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Links from MedGen

Items: 1 to 100 of 268

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB3
(W385*)
Single nucleotide variant
(nonsense)
Achromatopsia 3
GPathogenic
CNGB3
(Y377*)
Single nucleotide variant
(nonsense)
Achromatopsia 3
GLikely pathogenic
CNGB3
(L628P)
Single nucleotide variant
(missense variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(K292*)
Single nucleotide variant
(nonsense)
Achromatopsia 3
GLikely pathogenic
CNGB3
(N20fs)
Indel
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(F323fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(N90fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(C369*)
Single nucleotide variant
(nonsense)
Achromatopsia 3
GLikely pathogenic
CNGB3
(L540*)
Single nucleotide variant
(nonsense)
Achromatopsia 3
GLikely pathogenic
CNGB3
(L499fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(Y351fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(L617fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(Y469fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(H340fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(E342fs)
Microsatellite
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(T298fs)
Deletion
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(L405S)
Single nucleotide variant
(missense variant)
Achromatopsia 3
GConflicting classifications of pathogenicity
CNGB3
(T683P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CNGB3
(K148fs)
Indel
(frameshift variant)
Achromatopsia 3
GPathogenic
CNGB3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CNGB3
Single nucleotide variant
(intron variant)
Achromatopsia 3
GBenign
CNGB3
(C234Y)
Single nucleotide variant
(missense variant)
Achromatopsia 3
GUncertain significance
CNGB3
(T296fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CNGB3
(E390fs)
Insertion
(frameshift variant)
Achromatopsia 3
+1 more
GPathogenic/Likely pathogenic
CNGB3
Duplication
(splice acceptor variant +1 more)
Achromatopsia 3
GPathogenic
CNGB3
(L227P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNGB3
Single nucleotide variant
(intron variant)
Achromatopsia 3
GPathogenic
CNGB3
(K149fs)
Insertion
(frameshift variant)
Achromatopsia 3
GPathogenic
CNGB3
(K749E)
Single nucleotide variant
(missense variant)
Achromatopsia 3
+2 more
GUncertain significance
CNGB3
(H566Y)
Single nucleotide variant
(missense variant)
Achromatopsia 3
+2 more
GUncertain significance
CNGB3
Single nucleotide variant
(5 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
(K330R)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Achromatopsia 3
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
(T226N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNGB3
(R696Q)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Achromatopsia 3
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GBenign
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GBenign/Likely benign
CNGB3
Single nucleotide variant
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
(D129E)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
(V241I)
Single nucleotide variant
(missense variant)
Achromatopsia 3
+2 more
GConflicting classifications of pathogenicity
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB3
(L784F)
Single nucleotide variant
(missense variant)
Achromatopsia 3
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Achromatopsia 3
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
Achromatopsia 3
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
(D154Y)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
(P158L)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(synonymous variant)
Achromatopsia 3
+1 more
GUncertain significance
CNGB3
(A807T)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+2 more
GUncertain significance
CNGB3
(K808T)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+2 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Achromatopsia 3
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(3 prime UTR variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GUncertain significance
CNGB3
(K56N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNGB3
(E199fs)
Deletion
(frameshift variant)
Achromatopsia 3
+1 more
GPathogenic
CNGB3
(R403*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
CNGB3
Single nucleotide variant
(splice donor variant)
Achromatopsia 3
+1 more
GPathogenic
CNGB3
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CNGB3
Single nucleotide variant
(synonymous variant)
Achromatopsia 3
+2 more
GBenign/Likely benign
CNGB3
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB3
(Q720R)
Single nucleotide variant
(missense variant)
Achromatopsia 3
+2 more
GConflicting classifications of pathogenicity
CNGB3
Single nucleotide variant
(synonymous variant)
Achromatopsia 3
+2 more
GConflicting classifications of pathogenicity
CNGB3
(G107R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB3
(K695fs)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
CNGB3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
CNGB3
Single nucleotide variant
(intron variant)
Achromatopsia
+2 more
GPathogenic/Likely pathogenic
CNGB3
Single nucleotide variant
(intron variant)
Achromatopsia
+1 more
GPathogenic
CNGB3
Microsatellite
(inframe_deletion)
Achromatopsia 3
+2 more
GConflicting classifications of pathogenicity
CNGB3
(R772del)
Deletion
(inframe_deletion)
Achromatopsia 3
+1 more
GConflicting classifications of pathogenicity
CNGB3
(D633G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNGB3
(E592fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CNGB3
(E670*)
Single nucleotide variant
(nonsense)
Achromatopsia 3
+1 more
GPathogenic/Likely pathogenic
CNGB3
Single nucleotide variant
(splice donor variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(K149fs)
Indel
(frameshift variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(S769fs)
Duplication
(frameshift variant)
Achromatopsia 3
+1 more
GConflicting classifications of pathogenicity
CNGB3
(Q701*)
Single nucleotide variant
(nonsense)
Achromatopsia 3
GUncertain significance
CNGB3
(G795R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB3
(G558C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB3
Single nucleotide variant
(splice acceptor variant)
Achromatopsia 3
GLikely pathogenic
CNGB3
(L595F)
Single nucleotide variant
(missense variant)
Achromatopsia
+1 more
GUncertain significance
CNGB3
(R696*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB3
(R604*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CNGB3
Insertion
Achromatopsia 3
GPathogenic
CNGB3
Insertion
Achromatopsia 3
GPathogenic
CNGB3
Deletion
(splice acceptor variant +1 more)
Achromatopsia 3
GPathogenic
CNGB3
Deletion
(splice acceptor variant +1 more)
Achromatopsia 3
GPathogenic
CNGB3
Deletion
Achromatopsia 3
GPathogenic
CNGB3
Indel
Achromatopsia 3
GPathogenic
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