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Items: 1 to 100 of 267

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932075, LOC129932076
+560 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
ABL2, ACBD6
+347 more
Copy number loss
See cases
GPathogenic
ANGPTL1, APOBEC4
+455 more
Copy number loss
See cases
GPathogenic
LOC129388668, LOC129388669
+477 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Duplication
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Indel
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Insertion
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Deletion
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Deletion
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Microsatellite
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Microsatellite
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Duplication
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Microsatellite
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely benign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GBenign
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Duplication
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Single nucleotide variant
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
Duplication
(3 prime UTR variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
(P368S)
Single nucleotide variant
(missense variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
(E367G)
Single nucleotide variant
(missense variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
(G365S)
Single nucleotide variant
(missense variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
(N362S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GLUL
(N362D)
Single nucleotide variant
(missense variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GUncertain significance
GLUL
(C359G)
Single nucleotide variant
(missense variant)
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLikely pathogenic
GLUL
Single nucleotide variant
(synonymous variant)
GLUL-related disorder
GLikely benign
GLUL
(R357C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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