80184[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 883459	NM_025114.4(CEP290):c.*168A>G	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant)	Senior-Loken syndrome 6 +4 more	GUncertain significance
Select item 881098	NM_025114.4(CEP290):c.*151T>C	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 5 +4 more	GUncertain significance
Select item 310583	NM_025114.4(CEP290):c.*139TAAA[1]	RLIG1, CEP290	Microsatellite (3 prime UTR variant)	Leber congenital amaurosis +4 more	GUncertain significance
Select item 261824	NM_025114.4(CEP290):c.*44T>A	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 261823	NM_025114.4(CEP290):c.19_22del	CEP290, RLIG1	Deletion (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 1667571	NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 1402662	NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg)	CEP290, RLIG1 (P2477R)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1611896	NM_025114.4(CEP290):c.7425T>C (p.Asn2475=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 3351171	NM_025114.4(CEP290):c.7423A>C (p.Asn2475His)	CEP290, RLIG1 (N2475H)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder	GUncertain significance
Select item 2934707	NM_025114.4(CEP290):c.7422T>C (p.Val2474=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2025274	NM_025114.4(CEP290):c.7416T>C (p.Ser2472=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 197973	NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg)	CEP290, RLIG1 (S2472R)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 961105	NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del)	CEP290, RLIG1 (E2471del)	Microsatellite (inframe_deletion +1 more)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 1307943	NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs)	CEP290, RLIG1 (E2471fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GUncertain significance
Select item 2416454	NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)	CEP290, RLIG1 (E2471K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2023655	NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs)	CEP290, RLIG1 (F2466fs)	Duplication (frameshift variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 946983	NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser)	CEP290, RLIG1 (F2466S)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 444301	NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr)	CEP290, RLIG1 (F2466Y)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2934612	NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)	CEP290, RLIG1	Duplication (inframe_insertion +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 372319	NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)	CEP290, RLIG1 (E2465fs)	Microsatellite (frameshift variant +1 more)	Joubert syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 3349103	NM_025114.4(CEP290):c.7394A>C (p.Glu2465Ala)	CEP290, RLIG1 (E2465A)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder	GUncertain significance
Select item 966453	NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)	CEP290, RLIG1 (E2465fs)	Insertion (frameshift variant +1 more)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 2019696	NM_025114.4(CEP290):c.7386T>G (p.Ala2462=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1056716	NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del)	CEP290, RLIG1 (A2462del)	Microsatellite (inframe_deletion +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 2952942	NM_025114.4(CEP290):c.7380T>A (p.Val2460=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 310584	NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)	RLIG1, CEP290 (P2459S)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 2923815	NM_025114.4(CEP290):c.7374C>T (p.Ser2458=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 968286	NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)	CEP290, RLIG1 (S2458G)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 943045	NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile)	CEP290, RLIG1 (T2457I)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 2940830	NM_025114.4(CEP290):c.7366T>C (p.Leu2456=)	RLIG1, CEP290	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 310585	NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 10 +7 more	GConflicting classifications of pathogenicity
Select item 2628978	NM_025114.4(CEP290):c.7361T>C (p.Val2454Ala)	CEP290, RLIG1 (V2454A)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder	GUncertain significance
Select item 3353699	NM_025114.4(CEP290):c.7359A>G (p.Gly2453=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	CEP290-related disorder	GLikely benign
Select item 2070763	NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu)	RLIG1, CEP290 (G2453E)	Indel (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1153967	NM_025114.4(CEP290):c.7354T>C (p.Leu2452=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 2628703	NM_025114.4(CEP290):c.7348G>C (p.Glu2450Gln)	CEP290, RLIG1 (E2450Q)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder	GUncertain significance
Select item 2945845	NM_025114.4(CEP290):c.7347A>G (p.Ser2449=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 830333	NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)	CEP290, RLIG1 (S2449fs)	Duplication (frameshift variant +1 more)	Nephronophthisis +3 more	GPathogenic/Likely pathogenic
Select item 99864	NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)	CEP290, RLIG1 (L2448fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 14 +7 more	GPathogenic/Likely pathogenic
Select item 1453970	NM_025114.4(CEP290):c.7341A>G (p.Lys2447=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1076473	NM_025114.4(CEP290):c.7341del (p.Lys2447fs)	CEP290, RLIG1 (K2447fs)	Deletion (frameshift variant +1 more)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 866908	NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)	CEP290, RLIG1 (K2447T)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 2680609	NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)	CEP290, RLIG1 (L2448fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GPathogenic
Select item 2140759	NM_025114.4(CEP290):c.7335A>C (p.Val2445=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 945143	NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)	RLIG1, CEP290 (V2445I)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 663263	NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)	CEP290, RLIG1 (V2445fs)	Microsatellite (frameshift variant +1 more)	Meckel-Gruber syndrome +8 more	GPathogenic/Likely pathogenic
Select item 856893	NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)	CEP290, RLIG1 (E2443fs)	Microsatellite (frameshift variant +1 more)	CEP290-related disorder +8 more	GPathogenic
