CEP350 — 424 ClinVar variants

All ClinVar germline CEP350 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 340 flagged for review →

2 Benign · 22 Likely benign · 400 Uncertain significance

Full CEP350 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 340

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 326

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 326

Predictors split 14

The independent predictors disagree with each other — read with care.

All CEP350 variants

Benign 2

p.Asp522Gly Multiple submitters
p.Lys2735Asn Multiple submitters

Likely benign 22

p.His1462Arg Multiple submitters
p.Ile1905Met Multiple submitters
p.Arg174Gln Single submitter
p.Arg2587Gln Single submitter
p.Asn241Ser Single submitter
p.Asn2449Ser Single submitter
p.Asn2739Ser Single submitter
p.Asn2929Asp Single submitter
p.Asn320Ser Single submitter
p.Gln2995= Single submitter
p.Ile2446Val Single submitter
p.Ile2623Thr Single submitter
p.Ile526Val Single submitter
p.Leu1427= Single submitter
p.Leu2162= Single submitter
p.Leu666= Single submitter
p.Met219Val Single submitter
p.Met2338Val Single submitter
p.Ser1275= Single submitter
p.Thr229Ala Single submitter
p.Thr2894= Single submitter
p.Val1468Met Single submitter

Uncertain significance 400

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1096Thr Single submitter ⚠
p.Ala1160Thr Single submitter ⚠
p.Ala1163Pro Single submitter ⚠
p.Ala1163Val Single submitter ⚠
p.Ala1303Gly Single submitter ⚠
p.Ala1338Val Single submitter ⚠
p.Ala1387Pro Single submitter
p.Ala1387Val Single submitter ⚠
p.Ala1391Thr Single submitter ⚠
p.Ala1391Val Single submitter ⚠
p.Ala1755Thr Single submitter
p.Ala1798Thr Single submitter ⚠
p.Ala2146Glu Single submitter ⚠
p.Ala2274Gly Single submitter ⚠
p.Ala2855Asp Single submitter
p.Ala2915Thr Single submitter ⚠
p.Ala359Thr Single submitter ⚠
p.Ala373Val Single submitter ⚠
p.Ala377Thr Single submitter ⚠
p.Ala39Thr Single submitter ⚠
p.Ala440Thr Single submitter ⚠
p.Ala505Gly Single submitter ⚠
p.Ala505Val Single submitter ⚠
p.Ala617Pro Single submitter
p.Ala830Thr Single submitter ⚠
p.Arg1092Gln Single submitter ⚠
p.Arg1092Trp Single submitter ⚠
p.Arg1167Cys Single submitter ⚠
p.Arg1167His Single submitter ⚠
p.Arg121Cys Single submitter ⚠
p.Arg125Gly Single submitter ⚠
p.Arg125His Single submitter ⚠
p.Arg1328His Single submitter
p.Arg1344Cys Single submitter ⚠
p.Arg1375Cys Single submitter ⚠
p.Arg1375His Single submitter ⚠
p.Arg1396Lys Single submitter ⚠
p.Arg1402Gln Single submitter ⚠
p.Arg1421Gln Single submitter ⚠
p.Arg1421Trp Single submitter ⚠
p.Arg1460Thr Single submitter ⚠
p.Arg1482Gln Single submitter ⚠
p.Arg1482Trp Single submitter ⚠
p.Arg1495Gly Single submitter ⚠
p.Arg1548His Single submitter ⚠
p.Arg1635Gly Single submitter
p.Arg1703Cys Single submitter
p.Arg1740Gln Single submitter
p.Arg1759His Single submitter
p.Arg1768Trp Single submitter ⚠
p.Arg177Trp Single submitter ⚠
p.Arg1827Cys Single submitter ⚠
p.Arg1852His Single submitter ⚠
p.Arg1890Cys Single submitter ⚠
p.Arg200Gly Single submitter ⚠
p.Arg2062Trp Single submitter ⚠
p.Arg2198Gly Single submitter ⚠
p.Arg2210Ser Single submitter ⚠
p.Arg2332Lys Single submitter ⚠
p.Arg2604Ile Single submitter ⚠
p.Arg2969Gly Single submitter ⚠
p.Arg3010Gln Single submitter
p.Arg3056Ser Single submitter
p.Arg400Gln Single submitter ⚠
p.Arg458Ile Single submitter ⚠
p.Arg458Ser Single submitter ⚠
p.Arg496Gln Single submitter ⚠
p.Arg496Trp Single submitter ⚠
p.Arg597Gln Single submitter
p.Arg602Gly Single submitter
p.Arg634Trp Single submitter
p.Arg704Cys Single submitter ⚠
