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Links from MedGen

Items: 1 to 100 of 309

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGA3
(S111Y)
Single nucleotide variant
(missense variant)
Achromatopsia
GUncertain significance
CNGA3
(Y555* +1 more)
Single nucleotide variant
(nonsense)
Achromatopsia
GLikely pathogenic
OPA3
(K69T)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 3
+2 more
GConflicting classifications of pathogenicity
CNGA3
(L566fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PDE6C
(E752K)
Single nucleotide variant
(missense variant)
Achromatopsia
+1 more
GConflicting classifications of pathogenicity
PDE6C
(K160N)
Single nucleotide variant
(missense variant)
Achromatopsia
GPathogenic
OPN1MW
(M269fs)
Deletion
(frameshift variant)
Achromatopsia
GPathogenic
CNGB3
Deletion
(intron variant)
not provided
GBenign
CNGB3
Single nucleotide variant
(synonymous variant)
CNGB3-related disorder
+1 more
GLikely benign
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB3
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CNGB3
(M459T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(I593S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(T332I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(Q727R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(P118L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(M268T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(V304F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(K205Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(V285M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(P273L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE6C
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB3
(Q163H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(L227P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNGB3
Single nucleotide variant
(intron variant)
Achromatopsia
GUncertain significance
CNGB3
(N338S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(R604Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB3
(A610V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(V402F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(I69T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(K749E)
Single nucleotide variant
(missense variant)
Achromatopsia 3
+2 more
GUncertain significance
CNGB3
Duplication
(inframe_insertion)
not provided
GUncertain significance
CNGB3
(N376D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(H566Y)
Single nucleotide variant
(missense variant)
Achromatopsia 3
+2 more
GUncertain significance
CNGB3
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
CNGB3
(E159K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(Q39K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(Y351C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(G684R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(A807S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(K147N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(A642T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(R25H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(splice donor variant)
Achromatopsia
+1 more
GLikely pathogenic
CNGB3
(R696Q)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+1 more
GUncertain significance
PDE6C
(Q757K)
Single nucleotide variant
(missense variant)
Achromatopsia
+1 more
GUncertain significance
PDE6C
(E543D)
Single nucleotide variant
(missense variant)
Achromatopsia
+1 more
GUncertain significance
PDE6C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6C
(P156S)
Single nucleotide variant
(missense variant)
Cone dystrophy 4
+2 more
GConflicting classifications of pathogenicity
PDE6C
(L138S)
Single nucleotide variant
(missense variant)
PDE6C-related disorder
+4 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(3 prime UTR variant)
Achromatopsia
+1 more
GUncertain significance
PDE6C
(T696M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+2 more
GConflicting classifications of pathogenicity
PDE6C
(R95C)
Single nucleotide variant
(missense variant)
Achromatopsia
+2 more
GUncertain significance
PDE6C
(T436S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+1 more
GUncertain significance
PDE6C
(K822N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6C
(K796E)
Single nucleotide variant
(missense variant)
Achromatopsia
+1 more
GUncertain significance
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+1 more
GUncertain significance
PDE6C
Single nucleotide variant
(intron variant)
Achromatopsia
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(synonymous variant)
Achromatopsia
+2 more
GConflicting classifications of pathogenicity
PDE6C
Single nucleotide variant
(5 prime UTR variant)
Achromatopsia
+1 more
GUncertain significance
CNGB3
(Q43H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB3
(T168M)
Single nucleotide variant
(missense variant)
CNGB3-related disorder
+2 more
GConflicting classifications of pathogenicity
CNGB3
(E796G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB3
(R140H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(C756Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(R781H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(V580I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(R456H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(E745D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB3
(L619P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(E592G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(D87G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
CNGB3
(W373R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(F323C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB3
(D460N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(K703E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(F277L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(E28K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB3
(G612W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB3
(A792V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB3
(A457T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CNGB3
(L150F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CNGB3
Single nucleotide variant
(splice donor variant)
Achromatopsia
+1 more
GPathogenic/Likely pathogenic
CNGA3
(D217V +1 more)
Single nucleotide variant
(missense variant)
Achromatopsia
GPathogenic
CNGA3
(L149fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
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