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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC30A10
(S46Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
(L131R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GLikely pathogenic
SLC30A10
(T85I)
Single nucleotide variant
(missense variant)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
(G161V)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(synonymous variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GLikely benign
SLC30A10
Single nucleotide variant
(synonymous variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+1 more
GConflicting classifications of pathogenicity
SLC30A10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC30A10
(G404R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
(F22L)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
(H336Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GConflicting classifications of pathogenicity
SLC30A10
Deletion
(frameshift 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
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GLikely benign
SLC30A10
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(intron variant +2 more)
not provided
+1 more
GBenign
SLC30A10
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(5 prime UTR variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
(L26V)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
(T95I)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+2 more
GConflicting classifications of pathogenicity
SLC30A10
(G147A)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(synonymous variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+2 more
GBenign
SLC30A10
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SLC30A10
(M226V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+1 more
GUncertain significance
SLC30A10
Single nucleotide variant
(intron variant)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+2 more
GConflicting classifications of pathogenicity
SLC30A10
(A303T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
SLC30A10
Single nucleotide variant
(synonymous variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
(A373E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+1 more
GConflicting classifications of pathogenicity
SLC30A10
(P417A +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(synonymous variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+1 more
GBenign/Likely benign
SLC30A10
Single nucleotide variant
(synonymous variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
+1 more
GConflicting classifications of pathogenicity
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GUncertain significance
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GBenign
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GLikely benign
SLC30A10
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GBenign
SLC30A10
Deletion
(3 prime UTR variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GBenign
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
(F167S)
Single nucleotide variant
(missense variant +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
(L349P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Gnot provided
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
(P170fs)
Deletion
(frameshift variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
SLC30A10
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
SLC30A10
(L89P)
Single nucleotide variant
(missense variant +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
SLC30A10
Deletion
(inframe_deletion +2 more)
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
GPathogenic
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