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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(T3976M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
USH2A
(G3291S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
USH2A
(P3043del)
Deletion
(inframe_deletion)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(G2726E)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH2A
(T1482I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
(I1125M)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A, USH2A-AS1
(Q1063fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
USH2A
(H308fs)
Duplication
(frameshift variant)
Retinal dystrophy
+7 more
GPathogenic
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