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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860392, RP1
(G1649E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC126860392, RP1
(K1653fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
GLikely pathogenic
LOC126860392, RP1
(V1656G)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
RP1, LOC126860392
(Y1673fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 1
+2 more
GPathogenic/Likely pathogenic
LOC126860392, RP1
(I1988fs)
Duplication
(frameshift variant)
Retinitis pigmentosa
+2 more
GPathogenic/Likely pathogenic
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