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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RGR
(A110T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RGR
(G12R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RGR
(Y231fs +1 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 44
GUncertain significance
RGR
(I238fs +2 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
RGR
(R79H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RGR
(L77F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 44
+3 more
GUncertain significance
RGR
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign
RGR
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign
RGR
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RGR
(S66R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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