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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRX
Deletion
(intron variant)
Cone-rod dystrophy 2
+2 more
GConflicting classifications of pathogenicity
CRX
Single nucleotide variant
(synonymous variant)
Cone-rod dystrophy 2
+3 more
GBenign/Likely benign
CRX
(V66I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GBenign/Likely benign
CRX
(Q111R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CRX
(G122D)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GBenign/Likely benign
CRX
(P135T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CRX
(S150fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CRX
(A158T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GBenign/Likely benign
CRX
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
CRX
(V242M)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 2
+4 more
GBenign/Likely benign
CRX
(L286fs)
Indel
(frameshift variant)
not provided
GLikely pathogenic
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