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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC39A14
(F98V +1 more)
Single nucleotide variant
(missense variant)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(E105* +1 more)
Single nucleotide variant
(nonsense)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(Q123* +1 more)
Single nucleotide variant
(nonsense)
Hypermanganesemia with dystonia 2
Gnot provided
SLC39A14
(S160fs)
Deletion
(frameshift variant +1 more)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(G171E)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia 2
Gnot provided
SLC39A14
Single nucleotide variant
(intron variant)
Hypermanganesemia with dystonia 2
GLikely pathogenic
SLC39A14
(G383R +1 more)
Single nucleotide variant
(missense variant)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(N469K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia 2
GPathogenic
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