CEP290[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1636477	NM_025114.4(CEP290):c.7209+11_7209+16del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 310587	NM_025114.4(CEP290):c.7209+11_7209+14del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 2925887	NM_025114.4(CEP290):c.7209+9_7209+13del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2936483	NM_025114.4(CEP290):c.7209+7_7209+10del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 700855	NM_025114.4(CEP290):c.7209+7T>C	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 310588	NM_025114.4(CEP290):c.7209+7T>G	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +8 more	GConflicting classifications of pathogenicity
Select item 2680597	NM_025114.4(CEP290):c.7209+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2498047	NM_025114.4(CEP290):c.7198_7209del (p.Gln2400_Lys2403del)	CEP290	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1401493	NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)	CEP290 (Q2400E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1339724	NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)	CEP290 (Q2400*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14 +8 more	GPathogenic/Likely pathogenic
Select item 498499	NM_025114.4(CEP290):c.7197G>A (p.Lys2399=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 1946429	NM_025114.4(CEP290):c.7191A>C (p.Leu2397=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1573819	NM_025114.4(CEP290):c.7188T>C (p.Asp2396=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 2169371	NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)	CEP290 (D2396H +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 310589	NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	CEP290 (D2396Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +9 more	GConflicting classifications of pathogenicity
Select item 1143128	NM_025114.4(CEP290):c.7179A>G (p.Lys2393=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2927058	NM_025114.4(CEP290):c.7176C>A (p.Leu2392=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2178392	NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)	CEP290 (L2392fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 2923135	NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)	CEP290 (L1452F +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 2052552	NM_025114.4(CEP290):c.7173G>A (p.Gln2391=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 1457648	NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs)	CEP290 (Q2391fs)	Microsatellite (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 855629	NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)	CEP290 (T2390R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 3241093	NM_025114.4(CEP290):c.7165G>T (p.Glu2389Ter)	CEP290 (E1449* +1 more)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 3241111	NM_025114.4(CEP290):c.7163_7164del (p.Leu2388fs)	CEP290 (L2388fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2680598	NM_025114.4(CEP290):c.7162_7163del (p.Leu2388fs)	CEP290 (L2388fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2923306	NM_025114.4(CEP290):c.7162C>T (p.Leu2388=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 1355815	NM_025114.4(CEP290):c.7161T>C (p.Asp2387=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2680666	NM_025114.4(CEP290):c.7157_7158del (p.Lys2386fs)	CEP290 (K2386fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2096383	NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)	CEP290 (K2386E +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +6 more	GUncertain significance
Select item 964754	NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)	CEP290 (I2385M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2075137	NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)	CEP290 (I2385V +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 842877	NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)	CEP290	Deletion (nonsense)	CEP290-related disorder +8 more	GPathogenic/Likely pathogenic
Select item 2165217	NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)	CEP290 (K2384E +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 2932953	NM_025114.4(CEP290):c.7143A>G (p.Leu2381=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 2939404	NM_025114.4(CEP290):c.7134T>C (p.Ala2378=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 618558	NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly)	CEP290 (A2378G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090087	NM_025114.4(CEP290):c.7131T>C (p.Asp2377=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2953572	NM_025114.4(CEP290):c.7130-1G>A	CEP290	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 3241125	NM_025114.4(CEP290):c.7130-2del	CEP290	Deletion (splice acceptor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 2117526	NM_025114.4(CEP290):c.7130-6C>G	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1585890	NM_025114.4(CEP290):c.7130-6C>T	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1374144	NM_025114.4(CEP290):c.7130-8_7130-7del	CEP290	Deletion (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1636374	NM_025114.4(CEP290):c.7130-16A>G	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 2930712	NM_025114.4(CEP290):c.7130-18G>A	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1583551	NM_025114.4(CEP290):c.7130-18G>C	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1196725	NM_025114.4(CEP290):c.7130-73G>A	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238850	NM_025114.4(CEP290):c.7130-129A>G	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206952	NM_025114.4(CEP290):c.7129+157T>C	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204629	NM_025114.4(CEP290):c.7129+105A>G	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265941	NM_025114.4(CEP290):c.7129+73del	CEP290	Deletion (intron variant)	not provided	GBenign
