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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RP1
(D202E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 1
+1 more
GPathogenic/Likely pathogenic
RP1
(A221fs)
Deletion
(frameshift variant)
Autosomal recessive retinitis pigmentosa
GPathogenic
RP1
(R338*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 1
+1 more
GPathogenic
RP1
(S574fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RP1
(W1132*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive retinitis pigmentosa
+1 more
GPathogenic
RP1
(N1143fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 1
GPathogenic/Likely pathogenic
RP1
(A1182fs)
Insertion
(frameshift variant +1 more)
Autosomal recessive retinitis pigmentosa
GPathogenic
RP1
(E1227fs)
Duplication
(frameshift variant +1 more)
Autosomal recessive retinitis pigmentosa
GPathogenic
RP1
(H1414fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
RP1
(K1518*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive retinitis pigmentosa
GPathogenic
LOC126860392, RP1
(A1670T)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
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