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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A-AS1, USH2A
(N1379S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A, USH2A-AS1
(S1369L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+6 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
(V1339G)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
(V1296A)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2A
+3 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
USH2A-AS1, USH2A
(G1132D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
USH2A-AS1, USH2A
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A, USH2A-AS1
(T1099fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
+1 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS1
(Q1063fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
USH2A, USH2A-AS1
(Q1057E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A, USH2A-AS1
(H1041Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
(G1029fs)
Deletion
(frameshift variant)
not provided
GPathogenic
USH2A, USH2A-AS1
(R998G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A, USH2A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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