Select item 2935411	NM_025114.4(CEP290):c.7129+20_7129+21del	CEP290	Deletion (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 2157068	NM_025114.4(CEP290):c.7129+20A>G	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2926961	NM_025114.4(CEP290):c.7129+18dup	CEP290	Duplication (intron variant)	Familial aplasia of the vermis +2 more	GBenign
Select item 2945900	NM_025114.4(CEP290):c.7129+13A>T	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1609590	NM_025114.4(CEP290):c.7129+10T>C	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 2949628	NM_025114.4(CEP290):c.7129+9T>G	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1604537	NM_025114.4(CEP290):c.7129+8A>G	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 2948975	NM_025114.4(CEP290):c.7127del (p.Pro2376fs)	CEP290 (P2376fs)	Deletion (frameshift variant)	Nephronophthisis +2 more	GPathogenic
Select item 881141	NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)	CEP290 (P2376S)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +8 more	GUncertain significance
Select item 1002678	NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr)	CEP290 (I2375T)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1548545	NM_025114.4(CEP290):c.7119C>T (p.Ser2373=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 2943194	NM_025114.4(CEP290):c.7113T>C (p.Ala2371=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2115525	NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)	CEP290 (A1431S +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 1931957	NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)	CEP290 (S1429R +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 1638322	NM_025114.4(CEP290):c.7104A>G (p.Gln2368=)	CEP290	Single nucleotide variant (synonymous variant)	CEP290-related disorder +3 more	GLikely benign
Select item 843587	NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu)	CEP290 (I2362L)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1498499	NM_025114.4(CEP290):c.7083G>T (p.Gln2361His)	CEP290 (Q2361H)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 1404589	NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg)	CEP290 (Q2361R)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 2429287	NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)	CEP290 (Q1421* +1 more)	Single nucleotide variant (nonsense)	CEP290-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 959307	NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)	CEP290 (H2360P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 651557	NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter)	CEP290 (H2360*)	Duplication (nonsense)	Bardet-Biedl syndrome 14 +3 more	GPathogenic/Likely pathogenic
Select item 2921903	NM_025114.4(CEP290):c.7077C>A (p.Ile2359=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GLikely benign
Select item 594796	NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu)	CEP290 (I2359L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 2530841	NM_025114.4(CEP290):c.7071A>C (p.Glu2357Asp)	CEP290 (E2357D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 424602	NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)	CEP290 (E2357G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 1060296	NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly)	CEP290 (A2356G)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1974237	NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)	CEP290 (A1416T +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GUncertain significance
Select item 283901	NM_025114.4(CEP290):c.7062_7063del (p.Lys2355fs)	CEP290 (K2355fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2137091	NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)	CEP290 (D2352E +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1424659	NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val)	CEP290 (D2352V)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 806915	NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)	CEP290 (Q2350*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +5 more	GPathogenic
Select item 374783	NM_025114.4(CEP290):c.7048C>A (p.Gln2350Lys)	CEP290 (Q2350K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2009095	NM_025114.4(CEP290):c.7036T>C (p.Leu2346=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 1423041	NM_025114.4(CEP290):c.7035A>G (p.Arg2345=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +2 more	GUncertain significance
Select item 3241109	NM_025114.4(CEP290):c.7035-1G>T	CEP290	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 14	GLikely pathogenic
Select item 1940545	NM_025114.4(CEP290):c.7035-7G>T	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1104502	NM_025114.4(CEP290):c.7035-9G>A	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 2935942	NM_025114.4(CEP290):c.7035-11T>C	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 2931456	NM_025114.4(CEP290):c.7035-12A>G	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 2940864	NM_025114.4(CEP290):c.7035-14T>C	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 2931616	NM_025114.4(CEP290):c.7035-15A>G	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 2922362	NM_025114.4(CEP290):c.7035-18A>G	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1942835	NM_025114.4(CEP290):c.7035-19C>T	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 126267	NM_025114.4(CEP290):c.7035-38C>G	CEP290	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1327262	NM_025114.4(CEP290):c.7035-140T>C	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196171	NM_025114.4(CEP290):c.7034+275G>A	CEP290	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222020	NM_025114.4(CEP290):c.7034+272C>A	CEP290	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259667	NM_025114.4(CEP290):c.7034+41dup	CEP290	Duplication (intron variant)	not provided	GBenign
Select item 261854	NM_025114.4(CEP290):c.7034+40T>A	CEP290	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2933673	NM_025114.4(CEP290):c.7034+19T>A	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign

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