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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Retinal dystrophy
+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
LOC126860392, RP1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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