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Items: 1 to 100 of 3852

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
ACSS3, ALX1
+287 more
Copy number loss
See cases
GPathogenic
CEP290, RLIG1
Single nucleotide variant
(3 prime UTR variant)
Senior-Loken syndrome 6
+4 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 5
+4 more
GUncertain significance
RLIG1, CEP290
Microsatellite
(3 prime UTR variant)
Leber congenital amaurosis
+4 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
CEP290, RLIG1
Deletion
(3 prime UTR variant)
not provided
+6 more
GBenign/Likely benign
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
CEP290, RLIG1
(P2477R)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(N2475H)
Single nucleotide variant
(missense variant +1 more)
CEP290-related disorder
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290, RLIG1
(S2472R)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+3 more
GUncertain significance
CEP290, RLIG1
(E2471del)
Microsatellite
(inframe_deletion +1 more)
Familial aplasia of the vermis
+3 more
GUncertain significance
CEP290, RLIG1
(E2471fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GUncertain significance
CEP290, RLIG1
(E2471K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
CEP290, RLIG1
(F2466fs)
Duplication
(frameshift variant +1 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CEP290, RLIG1
(F2466S)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
(F2466Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
CEP290, RLIG1
Duplication
(inframe_insertion +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
(E2465fs)
Microsatellite
(frameshift variant +1 more)
Joubert syndrome 5
+6 more
GConflicting classifications of pathogenicity
CEP290, RLIG1
(E2465A)
Single nucleotide variant
(missense variant +1 more)
CEP290-related disorder
GUncertain significance
CEP290, RLIG1
(E2465fs)
Insertion
(frameshift variant +1 more)
Meckel-Gruber syndrome
+3 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(A2462del)
Microsatellite
(inframe_deletion +1 more)
Nephronophthisis
+2 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
RLIG1, CEP290
(P2459S)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 10
+7 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
CEP290, RLIG1
(S2458G)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+3 more
GUncertain significance
CEP290, RLIG1
(T2457I)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
RLIG1, CEP290
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 10
+7 more
GConflicting classifications of pathogenicity
CEP290, RLIG1
(V2454A)
Single nucleotide variant
(missense variant +1 more)
CEP290-related disorder
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
CEP290-related disorder
GLikely benign
RLIG1, CEP290
(G2453E)
Indel
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290, RLIG1
(E2450Q)
Single nucleotide variant
(missense variant +1 more)
CEP290-related disorder
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(S2449fs)
Duplication
(frameshift variant +1 more)
Nephronophthisis
+3 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(L2448fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
+7 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(K2447fs)
Deletion
(frameshift variant +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(K2447T)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+5 more
GUncertain significance
CEP290, RLIG1
(L2448fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
GPathogenic
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
RLIG1, CEP290
(V2445I)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
(V2445fs)
Microsatellite
(frameshift variant +1 more)
Meckel-Gruber syndrome
+8 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(E2443fs)
Microsatellite
(frameshift variant +1 more)
CEP290-related disorder
+8 more
GPathogenic
RLIG1, CEP290
(K2444fs)
Deletion
(frameshift variant +1 more)
Familial aplasia of the vermis
+2 more
GPathogenic
CEP290, RLIG1
Indel
(nonsense +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(E2442*)
Single nucleotide variant
(nonsense +1 more)
Senior-Loken syndrome 6
+7 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(L2441fs)
Microsatellite
(frameshift variant +1 more)
Retinal dystrophy
GPathogenic
CEP290, RLIG1
(L2441fs)
Microsatellite
(frameshift variant +1 more)
Leber congenital amaurosis 10
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(I2439T)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
Microsatellite
(inframe_insertion +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290, RLIG1
(K2437del)
Microsatellite
(inframe_deletion +1 more)
Bardet-Biedl syndrome 14
+8 more
GUncertain significance
CEP290, RLIG1
(N2438fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
(K2437N)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
RLIG1, CEP290
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(V2435M)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
CEP290, RLIG1
(Y2431*)
Duplication
(nonsense +1 more)
Familial aplasia of the vermis
+2 more
GPathogenic
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290, RLIG1
(N2430K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP290, RLIG1
(N2430fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
+3 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(Y2429*)
Duplication
(nonsense +1 more)
Joubert syndrome 5
+3 more
GPathogenic
CEP290, RLIG1
(Y2429*)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(Y2429*)
Duplication
(nonsense +1 more)
Senior-Loken syndrome 6
+7 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(Y2429H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CEP290, RLIG1
Duplication
(inframe_insertion +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290, RLIG1
(Y2429fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
+4 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(D2426N)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 4
+9 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290, RLIG1
(E2422*)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+2 more
GPathogenic
CEP290, RLIG1
(E2422*)
Duplication
(nonsense +1 more)
Meckel-Gruber syndrome
+7 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(F2421fs)
Deletion
(frameshift variant +1 more)
Nephronophthisis
+2 more
GPathogenic
CEP290, RLIG1
(S2419fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Retinal dystrophy
GUncertain significance
CEP290, RLIG1
(S2419*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
(S2419L)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(F2416fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
(N2415D)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
LOC129390514, CEP290
+2 more
Deletion
Familial aplasia of the vermis
+2 more
GPathogenic
CEP290, RLIG1
(E2414*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 14
GLikely pathogenic
CEP290, RLIG1
(E2414K)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+2 more
GLikely benign
CEP290, RLIG1
(L2413M)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
CEP290, RLIG1
(E2412fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GLikely pathogenic
CEP290, RLIG1
(E2412fs)
Duplication
(frameshift variant +1 more)
Leber congenital amaurosis 10
+7 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GLikely benign
CEP290, RLIG1
(E2412fs)
Deletion
(frameshift variant +1 more)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(K2407fs)
Deletion
(frameshift variant +1 more)
Nephronophthisis
+9 more
GPathogenic/Likely pathogenic
CEP290, RLIG1
(K2408Q)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+4 more
GUncertain significance
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