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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUCY2D
(C17R)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GUncertain significance
GUCY2D
(L41F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GUCY2D
(A52S)
Single nucleotide variant
(missense variant)
Night blindness, congenital stationary, type1i
+5 more
GBenign
GUCY2D
(P130fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
GUCY2D
(E254*)
Single nucleotide variant
(nonsense)
Choroidal dystrophy, central areolar, 1
+3 more
GPathogenic/Likely pathogenic
GUCY2D
(V361M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
GUCY2D
(D558N)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GUncertain significance
GUCY2D
(P575L)
Single nucleotide variant
(missense variant)
Choroidal dystrophy, central areolar, 1
+5 more
GBenign/Likely benign
GUCY2D
(V662M)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GUncertain significance
GUCY2D
(H687Y)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
GUCY2D
(P701S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
GUCY2D
(D716N)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GUncertain significance
GUCY2D
(G727S)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+4 more
GUncertain significance
GUCY2D
(R768W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
GUCY2D
(M773T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GUncertain significance
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