ClinVar for MedGen (Select 347545) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234854	NM_025114.4(CEP290):c.2594T>C (p.Leu865Pro)	CEP290 (L865P)	Single nucleotide variant (missense variant)	Joubert syndrome 5	GUncertain significance
Select item 2583177	NM_025114.4(CEP290):c.104T>G (p.Val35Gly)	CEP290 (V35G)	Single nucleotide variant (missense variant)	Joubert syndrome 5	GUncertain significance
Select item 2502259	NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]	CEP290	Single nucleotide variant (intron variant)	Senior-Loken syndrome 6 +3 more	GUncertain significance
Select item 2502208	NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)	CEP290	Indel (inframe_indel)	Joubert syndrome 5 +3 more	GUncertain significance
Select item 2096383	NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)	CEP290 (K2386E)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +6 more	GUncertain significance
Select item 1983493	NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)	CEP290 (R1084Q)	Single nucleotide variant (missense variant)	Nephronophthisis +6 more	GUncertain significance
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 1697264	NM_025114.4(CEP290):c.4102G>C (p.Asp1368His)	CEP290 (D1368H)	Single nucleotide variant (missense variant)	Joubert syndrome 5	GUncertain significance
Select item 1696401	NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)	CEP290 (R1622H)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1677015	NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)	CEP290 (R1253H)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 1674917	NM_025114.4(CEP290):c.4599C>T (p.His1533=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1647150	NM_025114.4(CEP290):c.6523-17_6523-15del	CEP290	Deletion (intron variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1645262	NM_025114.4(CEP290):c.441+14T>G	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1637392	NM_025114.4(CEP290):c.5013-30CA[5]	CEP290	Microsatellite (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1636374	NM_025114.4(CEP290):c.7130-16A>G	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1626591	NM_025114.4(CEP290):c.442-23_442-20del	CEP290	Microsatellite (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1618677	NM_025114.4(CEP290):c.102+13T>C	CEP290	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 14 +7 more	GLikely benign
Select item 1617735	NM_025114.4(CEP290):c.441+18T>C	CEP290	Single nucleotide variant (intron variant)	Senior-Loken syndrome 6 +7 more	GLikely benign
Select item 1612998	NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1609554	NM_025114.4(CEP290):c.442-20_442-19insA	CEP290	Insertion (intron variant)	Meckel-Gruber syndrome +7 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 1577131	NM_025114.4(CEP290):c.5211G>A (p.Lys1737=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1576785	NM_025114.4(CEP290):c.6270+19A>G	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1575927	NM_025114.4(CEP290):c.4705-7A>G	CEP290	Single nucleotide variant (intron variant)	Leber congenital amaurosis 10 +7 more	GLikely benign
Select item 1562226	NM_025114.4(CEP290):c.251-11del	CEP290	Deletion (intron variant)	Meckel syndrome, type 4 +7 more	GBenign/Likely benign
Select item 1557837	NM_025114.4(CEP290):c.2448T>C (p.Arg816=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +7 more	GLikely benign
Select item 1552780	NM_025114.4(CEP290):c.3843A>G (p.Ala1281=)	CEP290	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 14 +7 more	GLikely benign
Select item 1520674	NM_025114.4(CEP290):c.102+2T>G	CEP290	Single nucleotide variant (splice donor variant)	CEP290-related disorder +8 more	GLikely pathogenic
Select item 1511754	NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)	CEP290 (Q1174del)	Microsatellite (inframe_deletion)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1507013	NM_025114.4(CEP290):c.4030-14A>G	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1505613	NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)	CEP290 (Y976C)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +7 more	GUncertain significance
Select item 1501617	NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp)	CEP290 (R723W)	Single nucleotide variant (missense variant)	Nephronophthisis +7 more	GUncertain significance
Select item 1501489	NM_025114.4(CEP290):c.1359+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Nephronophthisis +7 more	GLikely pathogenic
Select item 1501053	NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)	CEP290 (E23del)	Microsatellite (inframe_deletion)	Joubert syndrome 5 +7 more	GUncertain significance
Select item 1499441	NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)	CEP290 (Q178R)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +7 more	GUncertain significance
Select item 1495392	NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)	CEP290 (I740V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1493024	NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)	CEP290 (A398S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 1489455	NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)	CEP290 (H2191D)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1488775	NM_025114.4(CEP290):c.755A>T (p.Lys252Met)	CEP290 (K252M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1470499	NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)	CEP290 (K1317E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1464597	NM_025114.4(CEP290):c.4302+5G>A	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1457703	NM_025114.4(CEP290):c.1830del (p.Glu610fs)	CEP290 (E610fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14 +7 more	GPathogenic
Select item 1432036	NM_025114.4(CEP290):c.1623+2C>A	CEP290	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1420572	NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)	CEP290 (N1068S)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +7 more	GUncertain significance
Select item 1417087	NM_025114.4(CEP290):c.584del (p.Leu195fs)	CEP290 (L195fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 14 +7 more	GPathogenic/Likely pathogenic
Select item 1416635	NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)	CEP290 (A1566V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 1411380	NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)	CEP290 (R1093C)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +7 more	GUncertain significance
Select item 1408836	NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)	CEP290 (E1935D)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1405608	NM_025114.4(CEP290):c.3285del (p.Phe1095fs)	CEP290 (F1095fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +7 more	GPathogenic/Likely pathogenic
Select item 1401493	NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)	CEP290 (Q2400E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1400631	NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)	CEP290 (R2208S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
