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Items: 1 to 100 of 897

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABTB2, ANO3
+283 more
Copy number loss
See cases
GPathogenic
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
DCDC1, DNAJC24
+15 more
Copy number loss
See cases
GPathogenic
ELP4, LOC105980003
+8 more
Copy number loss
See cases
GPathogenic
ELP4, LINC03031
+23 more
Copy number gain
See cases
GPathogenic
ELP4, LINC03031
+19 more
Copy number gain
See cases
GUncertain significance
LOC126861176, ELP4
+5 more
Deletion
Aniridia 1
+1 more
GPathogenic
LOC106014249, LOC126861176
+5 more
Deletion
Congenital aniridia
GPathogenic
ELP4, LINC03031
+22 more
Copy number gain
See cases
GUncertain significance
ELP4, LOC126861176
+1 more
Copy number loss
See cases
GPathogenic
ELP4, LINC03031
+14 more
Copy number gain
See cases
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+7 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Indel
(3 prime UTR variant)
Irido-corneo-trabecular dysgenesis
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
carboxymethyl-dextran-A2-gadolinium-DOTA
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+6 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Deletion
(3 prime UTR variant)
Aniridia 1
+1 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+6 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Congenital aniridia
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+7 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+7 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Deletion
(3 prime UTR variant)
Anophthalmia
+7 more
GBenign
ELP4, PAX6
Microsatellite
(3 prime UTR variant)
Anophthalmia
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+7 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+5 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Insertion
(3 prime UTR variant)
11p partial monosomy syndrome
+7 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
carboxymethyl-dextran-A2-gadolinium-DOTA
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+7 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
carboxymethyl-dextran-A2-gadolinium-DOTA
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+7 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+6 more
GLikely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+7 more
GBenign/Likely benign
ELP4, PAX6
Duplication
(3 prime UTR variant)
not provided
+7 more
GBenign
ELP4, PAX6
Deletion
(3 prime UTR variant)
Anophthalmia
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign
ELP4, PAX6
Deletion
(3 prime UTR variant)
Anophthalmia
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+5 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+7 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
not provided
+8 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
carboxymethyl-dextran-A2-gadolinium-DOTA
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+7 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+6 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
carboxymethyl-dextran-A2-gadolinium-DOTA
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
carboxymethyl-dextran-A2-gadolinium-DOTA
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
11p partial monosomy syndrome
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant keratitis
+4 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
not provided
+7 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Aniridia 1
+6 more
GBenign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Foveal hypoplasia 1
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant)
Anophthalmia-microphthalmia syndrome
+6 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
Aniridia, Cerebellar Ataxia, And Intellectual Disability
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+6 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
Aniridia, Cerebellar Ataxia, And Intellectual Disability
+6 more
GConflicting classifications of pathogenicity
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
Anophthalmia-microphthalmia syndrome
+3 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant keratitis
+6 more
GBenign/Likely benign
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
Foveal hypoplasia 1
+7 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
Foveal hypoplasia 1
+7 more
GConflicting classifications of pathogenicity
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