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Links from MedGen

Items: 1 to 100 of 860

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYS
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Q2458*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(L623fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(E1830fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Y902fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Y1597*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(F3108fs +1 more)
Indel
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Deletion
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(S1048*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS, PHF3
(C2899* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(S761fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GPathogenic
EYS
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(S277fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(V2013fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(P671fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(T2fs)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(T2718fs +1 more)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(N2459fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GPathogenic
EYS
Deletion
(splice donor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Q2199*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(R1485fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(E1647*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(I3127fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS
(C1996*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GPathogenic
EYS, PHF3
(Y2935* +1 more)
Duplication
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GPathogenic
EYS
(S1635fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Deletion
(genic downstream transcript variant)
Retinitis pigmentosa 25
GPathogenic
EYS
(I1752fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(R794fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(C1170*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(S1479*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(S2953* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(N105fs)
Indel
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(C374*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(T150fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(S37*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Deletion
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Y1949fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS
(F1938fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(E1691*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(F502fs)
Insertion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(E3004fs +1 more)
Deletion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(L3055fs +1 more)
Microsatellite
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(D2798fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic
EYS
(E375*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(A1343fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(C445*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS
(E330*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(T2805fs +1 more)
Duplication
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GPathogenic
EYS, PHF3
(K3113fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic
EYS
(C690fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(C2339*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Y39*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(L2748fs +1 more)
Deletion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GPathogenic
EYS
(Y1893fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS
(W2046*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(D2393fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(H875fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(L84*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(G495fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(T2805fs +1 more)
Insertion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Deletion
(genic downstream transcript variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(L2752fs +1 more)
Deletion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(G85*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Q571*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Deletion
(splice donor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(F1746fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS
(K2641*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Deletion
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Y479fs)
Microsatellite
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Inversion
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(S2499fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(N604fs)
Indel
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(C860*)
Indel
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(Q1573*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
EYS
(Y54fs)
Indel
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(E906*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Deletion
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS, PHF3
(S3029fs +1 more)
Microsatellite
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(E2376*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(A1557fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(N3023fs +1 more)
Deletion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(A315fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GPathogenic
EYS
(C309*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(E3005* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(E931fs)
Indel
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(I2982fs +1 more)
Indel
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
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