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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC52A2
(W31S)
Single nucleotide variant
(missense variant)
Brown-Vialetto-van Laere syndrome 2
Gnot provided
SLC52A2
(S52F)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
SLC52A2
(L123P)
Single nucleotide variant
(missense variant +2 more)
Brown-Vialetto-van Laere syndrome 2
GPathogenic
SLC52A2
(Q234* +1 more)
Single nucleotide variant
(nonsense +1 more)
Brown-Vialetto-van Laere syndrome 2
Gnot provided
SLC52A2
(A284D +1 more)
Single nucleotide variant
(missense variant +1 more)
Brown-Vialetto-van Laere syndrome 2
GPathogenic
SLC52A2
(Y305C +1 more)
Single nucleotide variant
(missense variant +1 more)
Brown-Vialetto-van Laere syndrome 2
GPathogenic
SLC52A2
(G306R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
SLC52A2
(L312P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
SLC52A2
(L339P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
SLC52A2
(G419S +1 more)
Single nucleotide variant
(missense variant +1 more)
Brown-Vialetto-van Laere syndrome 2
GUncertain significance
SLC52A2
(A420T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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