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Items: 1 to 100 of 700

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
AK1, ANGPTL2
+250 more
Copy number loss
See cases
GPathogenic
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
LOC130002653, LOC130002654
+130 more
Deletion
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
+1 more
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
CERCAM, COQ4
+70 more
Copy number loss
See cases
GPathogenic
GLE1, LOC130002710
Single nucleotide variant
not provided
GLikely benign
GLE1, LOC130002710
Single nucleotide variant
not provided
GLikely benign
GLE1, LOC130002710
Single nucleotide variant
(5 prime UTR variant)
Lethal congenital contracture syndrome 1
+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
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
Single nucleotide variant
(5 prime UTR variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
(P2R)
Single nucleotide variant
(missense variant)
GLE1-related disorder
+3 more
GConflicting classifications of pathogenicity
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(D18E)
Single nucleotide variant
(missense variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(R26G)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 1
+2 more
GUncertain significance
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(E33fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GLE1
(E33*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Deletion
(intron variant)
not provided
GBenign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
GLE1, LOC130002711
Single nucleotide variant
(intron variant)
not provided
GBenign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Deletion
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
GPathogenic
GLE1
(D34N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(E38*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GLE1
(M40fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
GLE1
(C39Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
GLE1
(P43S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(W51*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GLE1
(W51*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GLE1
Deletion
(nonsense)
not provided
GPathogenic
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(V56I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(M60V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(S67fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
GLE1-related disorder
+1 more
GBenign/Likely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(Q81*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLE1
(T106A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GLE1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+1 more
GUncertain significance
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLE1
Deletion
(intron variant)
not provided
+1 more
GBenign
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