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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(C4808*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
USH2A
(R4675*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2
GPathogenic
USH2A
(Y4039fs)
Deletion
(frameshift variant)
not provided
GPathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+4 more
GPathogenic
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+10 more
GPathogenic
USH2A
(P3404fs)
Deletion
(frameshift variant)
not provided
GPathogenic
USH2A
(G3142*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+7 more
GPathogenic/Likely pathogenic
USH2A
(S2907R)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(intron variant)
Usher syndrome type 2A
+6 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic
USH2A-AS2, USH2A
(G1840V)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GPathogenic
LOC122152296, USH2A
(C934W)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+4 more
GConflicting classifications of pathogenicity
USH2A
(R737*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic
USH2A
(D703E)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GLikely pathogenic
USH2A
(L619P)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GLikely pathogenic
USH2A
(G614R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
USH2A
(R334Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GPathogenic/Likely pathogenic
USH2A
(R334W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
USH2A
(G268R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
USH2A
(Q81fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
+3 more
GPathogenic
ADGRV1
(G573V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(R3147Q)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(R3227*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
+1 more
GPathogenic
ADGRV1
(M4042fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2
GPathogenic
ADGRV1
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
ADGRV1
(K5165fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2
GPathogenic
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