U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 802

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALOX12B, ALOX15B
+7 more
Duplication
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Deletion
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
(E779K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(R106L)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(Y486C)
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
(T312A)
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
(T417S)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(R31Q)
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
(R424W)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(V466L)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(P47S)
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
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(A632T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(L587V)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(A197V)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(A164T)
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
(E398K)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(R534L)
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
(R383L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(H967R)
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
(R822W)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(M784T)
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
(V729I)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(G917C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(L610V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GUCY2D
(A49T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(P792L)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Deletion
(intron variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(R1029C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(A131E)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(V474I)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron 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
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(P764fs)
Deletion
(frameshift variant)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
(R812W)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(R588W)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GLikely pathogenic
GUCY2D
(W150R)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(splice acceptor variant)
Cone-rod dystrophy 6
+1 more
GLikely pathogenic
GUCY2D
(D452E)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(K583T)
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
(A162D)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(G961V)
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
(A262D)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(D452H)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
(P764A)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(I977L)
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
(A263P)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(T506S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(P153S)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(A609fs)
Duplication
(frameshift variant)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis 1
+1 more
GLikely pathogenic
GUCY2D
(T280A)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(G57R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(W150S)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(A328D)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(A174D)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(T801N)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(D384fs)
Deletion
(frameshift variant)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(R966H)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(R380H)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron variant)
Cone-rod dystrophy 6
+1 more
GLikely benign
GUCY2D
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(R822Q)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 1
+1 more
GLikely benign
GUCY2D
(G109C)
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
GUncertain significance
GUCY2D
(R31G)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 1
+1 more
GUncertain significance
GUCY2D
(R1040fs)
Indel
(frameshift variant)
Cone-rod dystrophy 6
+1 more
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
(P102H)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(D87A)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(E261fs)
Insertion
(frameshift variant)
Cone-rod dystrophy 6
+1 more
GPathogenic
GUCY2D
(A572P)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(E793K)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(L29F)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 6
+1 more
GUncertain significance
GUCY2D
(Q775*)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy 6
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination