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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068202, RP2
(S6del)
Deletion
(inframe_deletion)
not provided
GLikely pathogenic
RP2
(Q26*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RP2
(F101fs)
Duplication
(frameshift variant)
not provided
GPathogenic
RP2
(R118L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
GPathogenic
RP2
(R118H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RP2
(R120*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+3 more
GPathogenic
RP2
(Y152fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 2
GPathogenic
RP2
(Y151*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 2
GPathogenic
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