p.Arg73Gln Single submitter ⚠
p.Arg824Gly Single submitter ⚠
p.Arg892Gly Single submitter ⚠
p.Arg99Gln Single submitter ⚠
p.Asn119Thr Single submitter ⚠
p.Asn1293Asp Single submitter ⚠
p.Asn1310Asp Single submitter ⚠
p.Asn1814His Single submitter ⚠
p.Asn2193Ser Single submitter ⚠
p.Asn2236Ser Single submitter ⚠
p.Asn227Lys Single submitter ⚠
p.Asn266Ser Single submitter ⚠
p.Asn2728Lys Single submitter ⚠
p.Asn2768His Single submitter ⚠
p.Asn300Ser Single submitter ⚠
p.Asn3016Asp Single submitter ⚠
p.Asn317Lys Single submitter ⚠
p.Asn520His Single submitter
p.Asn553Ser Single submitter ⚠
p.Asn579Ser Single submitter ⚠
p.Asp1001Asn Single submitter ⚠
p.Asp1001Val Single submitter ⚠
p.Asp1137Asn Single submitter ⚠
p.Asp1198Asn Single submitter ⚠
p.Asp1228Asn Single submitter ⚠
p.Asp1447Glu Single submitter ⚠
p.Asp2059Gly Single submitter
p.Asp2170Gly Single submitter ⚠
p.Asp2201Glu Single submitter ⚠
p.Asp2273Asn Single submitter ⚠
p.Asp2302Asn Single submitter ⚠
p.Asp2395Gly Single submitter ⚠
p.Asp2581Tyr Single submitter ⚠
p.Asp2622Asn Single submitter ⚠
p.Asp2683Ala Single submitter ⚠
p.Asp2687His Single submitter ⚠
p.Asp2800Glu Single submitter ⚠
p.Asp2977His Single submitter
p.Asp32Asn Single submitter ⚠
p.Asp352His Single submitter
p.Asp592Gly Single submitter
p.Asp727Asn Single submitter ⚠
p.Asp884Val Single submitter ⚠
p.Asp908Ala Single submitter ⚠
p.Cys179Arg Single submitter ⚠
p.Cys179Tyr Single submitter ⚠
p.Cys2716Tyr Single submitter ⚠
p.Cys413Tyr Single submitter ⚠
p.Cys952Arg Single submitter ⚠
p.Gln1225Arg Single submitter ⚠
p.Gln1251Arg Single submitter ⚠
p.Gln1359His Single submitter ⚠
p.Gln1418Arg Single submitter ⚠
p.Gln1428Arg Single submitter ⚠
p.Gln2017His Single submitter ⚠
p.Gln2561Glu Single submitter ⚠
p.Gln2589Pro Single submitter ⚠
p.Gln2653Arg Single submitter ⚠
p.Gln2995His Single submitter
p.Gln3073Leu Single submitter
p.Gln3087Glu Single submitter
p.Gln598Arg Single submitter
p.Gln658Arg Single submitter
p.Gln864His Single submitter ⚠
p.Gln950Arg Single submitter ⚠
p.Glu113Asp Single submitter ⚠
p.Glu158Lys Single submitter ⚠
p.Glu1692Gly Single submitter
p.Glu1706Gly Single submitter
p.Glu1711Asp Single submitter ⚠
p.Glu1721Gln Single submitter
p.Glu1873Gly Single submitter
p.Glu2081Lys Single submitter
p.Glu2163Lys Single submitter ⚠
p.Glu2278Gly Single submitter ⚠
p.Glu2377Lys Single submitter ⚠
p.Glu2457Gly Single submitter ⚠
p.Glu2594Lys Single submitter ⚠
p.Glu2749Lys Single submitter
p.Glu2824Gly Single submitter ⚠
p.Glu2892Lys Single submitter ⚠
p.Glu2989Lys Single submitter
p.Glu3066Gly Single submitter ⚠
p.Glu606Ala Single submitter
p.Gly1052Arg Single submitter ⚠
p.Gly1079Glu Single submitter ⚠
p.Gly1205Asp Single submitter ⚠
p.Gly1354Asp Single submitter
p.Gly1545Val Single submitter ⚠
p.Gly1799Ala Single submitter ⚠
p.Gly1799Arg Single submitter
p.Gly1967Ala Single submitter ⚠
p.Gly2250Ala Single submitter ⚠
p.Gly2517Ser Single submitter ⚠
p.Gly2528Arg Single submitter ⚠
p.Gly2846Ala Single submitter
p.Gly2941Val Single submitter
p.Gly2955Asp Single submitter ⚠
p.Gly3091Arg Single submitter
p.Gly457Glu Single submitter ⚠
p.Gly976Val Single submitter ⚠
p.His1044Leu Single submitter ⚠
p.His1239Tyr Single submitter ⚠
p.His1480Arg Single submitter ⚠
p.His150Arg Single submitter ⚠
p.His1645Gln Single submitter ⚠
p.His1645Leu Single submitter ⚠
p.His2451Arg Single submitter ⚠
p.His2475Pro Single submitter ⚠
p.His2554Arg Single submitter ⚠
p.His2650Arg Single submitter ⚠
p.His278Arg Single submitter ⚠
p.His278Leu Single submitter ⚠
p.His308Arg Single submitter ⚠
