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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB1
(S1195C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGB1
(R1187Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CNGB1
(R1127Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
CNGB1
(G1039R +1 more)
Single nucleotide variant
(missense variant)
CNGB1-related condition
+4 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
CNGB1-related condition
+1 more
GLikely benign
CNGB1
(L849fs +1 more)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CNGB1
Single nucleotide variant
(synonymous variant)
CNGB1-related condition
+2 more
GBenign/Likely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
CNGB1-related condition
+3 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CNGB1
(T461M +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
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