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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR2E3
Deletion
(intron variant)
not provided
GUncertain significance
NR2E3
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+11 more
GPathogenic/Likely pathogenic
NR2E3
(G56R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NR2E3
(G69S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NR2E3
(R77Q)
Single nucleotide variant
(missense variant)
Enhanced S-cone syndrome
+2 more
GUncertain significance
NR2E3
Single nucleotide variant
(intron variant)
Enhanced S-cone syndrome
+3 more
GBenign/Likely benign
NR2E3
(E140G)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NR2E3
(M163T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NR2E3
(A175G)
Single nucleotide variant
(missense variant)
Enhanced S-cone syndrome
+3 more
GUncertain significance
NR2E3
Single nucleotide variant
(synonymous variant)
Enhanced S-cone syndrome
+5 more
GConflicting classifications of pathogenicity
NR2E3
(V302I)
Single nucleotide variant
(missense variant)
Enhanced S-cone syndrome
+4 more
GBenign
NR2E3
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
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