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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC1A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC1A3
(R23H)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+1 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
+2 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
Episodic ataxia type 6
+2 more
GBenign
SLC1A3
(R69Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A3
(Y71C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC1A3
(R76Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not specified
GBenign
SLC1A3
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
SLC1A3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SLC1A3
(M108V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SLC1A3
(M121I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
(E107D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC1A3
(F141Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A3
(R197K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SLC1A3
(S152N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A3
(A205T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A3
(E219D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
SLC1A3
(R226G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
SLC1A3
(E229K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC1A3
(I211T +1 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
+1 more
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
SLC1A3
(A220T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
SLC1A3
(R268K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC1A3
(G196S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
(L202I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC1A3
(A329T +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+2 more
GConflicting classifications of pathogenicity
SLC1A3
(I237T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC1A3
(I357V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
+1 more
GBenign/Likely benign
SLC1A3
(V270M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC1A3
(R385H +2 more)
Single nucleotide variant
(missense variant)
Spastic ataxia
+2 more
GBenign/Likely benign
SLC1A3
(E374G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
(I315V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
(I429V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC1A3
(A470T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC1A3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
SLC1A3
(R479W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
(V484I +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC1A3
(L373V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SLC1A3
(S538C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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