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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLE1
(P2R)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 1
+3 more
GConflicting classifications of pathogenicity
GLE1
(P43S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLE1
(M60V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLE1
(V132I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLE1
Deletion
(intron variant)
not specified
GBenign
GLE1
Deletion
(intron variant)
not specified
GBenign
GLE1
(E192G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLE1
(R227C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
GLE1
(I243V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
GLE1
(D275N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GLE1
(P357A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GLE1, LOC101929270
(S465T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLE1, LOC101929270
Single nucleotide variant
(synonymous variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+2 more
GConflicting classifications of pathogenicity
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