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Items: 1 to 100 of 1442

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUCY2D
Single nucleotide variant
(intron variant)
not provided
GBenign
GUCY2D
Deletion
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
Single nucleotide variant
(intron variant)
GUCY2D-related disorder
GLikely benign
GUCY2D
(M1fs)
Deletion
(frameshift variant +1 more)
Leber congenital amaurosis 1
+1 more
GPathogenic
GUCY2D
(M1V)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 1
+1 more
GPathogenic
GUCY2D
(M1K)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 1
GPathogenic
GUCY2D
(M1I)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
(M1I)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 1
GPathogenic
GUCY2D
(C4Y)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GBenign
GUCY2D
(R6fs)
Microsatellite
(frameshift variant)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
(A5T)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(R6C)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(P14T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(P14A)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+2 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(L16F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GUCY2D
(C17R)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GUncertain significance
GUCY2D
(C17*)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
Duplication
(inframe_insertion)
Leber congenital amaurosis 1
GLikely pathogenic
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(A20V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(W21Q)
Inversion
(missense variant)
not provided
GUncertain significance
GUCY2D
(W21R)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GBenign
GUCY2D
(W22*)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(S25F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(L29F)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(R31fs)
Duplication
(frameshift variant)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Deletion
(inframe_deletion)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(R31G)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(R31Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(L33R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GUCY2D
(L33Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(R35G)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+3 more
GUncertain significance
GUCY2D
(R35L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(P37R)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(L38F)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(L41F)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+4 more
GUncertain significance
GUCY2D
Deletion
(inframe_deletion)
not provided
+6 more
GConflicting classifications of pathogenicity
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(L45del)
Microsatellite
(inframe_deletion)
Choroidal dystrophy, central areolar, 1
+2 more
GUncertain significance
GUCY2D
(L44R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(Q46L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GUCY2D
(A49fs)
Duplication
(frameshift variant)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
(P47S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(A49fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 1
GLikely pathogenic
GUCY2D
(P47R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(P47L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(A49T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(A49S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(A52S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
GUCY2D
(A52V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(T55M)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+2 more
GConflicting classifications of pathogenicity
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(G57R)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(L59fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 1
+1 more
GPathogenic
GUCY2D
(G60fs)
Insertion
(frameshift variant)
Leber congenital amaurosis 1
GPathogenic
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(W62*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 1
+1 more
GPathogenic
GUCY2D
(W62*)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
(A63T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(F68Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GUCY2D
(S69C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(R70P)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(P73Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(P73L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GUCY2D
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Duplication
(inframe_insertion)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Duplication
(inframe_insertion)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Deletion
(inframe_deletion)
not provided
GLikely pathogenic
GUCY2D
(A76fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 1
GPathogenic
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(R78C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
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