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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388752, SLC30A10
Deletion
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
SLC30A10
(Q412fs +1 more)
Deletion
(frameshift variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
SLC30A10
(L349P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
(H336Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GConflicting classifications of pathogenicity
SLC30A10
(Q308* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
(V193del)
Deletion
(inframe_deletion +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
SLC30A10
Deletion
(frameshift variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
(P170fs)
Deletion
(frameshift variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
SLC30A10
(F167S)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
(G165fs)
Deletion
(frameshift variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
(Q154*)
Single nucleotide variant
(nonsense +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
Deletion
(inframe_deletion +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
SLC30A10
Deletion
(inframe_deletion +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
SLC30A10
(L89P)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
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