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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4, LOC126805793
(E1650fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCA4, LOC126805793
(R1640Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
ABCA4, LOC126805793
(R1640W +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GPathogenic/Likely pathogenic; other
ABCA4, LOC126805793
(A1634S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4, LOC126805793
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ABCA4, LOC126805793
(G1591R +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GConflicting classifications of pathogenicity
LOC126805793, ABCA4
(R1585Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA4, LOC126805793
(V1577A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ABCA4, LOC126805793
(T1572M +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GUncertain significance
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