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Items: 1 to 100 of 161

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAT
(R32Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
LAT
(V43F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(I18V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Duplication
(intron variant)
not provided
GLikely benign
LAT
Duplication
(intron variant)
not provided
GLikely benign
LAT
Microsatellite
(intron variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(D37N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(S76F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(D78fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GBenign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GBenign
LAT
Single nucleotide variant
(intron variant)
not provided
GBenign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(I85F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(R89Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LAT
(H91Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
(T56M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(P59A +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LAT
(P95R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(P66L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(T68S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(Y70H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(P112L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(L114P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(P82L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LAT
Deletion
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LAT
(R119G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(R129W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAT
(R93Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(T94M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(S95fs +2 more)
Duplication
(frameshift variant)
not provided
GPathogenic
LAT
(R134W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(R98Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LAT
(R135Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Microsatellite
not provided
GUncertain significance
LAT
Duplication
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LAT deficiency
+1 more
GBenign/Likely benign
LAT
(A108V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(E112K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LAT
(D155N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(D119Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(A120V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(D154E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(D162V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LAT
Microsatellite
(intron variant)
not provided
GLikely benign
LAT
Deletion
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LAT
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LAT deficiency
+1 more
GBenign
LAT
(P170L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAT
(T142I +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAT
(A175P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(A145V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
(S149L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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