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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC30A5
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC30A5
Duplication
(intron variant)
not provided
GBenign
SLC30A5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC30A5
(I104M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLC30A5
(S137T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(L171H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(T193A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(V207I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(V229L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(D230N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(V231I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(V231A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(L240*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SLC30A5
(H242L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(L249V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(I278fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy
+4 more
GLikely pathogenic
SLC30A5
(V288M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(M296T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(K300R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(G305V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(M331V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(R368T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(G376E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(L384V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(S414N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLC30A5
(S447L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(S478F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(Y481C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(G482S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(R483Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC30A5
(H572N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(V608I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(H661fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy
+4 more
GLikely pathogenic
SLC30A5
(I670T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
(I670M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC30A5
(T740A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC30A5
Copy number loss
not provided
GUncertain significance
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