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Links from MedGen

Items: 1 to 100 of 443

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
Single nucleotide variant
(intron variant)
Meckel syndrome, type 4
+3 more
GUncertain significance
CEP290
Indel
(inframe_indel)
Leber congenital amaurosis 10
+3 more
GUncertain significance
CEP290
(K2386E +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 5
+6 more
GUncertain significance
CEP290
(R144Q +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 10
+7 more
GUncertain significance
CEP290
(V48fs)
Microsatellite
(frameshift variant)
Meckel syndrome, type 4
GPathogenic
CEP290
(R1622H)
Single nucleotide variant
(missense variant)
Nephronophthisis
+8 more
GUncertain significance
CEP290
(R1253H)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+7 more
GLikely benign
CEP290
Deletion
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Microsatellite
(intron variant)
Familial aplasia of the vermis
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GLikely benign
CEP290
Microsatellite
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Meckel syndrome, type 4
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Meckel syndrome, type 4
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Insertion
(intron variant)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Deletion
(intron variant)
Familial aplasia of the vermis
+7 more
GBenign/Likely benign
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Single nucleotide variant
(splice donor variant)
CEP290-related disorder
+8 more
GLikely pathogenic
CEP290
(Q1174del)
Microsatellite
(inframe_deletion)
Bardet-Biedl syndrome 14
+8 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
Nephronophthisis
+7 more
GUncertain significance
CEP290
(Y976C)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(R723W)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
CEP290
Single nucleotide variant
(splice donor variant)
Meckel syndrome, type 4
+7 more
GLikely pathogenic
CEP290
(E23del)
Microsatellite
(inframe_deletion)
Familial aplasia of the vermis
+8 more
GUncertain significance
CEP290
(Q178R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 14
+7 more
GUncertain significance
CEP290
(I740V)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 4
+8 more
GUncertain significance
CEP290
(A398S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 10
+6 more
GUncertain significance
CEP290
(H2191D)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+9 more
GUncertain significance
CEP290
(K252M)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 4
+8 more
GUncertain significance
CEP290
(K1317E)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 14
+7 more
GUncertain significance
CEP290
(E610fs)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+7 more
GPathogenic
CEP290
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
CEP290
(N1068S)
Single nucleotide variant
(missense variant)
Joubert syndrome 5
+7 more
GUncertain significance
CEP290
(L195fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 10
+7 more
GPathogenic/Likely pathogenic
CEP290
(A1566V)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+8 more
GUncertain significance
CEP290
(R1093C)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+8 more
GUncertain significance
CEP290
(E1935D)
Single nucleotide variant
(missense variant)
Nephronophthisis
+7 more
GUncertain significance
CEP290
(F1095fs)
Deletion
(frameshift variant)
Senior-Loken syndrome 6
+7 more
GPathogenic/Likely pathogenic
CEP290
(Q2400E)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 14
+7 more
GUncertain significance
CEP290
(R2208S)
Single nucleotide variant
(missense variant)
Nephronophthisis
+7 more
GUncertain significance
CEP290, RLIG1
(E2422*)
Duplication
(nonsense +1 more)
Bardet-Biedl syndrome 14
+7 more
GPathogenic/Likely pathogenic
CEP290
(N955S)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 10
+7 more
GUncertain significance
CEP290
(N390S)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(K745E)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(I1300T)
Single nucleotide variant
(missense variant)
Joubert syndrome 5
+7 more
GUncertain significance
CEP290
(I302V)
Single nucleotide variant
(missense variant)
CEP290-related disorder
+8 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
CEP290
(I589L)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(V1007A)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(S1086L)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(Q1173P)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 6
+3 more
GUncertain significance
CEP290
(Q2400*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
+8 more
GPathogenic/Likely pathogenic
CEP290
(F1620fs)
Deletion
(frameshift variant)
Meckel syndrome, type 4
GPathogenic
CEP290
(E1579V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 14
+5 more
GUncertain significance
CEP290
(M924I)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
CEP290
(V247I)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
CEP290
(A2287T)
Single nucleotide variant
(missense variant)
Joubert syndrome 5
+8 more
GUncertain significance
CEP290
Deletion
(inframe_deletion)
Meckel-Gruber syndrome
+8 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CEP290
(E2212K)
Single nucleotide variant
(missense variant)
Joubert syndrome 5
+3 more
GUncertain significance
CEP290, LOC129390514
(V2093I)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 4
+3 more
GUncertain significance
CEP290
(E238*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+8 more
GPathogenic
CEP290
(E1029*)
Single nucleotide variant
(nonsense)
Senior-Loken syndrome 6
+4 more
GLikely pathogenic
CEP290
Duplication
(intron variant)
Meckel-Gruber syndrome
+7 more
GBenign/Likely benign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 10
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
CEP290-related disorder
+8 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 6
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Senior-Loken syndrome 6
+7 more
GLikely benign
CEP290
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 6
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+8 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+8 more
GLikely benign
CEP290, LOC129390514
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+8 more
GLikely benign
CEP290
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
CEP290, RLIG1
(K2447fs)
Deletion
(frameshift variant +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
CEP290
(L195fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 10
+7 more
GPathogenic/Likely pathogenic
CEP290
(K419fs)
Microsatellite
(frameshift variant)
Meckel-Gruber syndrome
+7 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(E2442*)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+7 more
GPathogenic/Likely pathogenic
CEP290
(R1237fs)
Duplication
(frameshift variant)
Familial aplasia of the vermis
+5 more
GPathogenic/Likely pathogenic
CEP290
(E1364*)
Single nucleotide variant
(nonsense)
Nephronophthisis
+8 more
GPathogenic
CEP290
(V1166fs)
Duplication
(frameshift variant)
Nephronophthisis
+7 more
GPathogenic/Likely pathogenic
CEP290
(M2190I)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(V814L)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(F760S)
Single nucleotide variant
(missense variant)
CEP290-related disorder
+9 more
GUncertain significance
CEP290
(E174V)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 4
+7 more
GUncertain significance
CEP290
(Q1671H)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
CEP290
(V705I)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
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