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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC10A1
(C344S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(E342K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC10A1
(G332R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(M319I)
Single nucleotide variant
(missense variant)
SLC10A1-related condition
+1 more
GConflicting classifications of pathogenicity
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(I303V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC10A1
(Q293E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC10A1
(M290I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(M290R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(M290V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A1
(G280V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A1
(I279T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(F274S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(N271S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(S267F)
Single nucleotide variant
(missense variant)
not specified
GBenign
SLC10A1
(C260R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(M256R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(R252H)
Single nucleotide variant
(missense variant)
Hypercholanemia, familial, 2
+2 more
GConflicting classifications of pathogenicity
SLC10A1
(R252S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SLC10A1
Deletion
(intron variant)
not provided
GUncertain significance
SLC10A1
(R249Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(R249W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(F234L)
Single nucleotide variant
(missense variant)
SLC10A1-related condition
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(L222fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A1
(T203fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
SLC10A1
(V202I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(V200E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A1
(L196P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(I195L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A1
(M192R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
SLC10A1-related condition
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(V187L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC10A1
(R185C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(P181T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(G173A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(G173R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(I172T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A1
(T171I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(P169L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(I168T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(I161L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(G158D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(G158S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SLC10A1
(Y146C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(I120T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(D115Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(D115N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(G114R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(S99L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(C98Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(I88T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A1
(G60R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A1
(C44*)
Single nucleotide variant
(nonsense)
SLC10A1-related condition
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(S41L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A1
(F37L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(F36L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(L35*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC10A1
(V29I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC10A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC10A1
(R21C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC10A1
(F12fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
SLC10A1
(A6T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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