Select item 2041164	NM_025114.4(CEP290):c.7331del (p.Lys2444fs)	RLIG1, CEP290 (K2444fs)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 2680610	NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer)	CEP290, RLIG1	Indel (nonsense +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 797282	NM_025114.4(CEP290):c.7329G>A (p.Glu2443=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1071910	NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)	CEP290, RLIG1 (E2442*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 6 +7 more	GPathogenic/Likely pathogenic
Select item 866473	NM_025114.4(CEP290):c.7318_7321dup (p.Leu2441fs)	CEP290, RLIG1 (L2441fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3064910	NM_025114.4(CEP290):c.7320_7321del (p.Leu2441fs)	CEP290, RLIG1 (L2441fs)	Microsatellite (frameshift variant +1 more)	Leber congenital amaurosis 10	GUncertain significance
Select item 2941862	NM_025114.4(CEP290):c.7317T>A (p.Ile2439=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1964218	NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr)	CEP290, RLIG1 (I2439T)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2131404	NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys)	CEP290, RLIG1	Microsatellite (inframe_insertion +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1542902	NM_025114.4(CEP290):c.7314T>C (p.Asn2438=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 286991	NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)	CEP290, RLIG1 (K2437del)	Microsatellite (inframe_deletion +1 more)	Bardet-Biedl syndrome 14 +8 more	GUncertain significance
Select item 2680574	NM_025114.4(CEP290):c.7311del (p.Asn2438fs)	CEP290, RLIG1 (N2438fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 530915	NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn)	CEP290, RLIG1 (K2437N)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1616435	NM_025114.4(CEP290):c.7308G>A (p.Lys2436=)	RLIG1, CEP290	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 1944156	NM_025114.4(CEP290):c.7305G>C (p.Val2435=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1368258	NM_025114.4(CEP290):c.7303G>A (p.Val2435Met)	CEP290, RLIG1 (V2435M)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1076282	NM_025114.4(CEP290):c.7289_7292dup (p.Tyr2431Ter)	CEP290, RLIG1 (Y2431*)	Duplication (nonsense +1 more)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 745463	NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 3266144	NM_025114.4(CEP290):c.7290T>A (p.Asn2430Lys)	CEP290, RLIG1 (N2430K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1452299	NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs)	CEP290, RLIG1 (N2430fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 14 +3 more	GPathogenic/Likely pathogenic
Select item 1698978	NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)	CEP290, RLIG1 (Y2429*)	Duplication (nonsense +1 more)	Joubert syndrome 5 +3 more	GPathogenic
Select item 1071318	NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)	CEP290, RLIG1 (Y2429*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 956518	NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	CEP290, RLIG1 (Y2429*)	Duplication (nonsense +1 more)	Senior-Loken syndrome 6 +7 more	GPathogenic/Likely pathogenic
Select item 3266149	NM_025114.4(CEP290):c.7285T>C (p.Tyr2429His)	CEP290, RLIG1 (Y2429H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1979898	NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys)	CEP290, RLIG1	Duplication (inframe_insertion +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1995418	NM_025114.4(CEP290):c.7284G>A (p.Lys2428=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1075924	NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)	CEP290, RLIG1 (Y2429fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 14 +4 more	GPathogenic/Likely pathogenic
Select item 310586	NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	CEP290, RLIG1 (D2426N)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 4 +9 more	GUncertain significance
Select item 1137904	NM_025114.4(CEP290):c.7275A>G (p.Glu2425=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1448988	NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter)	CEP290, RLIG1 (E2422*)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +2 more	GPathogenic
Select item 1387697	NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)	CEP290, RLIG1 (E2422*)	Duplication (nonsense +1 more)	Meckel-Gruber syndrome +7 more	GPathogenic/Likely pathogenic
Select item 2947800	NM_025114.4(CEP290):c.7263del (p.Phe2421fs)	CEP290, RLIG1 (F2421fs)	Deletion (frameshift variant +1 more)	Nephronophthisis +2 more	GPathogenic
Select item 2680581	NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs)	CEP290, RLIG1 (S2419fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2947801	NM_025114.4(CEP290):c.7257A>C (p.Ser2419=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 866388	NM_025114.4(CEP290):c.7257A>G (p.Ser2419=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 2680608	NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)	CEP290, RLIG1 (S2419*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 1495972	NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu)	CEP290, RLIG1 (S2419L)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1111058	NM_025114.4(CEP290):c.7251T>C (p.Asp2417=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2680629	NM_025114.4(CEP290):c.7248del (p.Phe2416fs)	CEP290, RLIG1 (F2416fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2148094	NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp)	CEP290, RLIG1 (N2415D)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 647854	NM_025114.3(CEP290):c.4438-318_7243del	LOC129390514, CEP290 +2 more	Deletion	Familial aplasia of the vermis +2 more	GPathogenic
Select item 3241103	NM_025114.4(CEP290):c.7240G>T (p.Glu2414Ter)	CEP290, RLIG1 (E2414*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 838668	NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)	CEP290, RLIG1 (E2414K)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1078180	NM_025114.4(CEP290):c.7239G>C (p.Leu2413=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1385035	NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met)	CEP290, RLIG1 (L2413M)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1324055	NM_025114.4(CEP290):c.7234del (p.Glu2412fs)	CEP290, RLIG1 (E2412fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 848929	NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)	CEP290, RLIG1 (E2412fs)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 10 +7 more	GPathogenic/Likely pathogenic
Select item 2946171	NM_025114.4(CEP290):c.7233A>G (p.Lys2411=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1419020	NM_025114.4(CEP290):c.7233del (p.Glu2412fs)	CEP290, RLIG1 (E2412fs)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 418123	NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	CEP290, RLIG1 (K2407fs)	Deletion (frameshift variant +1 more)	Nephronophthisis +9 more	GPathogenic/Likely pathogenic
Select item 2175602	NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)	CEP290, RLIG1 (K2408Q)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +4 more	GUncertain significance

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