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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290, RLIG1
(S2472R)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+3 more
GUncertain significance
CEP290, RLIG1
(K2437del)
Microsatellite
(inframe_deletion +1 more)
Nephronophthisis
+8 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
Meckel syndrome, type 4
+8 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
CEP290
(I2359L)
Single nucleotide variant
(missense variant)
Kidney disorder
+5 more
GUncertain significance
CEP290
(K2355fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
CEP290
Single nucleotide variant
(intron variant)
Meckel syndrome, type 4
+8 more
GBenign/Likely benign
CEP290
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CEP290
(W2266*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+10 more
GPathogenic
CEP290
(S2263G)
Single nucleotide variant
(missense variant)
not provided
+11 more
GConflicting classifications of pathogenicity
CEP290
(G2255D)
Single nucleotide variant
(missense variant)
Nephronophthisis
+4 more
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+10 more
GConflicting classifications of pathogenicity
CEP290
(I2202fs)
Deletion
(frameshift variant)
CEP290-related condition
+10 more
GPathogenic/Likely pathogenic
CEP290
(H2186Q)
Single nucleotide variant
(missense variant)
CEP290-related condition
+4 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CEP290
Duplication
(intron variant)
Nephronophthisis
+11 more
GBenign
CEP290
(L2151S)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
CEP290
(I2134T)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
CEP290
(N2065D)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 4
+4 more
GUncertain significance
CEP290
(E2064G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+5 more
GConflicting classifications of pathogenicity
CEP290
(D2039G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 14
+9 more
GUncertain significance
CEP290
(I2000V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+11 more
GUncertain significance
CEP290
(R1978*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
CEP290
(E1935*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis
+5 more
GPathogenic/Likely pathogenic
CEP290
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+3 more
GBenign
CEP290
(G1890*)
Single nucleotide variant
(nonsense)
CEP290-Related Disorders
+14 more
GPathogenic/Likely pathogenic
CEP290
(Q1871fs)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+8 more
GPathogenic
CEP290
(E1841K)
Single nucleotide variant
(missense variant)
CEP290-related condition
+4 more
GBenign/Likely benign
CEP290
(I1836V)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 10
+9 more
GConflicting classifications of pathogenicity
CEP290
(A1832fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 10
+14 more
GPathogenic
CEP290
Single nucleotide variant
(synonymous variant)
CEP290-related condition
+11 more
GConflicting classifications of pathogenicity
CEP290
(R1762C)
Single nucleotide variant
(missense variant)
CEP290-related condition
+11 more
GUncertain significance
CEP290
(R1752Q)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GLikely benign
CEP290
(R1746Q)
Single nucleotide variant
(missense variant)
Kidney disorder
+11 more
GBenign/Likely benign
CEP290
(E1728*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+6 more
GPathogenic/Likely pathogenic
CEP290
(Q1709K)
Single nucleotide variant
(missense variant)
CEP290-related condition
+4 more
GUncertain significance
CEP290
(Y1692C)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+9 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(splice donor variant)
Senior-Loken syndrome 6
+8 more
GLikely pathogenic
CEP290
(L1660I)
Single nucleotide variant
(missense variant)
CEP290-related condition
+5 more
GUncertain significance
CEP290
Single nucleotide variant
(splice acceptor variant)
CEP290-Related Disorders
+11 more
GPathogenic/Likely pathogenic
CEP290
(R1508*)
Single nucleotide variant
(nonsense)
Meckel syndrome, type 4
+8 more
GPathogenic
CEP290
(E1504K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+9 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(splice donor variant)
not provided
+10 more
GConflicting classifications of pathogenicity
CEP290
(S1446N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CEP290
(Q1417R)
Single nucleotide variant
(missense variant)
CEP290-related condition
+10 more
GConflicting classifications of pathogenicity
CEP290
(D1413H)
Single nucleotide variant
(missense variant)
CEP290-related condition
+10 more
GConflicting classifications of pathogenicity
CEP290
(R1384C)
Single nucleotide variant
(missense variant)
CEP290-related condition
+9 more
GUncertain significance
CEP290
(D1368N)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CEP290
(V1344A)
Single nucleotide variant
(missense variant)
CEP290-related condition
+4 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
CEP290
(G1276R)
Single nucleotide variant
(missense variant)
CEP290-related condition
+9 more
GUncertain significance
CEP290
(L1263M)
Single nucleotide variant
(missense variant)
CEP290-related condition
+4 more
GUncertain significance
CEP290
(K1220N)
Single nucleotide variant
(missense variant)
CEP290-related condition
+10 more
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
CEP290-related condition
+10 more
GConflicting classifications of pathogenicity
CEP290
(K1202M)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 6
+5 more
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CEP290
Deletion
(intron variant)
not specified
+11 more
GBenign
CEP290
(R1137W)
Single nucleotide variant
(missense variant)
Nephronophthisis
+9 more
GUncertain significance
CEP290
(A1129T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
CEP290-related condition
+13 more
GPathogenic/Likely pathogenic
CEP290
(E994K)
Single nucleotide variant
(missense variant)
CEP290-related condition
+10 more
GConflicting classifications of pathogenicity
CEP290
(E971*)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+3 more
GPathogenic
CEP290
(R908*)
Single nucleotide variant
(nonsense)
Meckel syndrome, type 4
+11 more
GPathogenic/Likely pathogenic
CEP290
(S895P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP290
(Q890*)
Single nucleotide variant
(nonsense)
Nephronophthisis
+3 more
GPathogenic
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
CEP290
Microsatellite
(intron variant)
Renal dysplasia and retinal aplasia
+7 more
GConflicting classifications of pathogenicity
CEP290
(A697P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CEP290
(N690H)
Single nucleotide variant
(missense variant)
CEP290-related condition
+8 more
GUncertain significance
CEP290
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(synonymous variant)
not specified
+10 more
GBenign
CEP290
Deletion
(splice donor variant)
Meckel syndrome, type 4
+9 more
GPathogenic
CEP290
(Q646*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+9 more
GPathogenic
CEP290
(E639*)
Single nucleotide variant
(nonsense)
Meckel syndrome, type 4
+8 more
GPathogenic/Likely pathogenic
CEP290
(R621fs)
Microsatellite
(frameshift variant)
Nephronophthisis
+4 more
GPathogenic
CEP290
Single nucleotide variant
(synonymous variant)
Joubert syndrome 5
+8 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
CEP290
(R557H)
Single nucleotide variant
(missense variant)
CEP290-related condition
+10 more
GUncertain significance
CEP290
(I556N)
Single nucleotide variant
(missense variant)
CEP290-related condition
+5 more
GConflicting classifications of pathogenicity
CEP290
(K555fs)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+3 more
GPathogenic
CEP290
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 4
+8 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(intron variant)
not provided
+9 more
GConflicting classifications of pathogenicity
CEP290
(R504fs)
Microsatellite
(frameshift variant)
Nephronophthisis
+10 more
GPathogenic/Likely pathogenic
CEP290
(V462I)
Single nucleotide variant
(missense variant)
CEP290-related condition
+9 more
GUncertain significance
CEP290
(T405I)
Single nucleotide variant
(missense variant)
Nephronophthisis
+8 more
GUncertain significance
CEP290
(L392R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CEP290
(I364M)
Single nucleotide variant
(missense variant)
not provided
+14 more
GConflicting classifications of pathogenicity
CEP290
(R360Q)
Single nucleotide variant
(missense variant)
Nephronophthisis
+11 more
GConflicting classifications of pathogenicity
CEP290
(D321E)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
CEP290
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CEP290
Single nucleotide variant
(intron variant)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
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