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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UPF3B
(R374H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
UPF3B
(R358H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
UPF3B
(I253T)
Single nucleotide variant
(missense variant)
Cataract
+4 more
GConflicting classifications of pathogenicity
UPF3B
(R225fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
UPF3B
(T18P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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