U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC39A14
Single nucleotide variant
(splice acceptor variant)
Hypermanganesemia with dystonia 2
GLikely pathogenic
SLC39A14
Single nucleotide variant
(intron variant)
SLC39A14-related disorder
+3 more
GBenign/Likely benign
SLC39A14
(P446S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SLC39A14
(L33P +1 more)
Single nucleotide variant
(missense variant)
Hypermanganesemia with dystonia 2
+2 more
GBenign
SLC39A14
Single nucleotide variant
(synonymous variant)
Hyperostosis cranialis interna
+2 more
GBenign
SLC39A14
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SLC39A14
(R128W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
SLC39A14
(G356S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC39A14
Single nucleotide variant
(intron variant)
Hypermanganesemia with dystonia 2
GLikely pathogenic
SLC39A14
(G171E)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia 2
Gnot provided
SLC39A14
(Q123* +1 more)
Single nucleotide variant
(nonsense)
Hypermanganesemia with dystonia 2
Gnot provided
SLC39A14
(N469K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(G383R +1 more)
Single nucleotide variant
(missense variant)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(S160fs)
Deletion
(frameshift variant +1 more)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(E105* +1 more)
Single nucleotide variant
(nonsense)
Hypermanganesemia with dystonia 2
GPathogenic
SLC39A14
(F98V +1 more)
Single nucleotide variant
(missense variant)
Hypermanganesemia with dystonia 2
GPathogenic
Format
Items per page
Sort by
Choose Destination