U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC1A3
(R367Q +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(T179I +1 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(I100T)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(N135S +1 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(R230Q +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+1 more
GUncertain significance
SLC1A3
(A110V +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(T354M +2 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
+1 more
GUncertain significance
SLC1A3
(V270M +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+1 more
GUncertain significance
SLC1A3
(G113D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC1A3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC1A3
(P70R)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
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
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(intron variant)
Episodic ataxia type 6
+1 more
GBenign
SLC1A3
(V319M +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
GBenign
SLC1A3
(M307I +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(V171A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A3
(I214T +1 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(5 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(5 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SLC1A3
(L209V +1 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
+1 more
GUncertain significance
SLC1A3
(R23H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SLC1A3
(F170L +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+1 more
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
+1 more
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
+1 more
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 6
GBenign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
Episodic ataxia type 6
+1 more
GBenign
SLC1A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(R385H +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+2 more
GBenign/Likely benign
SLC1A3
(A329T +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
+2 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
+1 more
GBenign
SLC1A3
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(intron variant)
Episodic ataxia type 6
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
Episodic ataxia type 6
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
Episodic ataxia type 6
+2 more
GBenign/Likely benign
SLC1A3
(R226G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
SLC1A3
(V201M +1 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
GUncertain significance
SLC1A3
(V125A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC1A3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SLC1A3
(R76Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A3
(Y71C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC1A3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
SLC1A3
(L27F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SLC1A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SLC1A3
(R454Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC1A3
(K10E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC1A3
(E219D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
SLC1A3
(C186S +1 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 6
GPathogenic
SLC1A3
(P290R +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 6
GPathogenic
Format
Items per page
Sort by
Choose Destination