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 1381438	NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)	CEP290 (N955S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1380530	NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)	CEP290 (N390S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1379634	NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)	CEP290 (K745E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1374521	NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr)	CEP290 (I1300T)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +7 more	GUncertain significance
Select item 1373969	NM_025114.4(CEP290):c.904A>G (p.Ile302Val)	CEP290 (I302V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1371328	NM_025114.4(CEP290):c.2483+5A>G	CEP290	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1360169	NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)	CEP290 (I589L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +8 more	GUncertain significance
Select item 1359402	NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)	CEP290 (V1007A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1345866	NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)	CEP290 (S1086L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 10 +7 more	GUncertain significance
Select item 1341345	NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro)	CEP290 (Q1173P)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +3 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 1331227	NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val)	CEP290 (E1579V)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +5 more	GUncertain significance
Select item 1308591	NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)	CEP290 (M924I)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GUncertain significance
Select item 1308499	NM_025114.4(CEP290):c.739G>A (p.Val247Ile)	CEP290 (V247I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 1306789	NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)	CEP290 (A2287T)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 6 +8 more	GUncertain significance
Select item 1301187	NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)	CEP290	Deletion (inframe_deletion)	Senior-Loken syndrome 6 +8 more	GUncertain significance
Select item 1297025	NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)	CEP290	Deletion (nonsense)	Joubert syndrome 5	GLikely pathogenic
Select item 1210374	NM_025114.4(CEP290):c.1310del (p.Lys437fs)	CEP290 (K437fs)	Deletion (frameshift variant)	Joubert syndrome 5	GLikely pathogenic
Select item 1209819	NM_025114.4(CEP290):c.6645+67G>A	CEP290	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1195975	NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys)	CEP290 (E2212K)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +3 more	GUncertain significance
Select item 1195974	NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)	CEP290, LOC129390514 (V2093I)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +3 more	GUncertain significance
Select item 1185813	NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)	CEP290 (E238*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +8 more	GPathogenic
Select item 1179041	NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)	CEP290 (E1029*)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 6 +4 more	GLikely pathogenic
Select item 1164289	NM_025114.4(CEP290):c.5227-23dup	CEP290	Duplication (intron variant)	Senior-Loken syndrome 6 +7 more	GBenign/Likely benign
Select item 1160808	NM_025114.4(CEP290):c.4881A>G (p.Glu1627=)	CEP290	Single nucleotide variant (synonymous variant)	Joubert syndrome 5 +7 more	GLikely benign
Select item 1156262	NM_025114.4(CEP290):c.4095A>G (p.Leu1365=)	CEP290	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 10 +7 more	GLikely benign
Select item 1138053	NM_025114.4(CEP290):c.189T>C (p.Ala63=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 4 +7 more	GLikely benign
Select item 1136945	NM_025114.4(CEP290):c.93C>T (p.Ser31=)	CEP290	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 14 +7 more	GLikely benign
Select item 1133052	NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +7 more	GLikely benign
Select item 1127548	NM_025114.4(CEP290):c.1977G>A (p.Lys659=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1122259	NM_025114.4(CEP290):c.1712-9T>C	CEP290	Single nucleotide variant (intron variant)	Senior-Loken syndrome 6 +7 more	GLikely benign
Select item 1120913	NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)	CEP290	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 6 +7 more	GLikely benign
Select item 1120629	NM_025114.4(CEP290):c.6135+10T>C	CEP290	Single nucleotide variant (intron variant)	Senior-Loken syndrome 6 +7 more	GLikely benign
Select item 1116742	NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)	CEP290	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 14 +7 more	GLikely benign
Select item 1104929	NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)	CEP290	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 14 +4 more	GConflicting classifications of pathogenicity
Select item 1104695	NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1096912	NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)	CEP290	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 10 +7 more	GLikely benign
Select item 1095623	NM_025114.4(CEP290):c.6271-15C>T	CEP290, LOC129390514	Single nucleotide variant (intron variant)	Nephronophthisis +7 more	GLikely benign
Select item 1078528	NM_025114.4(CEP290):c.549C>T (p.Tyr183=)	CEP290	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 10 +7 more	GLikely benign
Select item 1077912	NM_025114.4(CEP290):c.6150G>A (p.Glu2050=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +7 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 1075280	NM_025114.4(CEP290):c.583_584del (p.Leu195fs)	CEP290 (L195fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +7 more	GPathogenic/Likely pathogenic
Select item 1071911	NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)	CEP290 (K419fs)	Microsatellite (frameshift variant)	Senior-Loken syndrome 6 +7 more	GPathogenic/Likely pathogenic
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 1071036	NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	CEP290 (R1237fs)	Duplication (frameshift variant)	Meckel syndrome, type 4 +5 more	GPathogenic/Likely pathogenic
Select item 1069582	NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)	CEP290 (E1364*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 1069520	NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)	CEP290 (V1166fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +7 more	GPathogenic/Likely pathogenic
Select item 1060028	NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)	CEP290 (M2190I)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance

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