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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGA3
(S39del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CNGA3
(P48L)
Single nucleotide variant
(missense variant)
CNGA3-related condition
+3 more
GBenign/Likely benign
CNGA3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CNGA3
(P95L)
Single nucleotide variant
(missense variant)
Achromatopsia 2
+1 more
GConflicting classifications of pathogenicity
CNGA3
(T153M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CNGA3
(R170C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGA3
(D193N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGA3
(R223W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
CNGA3
(E228K +1 more)
Single nucleotide variant
(missense variant)
Achromatopsia
+3 more
GConflicting classifications of pathogenicity
CNGA3
(T247M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGA3
(P271A +1 more)
Single nucleotide variant
(missense variant)
Achromatopsia 2
+2 more
GConflicting classifications of pathogenicity
CNGA3
(R290C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGA3
(A323P +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
CNGA3
(H345R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGA3
(R427C +1 more)
Single nucleotide variant
(missense variant)
Abnormality of the eye
+4 more
GPathogenic
CNGA3
(W440fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CNGA3
(M519I +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CNGA3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CNGA3
(D532V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGA3
(D533H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGA3
(V540I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGA3
(R563C +1 more)
Single nucleotide variant
(missense variant)
Achromatopsia 2
+1 more
GConflicting classifications of pathogenicity
CNGA3
(I571T +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CNGA3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CNGA3
(Q660* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
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