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Items: 1 to 100 of 268

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
Single nucleotide variant
(3 prime UTR variant)
not specified
+3 more
GBenign/Likely benign
USH2A
(S5188G)
Single nucleotide variant
(missense variant)
Usher syndrome
GBenign
USH2A
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 39
+3 more
GBenign/Likely benign
USH2A
Single nucleotide variant
(splice acceptor variant)
not specified
+3 more
GUncertain significance
USH2A
(A5165G)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
USH2A
(V5145I)
Single nucleotide variant
(missense variant)
Usher syndrome
GBenign
USH2A
(R5143H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
USH2A
(R5143C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
USH2A
(I5126T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GBenign/Likely benign
USH2A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(intron variant)
Usher syndrome
GBenign
USH2A
(R5031W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GBenign/Likely benign
USH2A
(K5026E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
USH2A
(A4987V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
USH2A
(L4944F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A
(T4918M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
(S4881T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
USH2A
(R4848Q)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
(G4838E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
USH2A
(P4835fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
USH2A
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign
USH2A
(T4809I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GConflicting classifications of pathogenicity
USH2A
(A4807T)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH2A
(W4725*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
USH2A
(G4692R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GBenign/Likely benign
USH2A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A
(R4570H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
USH2A
(Y4565*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
USH2A
(P4529L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A
(G4516A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A
(R4493H)
Single nucleotide variant
(missense variant)
USH2A-related condition
+4 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
USH2A
(D4448G)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
USH2A
(T4439I)
Single nucleotide variant
(missense variant)
Usher syndrome
+4 more
GPathogenic/Likely pathogenic
USH2A
(V4433L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
USH2A
(T4425M)
Single nucleotide variant
(missense variant)
Usher syndrome
+2 more
GConflicting classifications of pathogenicity
USH2A
(Y4417C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(A4400S)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
USH2A
(S4377*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
USH2A
(Q4371fs)
Deletion
(frameshift variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
USH2A
(A4366V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
(S4360G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A
(L4333V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(S4275T)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+2 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
USH2A
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign
USH2A
(Q4203R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign
USH2A
(W4200G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
(R4192H)
Single nucleotide variant
(missense variant)
USH2A-related condition
+7 more
GConflicting classifications of pathogenicity
USH2A
(R4192C)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely pathogenic
USH2A
(T4169A)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
USH2A
(E4152G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(W4149R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
USH2A
(L4148P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A
(R4115C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(intron variant)
Usher syndrome
GPathogenic
USH2A
(N4079fs)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic
USH2A
(V4043G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
USH2A
Single nucleotide variant
(splice acceptor variant)
Rare genetic deafness
+4 more
GPathogenic
USH2A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
USH2A
(V4016M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
USH2A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
USH2A
(T3976M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
USH2A
(Q3959fs)
Microsatellite
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Usher syndrome
+11 more
GPathogenic
USH2A
(P3893T)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
USH2A
(M3868V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
USH2A
(T3862R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
USH2A
Duplication
(intron variant)
Usher syndrome type 2A
+3 more
GBenign
USH2A
Deletion
(intron variant)
not specified
+3 more
GBenign
USH2A
(P3836S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A
(V3823I)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
USH2A
(R3744G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(N3742S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
(E3730G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
USH2A
(H3643R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A
(H3634R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A
(I3620V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
USH2A
(S3609I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A
(P3590L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
USH2A
(R3538Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(P3504A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
USH2A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
Deletion
(intron variant)
not provided
GConflicting classifications of pathogenicity
USH2A
(E3448K)
Single nucleotide variant
(missense variant)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
Indel
(inframe_indel)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A
(E3411A)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GBenign
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