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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(N4101del)
Microsatellite
(inframe_deletion)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Usher syndrome type 3A
+11 more
GPathogenic
USH2A
(W3521R)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+6 more
GPathogenic/Likely pathogenic
USH2A
(C3090*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+4 more
GPathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
+3 more
GPathogenic/Likely pathogenic
USH2A
(N2651fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
+3 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS1
(A1312fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
+1 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS1
(G1029V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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