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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC52A2
(D186N)
Single nucleotide variant
(missense variant +2 more)
Brown-Vialetto-van Laere syndrome 2
GUncertain significance
SLC52A2
(A237P +1 more)
Single nucleotide variant
(missense variant +1 more)
Brown-Vialetto-van Laere syndrome 2
GUncertain significance
SLC52A2
(Y269C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SLC52A2
(V373G +1 more)
Single nucleotide variant
(missense variant +1 more)
Brown-Vialetto-van Laere syndrome 2
GUncertain significance
SLC52A2
(A420V +1 more)
Single nucleotide variant
(missense variant +1 more)
Brown-Vialetto-van Laere syndrome 2
GUncertain significance
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