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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGA1, LOC101927157
(Y539*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
CNGA1, LOC101927157
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CNGA1, LOC101927157
(K344R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGA1, LOC101927157
(Y302H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGA1, LOC101927157
(V202I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGA1, LOC101927157
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
CNGA1, LOC101927157
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGA1, LOC101927157
(D114N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CNGA1, LOC101927157
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC101927157, CNGA1
(G60V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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