 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
GPathogenic
SLC13A3
(R546Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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