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Items: 1 to 100 of 2095

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
LOC130058535, LOC130058536
+916 more
Copy number gain
See cases
GPathogenic
LOC105371046, LOC105371050
+842 more
Copy number gain
See cases
GPathogenic
LOC130058149, LOC130058150
+925 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+851 more
Copy number gain
See cases
GPathogenic
LOC112486224, LOC112486225
+58 more
Copy number gain
See cases
GUncertain significance
LOC130058406, LOC130058407
+33 more
Copy number loss
Autism spectrum disorder
GPathogenic
GRIN2A, HAPSTR1
+21 more
Copy number gain
See cases
GLikely pathogenic
GRIN2A, LOC130058418
Deletion
Landau-Kleffner syndrome
GLikely pathogenic
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Insertion
(3 prime UTR variant)
Landau-Kleffner syndrome
GLikely benign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
+1 more
GBenign
GRIN2A
Deletion
(3 prime UTR variant)
not provided
GLikely benign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Deletion
(3 prime UTR variant)
Landau-Kleffner syndrome
GLikely benign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Deletion
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Microsatellite
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Deletion
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Deletion
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Duplication
(3 prime UTR variant)
Landau-Kleffner syndrome
GUncertain significance
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
GRIN2A
Single nucleotide variant
(3 prime UTR variant)
Landau-Kleffner syndrome
GBenign
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