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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(V4946fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
+1 more
GPathogenic
USH2A
(M4447V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GConflicting classifications of pathogenicity
USH2A
(Q4371fs)
Deletion
(frameshift variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
USH2A
(G4340R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(R4192H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+7 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+4 more
GPathogenic
USH2A
(I3789T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
USH2A
(R3719H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Rare genetic deafness
+4 more
GPathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome
GPathogenic
USH2A
(P2241L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic
USH2A
(G1526R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
LOC122152296, USH2A
(C934W)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+4 more
GConflicting classifications of pathogenicity
USH2A
(E767fs)
Deletion
(frameshift variant)
Retinal dystrophy
+22 more
GPathogenic
USH2A
(C759F)
Single nucleotide variant
(missense variant)
Usher syndrome
GPathogenic
USH2A
(C729*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
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