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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC52A3
(F457L)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
+4 more
GUncertain significance
SLC52A3
(L442fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SLC52A3
(C432*)
Single nucleotide variant
(nonsense)
Brown-Vialetto-van Laere syndrome 1
Gnot provided
SLC52A3
(V413A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLC52A3
Single nucleotide variant
(splice acceptor variant)
Progressive bulbar palsy of childhood
GPathogenic
SLC52A3
(L350M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SLC52A3
(G330V)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
Gnot provided
SLC52A3
(Y329C)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
Gnot provided
SLC52A3
(P319S)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
Gnot provided
SLC52A3
(A312V)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
GUncertain significance
SLC52A3
(R266W)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
+2 more
GUncertain significance
SLC52A3
(A237V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC52A3
(F224L)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
GPathogenic
SLC52A3
(P220H)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
Gnot provided
SLC52A3
(Y213*)
Single nucleotide variant
(nonsense)
Brown-Vialetto-van Laere syndrome 1
+3 more
GPathogenic
SLC52A3
Insertion
(intron variant)
not provided
+2 more
GBenign
SLC52A3
(R132W)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
GUncertain significance
SLC52A3
(I75T)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
Gnot provided
SLC52A3
(E71K)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
GConflicting classifications of pathogenicity
SLC52A3
(E71*)
Single nucleotide variant
(nonsense)
Brown-Vialetto-van Laere syndrome 1
GPathogenic
SLC52A3
(V58D)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
Gnot provided
SLC52A3
(G54R)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
GUncertain significance
SLC52A3
(E36K)
Single nucleotide variant
(missense variant)
Progressive bulbar palsy of childhood
+2 more
GConflicting classifications of pathogenicity
SLC52A3
(P28T)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
GPathogenic
SLC52A3
(N21S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SLC52A3
(W17R)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 1
GPathogenic
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