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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RLBP1
(L273F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
RLBP1
(T249M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RLBP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RLBP1
(F182C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
RLBP1
(L177S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLG, RLBP1
(S168fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
RLBP1
(I163T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RLBP1
Deletion
(intron variant)
Pigmentary retinal dystrophy
+4 more
GBenign/Likely benign
RLBP1
Single nucleotide variant
(synonymous variant)
Pigmentary retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
RLBP1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
RLBP1
(E17K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RLBP1
(M10K)
Single nucleotide variant
(missense variant)
Pigmentary retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
RLBP1
(R9C)
Single nucleotide variant
(missense variant)
Newfoundland cone-rod dystrophy
+2 more
GConflicting classifications of pathogenicity
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