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Links from MedGen

Items: 1 to 100 of 1684

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 39
+1 more
GPathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
USH2A
(V2347fs)
Indel
(frameshift variant)
Retinitis pigmentosa 39
GPathogenic
USH2A, USH2A-AS2
(E1698fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(T445fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GPathogenic
USH2A
(Y2469*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(L4899fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GPathogenic
LOC122152296, USH2A
(L872*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(E3802fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
+1 more
GPathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS2
Duplication
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(C747*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(T5023fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
(Y1198*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(S3592fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(S4842*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GPathogenic
USH2A
(R334fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(K2385fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GPathogenic
USH2A
Deletion
(splice acceptor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(K1518*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(L2675fs)
Microsatellite
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(S579fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(I5115fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(W3685*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A-AS2, USH2A
(L1928fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GPathogenic
USH2A
(S4593fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(L2276*)
Indel
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(R4570fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS2
(Q1844fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(F4925fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(K5154fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(W2396*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GPathogenic
USH2A
(E264fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(G4857V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
USH2A
(S290F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
GUncertain significance
USH2A
(M4644T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
GUncertain significance
USH2A
(C3358S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
(G700fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
(F4991fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
(C2309R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+1 more
GPathogenic/Likely pathogenic
USH2A
(W2455*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
+1 more
GPathogenic
USH2A
(T3156fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
+1 more
GPathogenic
USH2A
(E3952fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
(Y1276*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(Q3845*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
USH2A
(T645fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Usher syndrome
+1 more
GPathogenic/Likely pathogenic
USH2A
(D3129fs)
Microsatellite
(frameshift variant)
Retinitis pigmentosa 39
+1 more
GPathogenic/Likely pathogenic
USH2A
Deletion
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(C3945fs)
Indel
(frameshift variant)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
USH2A, USH2A-AS2
(D1828fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(C3852*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
(Y4505*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
(Q1175*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(Q2340*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(T4819fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(L6fs)
Insertion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(R517fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(N4762fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
(L1089*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
Deletion
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(G2891fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(W354*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(S5039fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(W5042fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(W211*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GPathogenic
USH2A
Deletion
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
USH2A
(S2969*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GPathogenic
USH2A
(T3389fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(D2436fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
(E4397*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(N472*)
Duplication
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(C643fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
(L2173fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
(Q1409*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(N3217fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(V4965fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(Q2140fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(L4058*)
Indel
(nonsense)
not provided
+1 more
GPathogenic
USH2A
(V4016fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
(W1074*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(C3282*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A, USH2A-AS1
(I1207fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(W3040*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GPathogenic
USH2A
(N2651fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
GLikely pathogenic
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