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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC39A14
(Q45R +1 more)
Single nucleotide variant
(missense variant)
Hyperostosis cranialis interna
GUncertain significance
SLC39A14
(G434E +1 more)
Single nucleotide variant
(missense variant)
Hyperostosis cranialis interna
GUncertain significance
SLC39A14
Single nucleotide variant
(intron variant)
SLC39A14-related disorder
+3 more
GBenign/Likely benign
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
(L441R +1 more)
Single nucleotide variant
(missense variant)
Hyperostosis cranialis interna
GPathogenic
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