p.His419Asn Single submitter ⚠
p.His481Tyr Single submitter ⚠
p.His678Arg Single submitter ⚠
p.His772Arg Single submitter ⚠
p.Ile1314Met Single submitter ⚠
p.Ile1355Met Single submitter ⚠
p.Ile1463Val Single submitter ⚠
p.Ile1573Thr Single submitter ⚠
p.Ile1889Val Single submitter ⚠
p.Ile189Val Single submitter ⚠
p.Ile1944Val Single submitter ⚠
p.Ile1961Met Single submitter ⚠
p.Ile2373Val Single submitter ⚠
p.Ile27Arg Single submitter ⚠
p.Ile27Thr Single submitter ⚠
p.Ile2963Val Single submitter ⚠
p.Ile3025Thr Single submitter
p.Ile380Thr Single submitter ⚠
p.Ile380Val Single submitter ⚠
p.Ile600Val Single submitter
p.Leu1258Val Single submitter ⚠
p.Leu1385Pro Single submitter ⚠
p.Leu1427Gln Single submitter ⚠
p.Leu1492Pro Single submitter ⚠
p.Leu1659Pro Single submitter ⚠
p.Leu1701Phe Single submitter ⚠
p.Leu1760Phe Single submitter
p.Leu1974Val Single submitter ⚠
p.Leu2209His Single submitter ⚠
p.Leu2223Ile Single submitter ⚠
p.Leu2232Phe Single submitter ⚠
p.Leu2444His Single submitter ⚠
p.Leu2444Val Single submitter ⚠
p.Leu2694Ser Single submitter ⚠
p.Leu285Arg Single submitter
p.Leu2913Ser Single submitter ⚠
p.Leu3116Phe Single submitter
p.Leu41Val Single submitter ⚠
p.Leu665Pro Single submitter
p.Leu763Trp Single submitter ⚠
p.Leu910Phe Single submitter ⚠
p.Lys1015Asn Single submitter ⚠
p.Lys1175Met Single submitter ⚠
p.Lys1511Glu Single submitter ⚠
p.Lys1536Gln Single submitter ⚠
p.Lys1714Glu Single submitter
p.Lys1812Glu Single submitter ⚠
p.Lys1848Glu Single submitter ⚠
p.Lys1879Arg Single submitter ⚠
p.Lys1908Glu Single submitter ⚠
p.Lys1911Glu Single submitter ⚠
p.Lys1912Glu Single submitter ⚠
p.Lys20Arg Single submitter ⚠
p.Lys2133Arg Single submitter ⚠
p.Lys2270Arg Single submitter ⚠
p.Lys2301Thr Single submitter ⚠
p.Lys230Arg Single submitter ⚠
p.Lys230Gln Single submitter ⚠
p.Lys2714Glu Single submitter ⚠
p.Lys2742Glu Single submitter ⚠
p.Lys2968Glu Single submitter ⚠
p.Lys3042Gln Single submitter
p.Lys393Asn Single submitter ⚠
p.Lys502Asn Single submitter ⚠
p.Lys587Glu Single submitter ⚠
p.Lys642Glu Single submitter
p.Lys668Glu Single submitter ⚠
p.Met1283Ile Single submitter ⚠
p.Met1693Thr Single submitter ⚠
p.Met2038Val Single submitter ⚠
p.Met2338Ile Single submitter ⚠
p.Met2419Val Single submitter ⚠
p.Met2833Lys Single submitter ⚠
p.Met2999Leu Single submitter ⚠
p.Met3048Val Single submitter
p.Met443Val Single submitter ⚠
p.Phe2612Leu Single submitter ⚠
p.Phe2612Ser Single submitter ⚠
p.Phe2816Cys Single submitter ⚠
p.Phe794Tyr Single submitter ⚠
p.Phe889Tyr Single submitter ⚠
p.Pro1027Arg Single submitter ⚠
p.Pro1040Thr Single submitter ⚠
p.Pro1053Thr Single submitter ⚠
p.Pro1285Leu Single submitter ⚠
p.Pro1295Ser Single submitter ⚠
p.Pro1829Ser Single submitter ⚠
p.Pro2227Ser Single submitter ⚠
p.Pro2416Leu Single submitter ⚠
p.Pro2483Ser Single submitter ⚠
p.Pro2510Ser Single submitter
p.Pro3015Ser Single submitter
p.Pro312Gln Single submitter ⚠
p.Pro312Thr Single submitter ⚠
p.Pro334Ser Single submitter ⚠
p.Pro336Ser Single submitter
p.Pro398Ala Single submitter ⚠
p.Pro583Ser Single submitter
p.Pro651Ser Single submitter ⚠
p.Pro674Leu Single submitter ⚠
p.Pro719Leu Single submitter ⚠
p.Pro750His Single submitter ⚠
p.Pro796Arg Single submitter ⚠
p.Pro879Leu Single submitter ⚠
p.Pro91Ala Single submitter ⚠
p.Pro923Ser Single submitter ⚠
p.Pro928Gln Single submitter ⚠
p.Ser1064Asn Single submitter ⚠
p.Ser114Asn Single submitter ⚠
p.Ser1237Ala Single submitter ⚠
p.Ser1244Leu Single submitter ⚠
p.Ser1280Leu Single submitter ⚠
p.Ser1281Leu Single submitter ⚠
p.Ser1317Pro Single submitter ⚠