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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RLBP1
(E68fs)
Deletion
(frameshift variant)
Bothnia retinal dystrophy
GLikely pathogenic
RLBP1
(R156Q)
Single nucleotide variant
(missense variant)
Bothnia retinal dystrophy
GUncertain significance
RLBP1
(L114P)
Single nucleotide variant
(missense variant)
Bothnia retinal dystrophy
GLikely pathogenic
RLBP1
(I201T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RLBP1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
RLBP1
(R216Q)
Single nucleotide variant
(missense variant)
Newfoundland cone-rod dystrophy
+4 more
GUncertain significance
RLBP1
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic/Likely pathogenic
RLBP1
(R234W)
Single nucleotide variant
(missense variant)
RLBP1-related disorder
+3 more
GPathogenic/Likely pathogenic
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