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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(G1871D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(I1804V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A, USH2A-AS2
(V1787M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A, USH2A-AS2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(W1706*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(N1704I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A, USH2A-AS2
(N1683S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(K1680R)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH2A, USH2A-AS2
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
USH2A, USH2A-AS2
(G1671D)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GPathogenic
USH2A, USH2A-AS2
(L1648P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(N1635fs)
Indel
(non-coding transcript variant +1 more)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
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