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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(L4840P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+5 more
GUncertain significance
USH2A
(G4763R)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GConflicting classifications of pathogenicity
USH2A
(Q4676R)
Single nucleotide variant
(missense variant)
Congenital sensorineural hearing impairment
+9 more
GConflicting classifications of pathogenicity
USH2A
(G4534fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
Deletion
(inframe_deletion)
Retinitis pigmentosa 39
+2 more
GPathogenic/Likely pathogenic
USH2A
Indel
(inframe_indel)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
USH2A
(M4447L)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+1 more
GPathogenic/Likely pathogenic
USH2A
Deletion
(inframe_indel)
Usher syndrome type 2A
+1 more
GPathogenic/Likely pathogenic
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+10 more
GPathogenic
USH2A
(R3905H)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+2 more
GUncertain significance
USH2A
(A3866V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
USH2A
Deletion
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 2A
+2 more
GPathogenic
USH2A
(P3590L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
USH2A
(N2560S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
USH2A
(N2514S)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+1 more
GConflicting classifications of pathogenicity
USH2A
(R2509fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
+5 more
GPathogenic
USH2A
Single nucleotide variant
(intron variant)
Usher syndrome type 2A
GUncertain significance
USH2A
(P2241H)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(G2223D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(A1953G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GConflicting classifications of pathogenicity
USH2A-AS1, USH2A
(S1347N)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A, USH2A-AS1
(T1238I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
LOC122152296, USH2A
(S917N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(D656N)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
USH2A
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2
+10 more
GPathogenic
USH2A
(R34fs)
Insertion
(frameshift variant)
not provided
+3 more
GPathogenic
ESRRG, GPATCH2
+4 more
Copy number loss
Scoliosis
+4 more
GPathogenic
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