"Ambry Genetics"[submitter] AND "NUP214"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203174	NM_005085.4(NUP214):c.62C>T (p.Ala21Val)	NUP214 (A58V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245511	NM_005085.4(NUP214):c.133T>A (p.Ser45Thr)	NUP214 (S45T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203140	NM_005085.4(NUP214):c.140A>G (p.Lys47Arg)	NUP214 (K47R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408340	NM_005085.4(NUP214):c.205A>C (p.Ile69Leu)	NUP214 (I106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369515	NM_005085.4(NUP214):c.271A>G (p.Met91Val)	NUP214 (M128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1417196	NM_005085.4(NUP214):c.302G>C (p.Ser101Thr)	NUP214 (S101T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2607240	NM_005085.4(NUP214):c.331A>G (p.Met111Val)	NUP214 (M148V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203156	NM_005085.4(NUP214):c.341G>T (p.Ser114Ile)	NUP214 (S151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298067	NM_005085.4(NUP214):c.464T>C (p.Met155Thr)	NUP214 (M155T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203164	NM_005085.4(NUP214):c.478A>G (p.Thr160Ala)	NUP214 (T160A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554447	NM_005085.4(NUP214):c.562A>G (p.Thr188Ala)	NUP214 (T188A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518565	NM_005085.4(NUP214):c.569C>T (p.Pro190Leu)	NUP214 (P190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535309	NM_005085.4(NUP214):c.763G>A (p.Ala255Thr)	NUP214 (A292T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455728	NM_005085.4(NUP214):c.928A>G (p.Ile310Val)	NUP214 (I347V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362056	NM_005085.4(NUP214):c.1006A>T (p.Ile336Phe)	NUP214 (I336F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203136	NM_005085.4(NUP214):c.1028T>C (p.Leu343Pro)	NUP214 (L380P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203137	NM_005085.4(NUP214):c.1135G>A (p.Asp379Asn)	NUP214 (D379N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203138	NM_005085.4(NUP214):c.1364C>G (p.Pro455Arg)	NUP214 (P455R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308354	NM_005085.4(NUP214):c.1481C>A (p.Thr494Lys)	NUP214 (T531K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203141	NM_005085.4(NUP214):c.1495C>A (p.Pro499Thr)	NUP214 (P536T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225614	NM_005085.4(NUP214):c.1549C>T (p.Pro517Ser)	NUP214 (P554S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580727	NM_005085.4(NUP214):c.1589T>C (p.Leu530Pro)	NUP214 (L530P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3203142	NM_005085.4(NUP214):c.1607C>T (p.Ala536Val)	NUP214 (A536V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203143	NM_005085.4(NUP214):c.1673A>G (p.Glu558Gly)	NUP214 (E558G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203144	NM_005085.4(NUP214):c.1676G>A (p.Ser559Asn)	NUP214 (S559N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362535	NM_005085.4(NUP214):c.1757A>C (p.Asn586Thr)	NUP214 (N586T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548459	NM_005085.4(NUP214):c.1784C>A (p.Ala595Asp)	NUP214 (A595D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290738	NM_005085.4(NUP214):c.1846T>C (p.Ser616Pro)	NUP214 (S605P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365923	NM_005085.4(NUP214):c.2008A>G (p.Thr670Ala)	NUP214 (T696A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490968	NM_005085.4(NUP214):c.2141A>G (p.Gln714Arg)	NUP214 (Q704R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463053	NM_005085.4(NUP214):c.2168G>A (p.Arg723Gln)	NUP214 (R749Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203145	NM_005085.4(NUP214):c.2198C>G (p.Thr733Ser)	NUP214 (T759S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490587	NM_005085.4(NUP214):c.2294T>C (p.Ile765Thr)	NUP214 (I755T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203146	NM_005085.4(NUP214):c.2317C>T (p.Leu773Phe)	NUP214 (L773F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593696	NM_005085.4(NUP214):c.2324G>C (p.Gly775Ala)	NUP214 (G801A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474812	NM_005085.4(NUP214):c.2369G>A (p.Arg790His)	NUP214 (R780H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475526	NM_005085.4(NUP214):c.2414C>T (p.Pro805Leu)	NUP214 (P795L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203147	NM_005085.4(NUP214):c.2420G>C (p.Ser807Thr)	NUP214 (S797T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328575	NM_005085.4(NUP214):c.2585C>T (p.Ala862Val)	NUP214 (A852V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284595	NM_005085.4(NUP214):c.2626A>C (p.Asn876His)	NUP214 (N866H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374453	NM_005085.4(NUP214):c.2656C>T (p.Arg886Cys)	NUP214 (R876C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218294	NM_005085.4(NUP214):c.2693C>T (p.Ser898Leu)	NUP214 (S898L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541863	NM_005085.4(NUP214):c.2698G>A (p.Val900Ile)	NUP214 (V926I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239738	NM_005085.4(NUP214):c.2698G>C (p.Val900Leu)	NUP214 (V890L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482674	NM_005085.4(NUP214):c.2720A>G (p.His907Arg)	NUP214 (H907R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203149	NM_005085.4(NUP214):c.2776G>C (p.Glu926Gln)	NUP214 (E916Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203150	NM_005085.4(NUP214):c.2778A>T (p.Glu926Asp)	NUP214 (E926D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203151	NM_005085.4(NUP214):c.2959A>G (p.Thr987Ala)	NUP214 (T987A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1018569	NM_005085.4(NUP214):c.2998C>T (p.Arg1000Trp)	NUP214 (R1000W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3203152	NM_005085.4(NUP214):c.2999G>A (p.Arg1000Gln)	NUP214 (R1026Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358154	NM_005085.4(NUP214):c.3002C>T (p.Thr1001Met)	NUP214 (T1001M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203153	NM_005085.4(NUP214):c.3052G>A (p.Val1018Met)	NUP214 (V1008M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547381	NM_005085.4(NUP214):c.3064C>T (p.Pro1022Ser)	NUP214 (P1048S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222402	NM_005085.4(NUP214):c.3101C>T (p.Pro1034Leu)	NUP214 (P1024L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328042	NM_005085.4(NUP214):c.3256A>G (p.Ile1086Val)	NUP214 (I1076V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203155	NM_005085.4(NUP214):c.3274G>C (p.Ala1092Pro)	NUP214 (A1118P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048609	NM_005085.4(NUP214):c.3344C>T (p.Thr1115Met)	NUP214 (T1105M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2407199	NM_005085.4(NUP214):c.3409A>G (p.Thr1137Ala)	LOC108491830, NUP214 (T1127A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454900	NM_005085.4(NUP214):c.3620C>T (p.Ser1207Phe)	NUP214 (S1223F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203157	NM_005085.4(NUP214):c.3695C>T (p.Pro1232Leu)	NUP214 (P1248L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203158	NM_005085.4(NUP214):c.3785A>G (p.Lys1262Arg)	NUP214 (K1278R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399290	NM_005085.4(NUP214):c.3845A>C (p.Asn1282Thr)	NUP214 (N108T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365534	NM_005085.4(NUP214):c.3848C>T (p.Thr1283Ile)	NUP214 (T109I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257159	NM_005085.4(NUP214):c.3851C>T (p.Thr1284Ile)	NUP214 (T1274I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310554	NM_005085.4(NUP214):c.3940C>G (p.Pro1314Ala)	NUP214 (P1304A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284151	NM_005085.4(NUP214):c.3941C>T (p.Pro1314Leu)	NUP214 (P1304L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616313	NM_005085.4(NUP214):c.3965T>G (p.Phe1322Cys)	NUP214 (F1322C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203159	NM_005085.4(NUP214):c.3971G>C (p.Ser1324Thr)	NUP214 (S1314T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209751	NM_005085.4(NUP214):c.4050T>A (p.Asn1350Lys)	NUP214 (N1340K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547521	NM_005085.4(NUP214):c.4078A>G (p.Thr1360Ala)	NUP214 (T1376A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355315	NM_005085.4(NUP214):c.4102G>A (p.Val1368Met)	NUP214 (V1384M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253723	NM_005085.4(NUP214):c.4111G>C (p.Gly1371Arg)	NUP214 (G197R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203161	NM_005085.4(NUP214):c.4145A>C (p.Lys1382Thr)	NUP214 (K1372T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302951	NM_005085.4(NUP214):c.4169C>T (p.Ser1390Phe)	NUP214 (S1390F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454754	NM_005085.4(NUP214):c.4208C>T (p.Thr1403Ile)	NUP214 (T229I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562222	NM_005085.4(NUP214):c.4212C>A (p.Ser1404Arg)	NUP214 (S1394R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337615	NM_005085.4(NUP214):c.4238G>A (p.Ser1413Asn)	NUP214 (S1403N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265497	NM_005085.4(NUP214):c.4332A>T (p.Gln1444His)	NUP214 (Q1434H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536646	NM_005085.4(NUP214):c.4340A>G (p.Asn1447Ser)	NUP214 (N1437S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372112	NM_005085.4(NUP214):c.4459A>G (p.Met1487Val)	NUP214 (M1477V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203162	NM_005085.4(NUP214):c.4495T>C (p.Ser1499Pro)	NUP214 (S1515P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557278	NM_005085.4(NUP214):c.4576C>G (p.Leu1526Val)	NUP214 (L1526V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203163	NM_005085.4(NUP214):c.4585G>A (p.Ala1529Thr)	NUP214 (A1519T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603243	NM_005085.4(NUP214):c.4843C>T (p.Pro1615Ser)	NUP214 (P1615S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266497	NM_005085.4(NUP214):c.4862C>T (p.Thr1621Met)	NUP214 (T1611M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203165	NM_005085.4(NUP214):c.4868T>C (p.Ile1623Thr)	NUP214 (I449T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289354	NM_005085.4(NUP214):c.4892A>G (p.Glu1631Gly)	NUP214 (E457G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596834	NM_005085.4(NUP214):c.4933T>G (p.Phe1645Val)	NUP214 (F1661V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555013	NM_005085.4(NUP214):c.4999G>A (p.Ala1667Thr)	NUP214 (A1667T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266976	NM_005085.4(NUP214):c.5000C>A (p.Ala1667Asp)	NUP214 (A1657D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220577	NM_005085.4(NUP214):c.5012C>T (p.Thr1671Met)	NUP214 (T497M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361398	NM_005085.4(NUP214):c.5017G>A (p.Val1673Met)	NUP214 (V1689M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2256719	NM_005085.4(NUP214):c.5017G>T (p.Val1673Leu)	NUP214 (V1673L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788556	NM_005085.4(NUP214):c.5017G>C (p.Val1673Leu)	NUP214 (V1673L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2253245	NM_005085.4(NUP214):c.5030T>C (p.Val1677Ala)	NUP214 (V1667A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293606	NM_005085.4(NUP214):c.5058T>G (p.Phe1686Leu)	NUP214 (F512L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225687	NM_005085.4(NUP214):c.5099C>T (p.Thr1700Ile)	NUP214 (T1700I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203167	NM_005085.4(NUP214):c.5158G>C (p.Val1720Leu)	NUP214 (V1736L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529067	NM_005085.4(NUP214):c.5173A>C (p.Thr1725Pro)	NUP214 (T551P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409406	NM_005085.4(NUP214):c.5173A>G (p.Thr1725Ala)	NUP214 (T1725A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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