U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
GLE1, LOC101929270
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GLE1, LOC101929270
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1, LOC101929270
(R462C)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GUncertain significance
GLE1
(V380A)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GUncertain significance
GLE1
(R316W)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 1
+1 more
GUncertain significance
GLE1
(E234K)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GUncertain significance
GLE1
(E163Q)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GUncertain significance
GLE1
(K127T)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GUncertain significance
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1, LOC101929270
(A658S)
Single nucleotide variant
(missense variant +1 more)
Lethal arthrogryposis-anterior horn cell disease syndrome
+2 more
GConflicting classifications of pathogenicity
GLE1, LOC101929270
Single nucleotide variant
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+2 more
GConflicting classifications of pathogenicity
GLE1
(R246Q)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
(E240G)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
LOC101929270, GLE1
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
LOC101929270, GLE1
(D518E)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
(A498G)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(synonymous variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
(V466I)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
(M191I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GLE1
(S162L)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 1
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(intron variant)
Lethal congenital contracture syndrome 1
+2 more
GConflicting classifications of pathogenicity
GLE1
(P370L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GLE1
(R26G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal congenital contracture syndrome 1
+1 more
GUncertain significance
GLE1
(R316Q)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 1
+1 more
GUncertain significance
GLE1
(E310K)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(5 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(intron variant)
Lethal congenital contracture syndrome 1
+2 more
GConflicting classifications of pathogenicity
GLE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLE1, LOC101929270
Single nucleotide variant
(synonymous variant)
Lethal congenital contracture syndrome 1
+2 more
GBenign/Likely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1, LOC101929270
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(C39Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
GLE1, LOC101929270
(R584W)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GLikely pathogenic
GLE1, LOC101929270
(S693F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
GLE1
Deletion
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GPathogenic
GLE1, LOC101929270
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GBenign
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal congenital contracture syndrome 1
+1 more
GBenign
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal congenital contracture syndrome 1
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal congenital contracture syndrome 1
+1 more
GBenign
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal congenital contracture syndrome 1
+2 more
GBenign
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC101929270
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
GLE1, LOC101929270
Single nucleotide variant
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
(A250V)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
GLE1
Single nucleotide variant
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
(D18E)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(5 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(5 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC130002710
Single nucleotide variant
(5 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC130002710
Single nucleotide variant
(5 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1, LOC130002710
Single nucleotide variant
(5 prime UTR variant)
Lethal congenital contracture syndrome 1
+1 more
GUncertain significance
GLE1, LOC101929270
(S465T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLE1
(P2R)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 1
+2 more
GConflicting classifications of pathogenicity
GLE1
(R227C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
GLE1
(D275N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GLE1, LOC101929270
Single nucleotide variant
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+3 more
GBenign
GLE1
Single nucleotide variant
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+3 more
GBenign
GLE1
(E334K)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+3 more
GBenign/Likely benign
GLE1
(I243V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
GLE1, LOC101929270
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLE1, LOC101929270
(I684T)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GPathogenic
GLE1, LOC101929270
(V617M)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GPathogenic
GLE1, LOC101929270
(R569H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
GLE1
Single nucleotide variant
(intron variant)
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination