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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS2
(A1952V)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+4 more
GUncertain significance
USH2A, USH2A-AS2
(T1949A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
USH2A, USH2A-AS2
(R1948C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A, USH2A-AS2
(R1930Q)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A, USH2A-AS2
(Q1910H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
USH2A, USH2A-AS2
(Y1909C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
USH2A, USH2A-AS2
(G1858D)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
USH2A, USH2A-AS2
(Q1844H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
USH2A, USH2A-AS2
(I1842V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
USH2A, USH2A-AS2
(I1812K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
USH2A, USH2A-AS2
(I1804V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A, USH2A-AS2
(T1775N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
USH2A, USH2A-AS2
(N1758S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A, USH2A-AS2
(Y1730C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GUncertain significance
USH2A, USH2A-AS2
(D1692A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
USH2A, USH2A-AS2
(I1687L)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A, USH2A-AS2
(N1681D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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