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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC122152296, USH2A
(C934W)
Single nucleotide variant
(missense variant)
Usher syndrome
+5 more
GConflicting classifications of pathogenicity
LOC122152296, USH2A
(C849Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
LOC122152296, USH2A
(S841Y)
Single nucleotide variant
(missense variant)
Usher syndrome
GBenign
USH2A, LOC122152296
(R837Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC122152296, USH2A
(N820S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
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