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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068202, RP2
(F5del)
Microsatellite
(inframe_deletion)
Cone-rod dystrophy
+2 more
GConflicting classifications of pathogenicity
LOC130068202, RP2
(S15fs)
Deletion
(frameshift variant)
Abnormality of the eye
GLikely pathogenic
RP2
(A113D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GLikely pathogenic
RP2
(R118C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic
RP2
(R120*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+3 more
GPathogenic
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