U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 433

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis 10
GLikely pathogenic
CEP290, RLIG1
(L2441fs)
Microsatellite
(frameshift variant +1 more)
Leber congenital amaurosis 10
GUncertain significance
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
(V13D)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 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)
Meckel syndrome, type 4
+7 more
GUncertain significance
CEP290
(E836*)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 10
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)
CEP290-related disorder
+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)
CEP290-related disorder
+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)
CEP290-related disorder
+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)
CEP290-related disorder
+9 more
GUncertain significance
CEP290
(K252M)
Single nucleotide variant
(missense variant)
CEP290-related disorder
+8 more
GUncertain significance
CEP290
(L1850P)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 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)
CEP290-related disorder
+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)
Meckel-Gruber syndrome
+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
(Q2400*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 14
+8 more
GPathogenic/Likely pathogenic
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
(splice acceptor variant)
Leber congenital amaurosis 10
+4 more
GConflicting classifications of pathogenicity
CEP290
(D14G)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 10
GUncertain significance
CEP290
(Q45fs)
Deletion
(frameshift variant)
Leber congenital amaurosis 10
GPathogenic
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)
Meckel-Gruber syndrome
+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
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 10
GLikely 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)
Bardet-Biedl syndrome 14
+9 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination