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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELP4, PAX6
(K387* +4 more)
Single nucleotide variant
(3 prime UTR variant +3 more)
Congenital ocular coloboma
+8 more
GConflicting classifications of pathogenicity
ELP4, PAX6
(C364* +13 more)
Duplication
(3 prime UTR variant +3 more)
not provided
GPathogenic
PAX6
Single nucleotide variant
(synonymous variant +2 more)
11p partial monosomy syndrome
+8 more
GConflicting classifications of pathogenicity
PAX6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PAX6
Single nucleotide variant
(synonymous variant +1 more)
PAX6-related condition
+4 more
GConflicting classifications of pathogenicity
PAX6
(D319N +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PAX6
(T251fs +9 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
PAX6
(I313fs +9 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+10 more
GConflicting classifications of pathogenicity
ELP4, PAX6
(R208W +9 more)
Single nucleotide variant
(missense variant +1 more)
Foveal hypoplasia 1
+4 more
GPathogenic/Likely pathogenic
PAX6
(R203* +9 more)
Single nucleotide variant
(nonsense +1 more)
Irido-corneo-trabecular dysgenesis
+2 more
GPathogenic
PAX6
(N193D +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PAX6
(G161fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
PAX6
Deletion
(genic upstream transcript variant)
Irido-corneo-trabecular dysgenesis
+2 more
GPathogenic
PAX6
Single nucleotide variant
(5 prime UTR variant +2 more)
Aniridia 1
+3 more
GPathogenic
PAX6
(V78A +5 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
PAX6
(N50K +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX6
Single nucleotide variant
(synonymous variant +3 more)
PAX6-related condition
+3 more
GBenign/Likely benign
PAX6
(D41H +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
PAX6
(G18R +2 more)
Single nucleotide variant
(missense variant +3 more)
PAX6-related disorder
+3 more
GPathogenic/Likely pathogenic
PAX6
(V16fs +2 more)
Deletion
(frameshift variant +3 more)
not provided
GPathogenic
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