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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(Q4541*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
+2 more
GPathogenic
USH2A
(Y4318*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
USH2A
(N4079fs)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Usher syndrome
+11 more
GPathogenic
USH2A
(A3846V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
USH2A
(E3448K)
Single nucleotide variant
(missense variant)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
USH2A
(C3358Y)
Single nucleotide variant
(missense variant)
Usher syndrome
+6 more
GPathogenic/Likely pathogenic
USH2A
(L2827*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
+1 more
GPathogenic/Likely pathogenic
USH2A
(G2313C)
Single nucleotide variant
(missense variant)
Usher syndrome
+6 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(W1800*)
Single nucleotide variant
(nonsense)
Usher syndrome
+4 more
GPathogenic
USH2A, USH2A-AS1
(S1369L)
Single nucleotide variant
(missense variant)
Usher syndrome
+6 more
GConflicting classifications of pathogenicity
USH2A
(E767fs)
Deletion
(frameshift variant)
Rare genetic deafness
+23 more
GConflicting classifications of pathogenicity
USH2A
(C759F)
Single nucleotide variant
(missense variant)
Usher syndrome
GPathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
USH2A
(W409*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
USH2A
(I371fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
+3 more
GPathogenic/Likely pathogenic
USH2A
(N42K)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy 3
GUncertain significance
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