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Links from MedGen

Items: 1 to 100 of 803

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(N1000fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Deletion
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Deletion
(splice acceptor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(R2088fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q1409fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L1929fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Deletion
(nonsense +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(R1752fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1849fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(I409fs)
Insertion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q1006* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(I1836fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(M378fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L2388fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q1395* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1222* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(A76fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
(E1474* +1 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q354fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Deletion
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Deletion
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Deletion
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q282*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GPathogenic
CEP290
(L1801* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L1496fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1449* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(T2133fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q186fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q530*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q207*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L1660fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, LOC129390514
(K1173* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L1640fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(R532fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(K1917fs)
Deletion
(frameshift variant)
Nephronophthisis
+3 more
GPathogenic/Likely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Nephronophthisis
+3 more
GPathogenic/Likely pathogenic
CEP290
(L388*)
Single nucleotide variant
(nonsense)
Nephronophthisis
+3 more
GPathogenic
CEP290
Indel
(splice donor variant)
Bardet-Biedl syndrome 14
+3 more
GPathogenic/Likely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
+3 more
GLikely pathogenic
CEP290
(E724* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
+3 more
GPathogenic
CEP290
(K2386fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GPathogenic
CEP290
(K1202fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(V2310fs)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
CEP290
(K2278fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E802fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(H786fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L195*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1985fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(K553*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1330* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
CEP290
(Q1591fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
GPathogenic
CEP290
(I932fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(V2310fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E639fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L1361fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E192fs)
Microsatellite
(frameshift variant)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
CEP290
(K1742fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E499*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1063* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(I1267fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1627* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
CEP290
(N2311fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(R506fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(K857*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+3 more
GPathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(K466fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L1199fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+3 more
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(S837fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
(F2416fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L1748fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(A2164fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(L491fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E1908* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GPathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, LOC129390514
(R2094fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(P1450fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(K1840fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GPathogenic
CEP290
(L1067* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(G1276fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(E485fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(A726fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290
(Q1633* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+3 more
GPathogenic
CEP290
(E1140* +1 more)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
GPathogenic
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