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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB1
(P1176L +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+2 more
GBenign/Likely benign
CNGB1
(R968W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB1
(Y921fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa 45
+1 more
GPathogenic/Likely pathogenic
CNGB1
(L849fs +1 more)
Duplication
(frameshift variant)
Retinitis pigmentosa 45
+3 more
GPathogenic/Likely pathogenic
CNGB1
(R834L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNGB1
(R756C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GPathogenic
CNGB1
(R731H +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GUncertain significance
CNGB1
(R561W +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GUncertain significance
CNGB1
(T553K +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+1 more
GUncertain significance
CNGB1
(R546C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNGB1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
CNGB1
(D402N +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+4 more
GBenign/Likely benign
CNGB1
(Q318* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 45
+2 more
GPathogenic
CNGB1
(R199C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+2 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa
+3 more
GPathogenic/Likely pathogenic
CNGB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CNGB1
(V37M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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