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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RP1
(N69Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RP1
(L128I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
RP1
(L172R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
RP1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
RP1
(Q274K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RP1
(T373I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
RP1
(N523S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RP1
(K663N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RP1
(R677*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+2 more
GPathogenic
RP1
(L749F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RP1
(D832Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RP1
(R872H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
RP1
(P901fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RP1
(A906T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 1
+1 more
GUncertain significance
RP1
(Y915*)
Indel
(nonsense)
not provided
GPathogenic
RP1
(N985Y)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
RP1
(K1044N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RP1
(Q1102R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RP1
(D1178Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RP1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
RP1
(C1245fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RP1
(P1276S)
Single nucleotide variant
(missense variant)
RP1-related condition
+2 more
GConflicting classifications of pathogenicity
RP1
(F1344L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
RP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RP1
(R1519fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RP1
(K1545E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860392, RP1
(A1670T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
LOC126860392, RP1
(Y1673fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC126860392, RP1
(Y1673*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC126860392, RP1
(S1691P)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
LOC126860392, RP1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
LOC126860392, RP1
(G1875A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
RP1, LOC126860392
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
RP1
(C2033Y)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
RP1
(D2066N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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