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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(P5078R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
USH2A
(T3667P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
USH2A
(T2781I)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+4 more
GConflicting classifications of pathogenicity
USH2A
(N2356K)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GConflicting classifications of pathogenicity
USH2A
(N2334D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
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