CEP192 — 355 ClinVar variants

All ClinVar germline CEP192 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 315 flagged for review →

6 Benign · 35 Likely benign · 314 Uncertain significance

Full CEP192 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 315

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 244

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 244

Predictors split 71

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

All CEP192 variants

Benign 6

p.Asn1883Ser Multiple submitters
p.Gly1571= Multiple submitters
p.Leu111Phe Multiple submitters
p.Pro1159Arg Multiple submitters
p.Pro613= Multiple submitters
p.Thr1053Ala Multiple submitters

Likely benign 35

p.Ala394Val Single submitter
p.Ala897Thr Single submitter
p.Arg1085Gln Single submitter
p.Arg1264Gln Single submitter
p.Arg564His Single submitter
p.Arg956Cys Single submitter
p.Asn113Asp Single submitter
p.Asn380Ser Single submitter
p.Asn777Ser Single submitter
p.Asp2218Asn Single submitter
p.Gly141Asp Single submitter
p.Gly547= Single submitter
p.His194Gln Single submitter
p.Ile1107Val Single submitter
p.Ile1193Val Single submitter
p.Ile1199Val Single submitter
p.Ile159Val Single submitter
p.Ile312Val Single submitter
p.Leu1027Ser Single submitter
p.Leu1779= Single submitter
p.Leu1985Phe Single submitter
p.Leu2491= Single submitter
p.Met1243Val Single submitter
p.Met1578Val Single submitter
p.Ser1316Pro Single submitter
p.Ser2085= Single submitter
p.Ser695Asn Single submitter
p.Ser804Gly Single submitter
p.Thr1547Met Single submitter
p.Thr549Met Single submitter ⚠
p.Thr830Ala Single submitter
p.Val1553Ile Single submitter
p.Val1686Ile Single submitter
p.Val1904Ile Single submitter
p.Val832Ile Single submitter

Uncertain significance 314

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

p.Gly37Val Multiple submitters ⚠
p.Ala1008Val Single submitter ⚠
p.Ala1086Thr Single submitter ⚠
p.Ala1207Gly Single submitter ⚠
p.Ala1282Gly Single submitter ⚠
p.Ala1300Gly Single submitter ⚠
p.Ala135Val Single submitter ⚠
p.Ala1660Gly Single submitter ⚠
p.Ala2089Pro Single submitter ⚠
p.Ala2184Val Single submitter ⚠
p.Ala2312Val Single submitter ⚠
p.Ala2424Ser Single submitter ⚠
p.Ala2513Val Single submitter ⚠
p.Ala364Thr Single submitter ⚠
p.Ala519Val Single submitter ⚠
p.Ala740Gly Single submitter ⚠
p.Ala83Val Single submitter ⚠
p.Arg1039Thr Single submitter ⚠
p.Arg1264Trp Single submitter ⚠
p.Arg1402Cys Single submitter ⚠
p.Arg1402His Single submitter ⚠
p.Arg1426Cys Single submitter ⚠
p.Arg1525Gln Single submitter ⚠
p.Arg1666Gly Single submitter ⚠
p.Arg1848Gly Single submitter ⚠
p.Arg1855Ser Single submitter ⚠
p.Arg1864Gln Single submitter ⚠
p.Arg1916Cys Single submitter ⚠
p.Arg2115Trp Single submitter ⚠
p.Arg2152Ser Single submitter ⚠
p.Arg2357Gly Single submitter ⚠
p.Arg2359Ser Single submitter ⚠
p.Arg2418Lys Single submitter ⚠
p.Arg2427Cys Single submitter ⚠
p.Arg2427His Single submitter ⚠
p.Arg2437His Single submitter ⚠
p.Arg2464Gln Single submitter ⚠
p.Arg381Ser Single submitter ⚠
p.Arg450Gln Single submitter ⚠
p.Arg578Cys Single submitter ⚠
p.Arg578His Single submitter ⚠
p.Arg629Gly Single submitter ⚠
p.Arg700Ser Single submitter ⚠
p.Arg859Gly Single submitter ⚠
p.Arg870Gly Single submitter ⚠
p.Arg975Cys Single submitter ⚠
p.Asn1242Thr Single submitter ⚠
p.Asn1334His Single submitter ⚠
p.Asn1339Ser Single submitter ⚠
p.Asn1628Ser Single submitter ⚠
p.Asn1792Lys Single submitter ⚠
p.Asn2498Ser Single submitter ⚠
p.Asn400Ser Single submitter ⚠
p.Asn541Ile Single submitter ⚠
p.Asn599Ser Single submitter ⚠
p.Asn840Ser Single submitter ⚠
p.Asn893Asp Single submitter ⚠
p.Asn954Asp Single submitter ⚠
p.Asp1061Glu Single submitter ⚠
p.Asp1065Gly Single submitter ⚠
p.Asp1139Glu Single submitter ⚠
p.Asp1194Gly Single submitter ⚠
p.Asp1203Gly Single submitter ⚠
p.Asp1621His Single submitter ⚠
p.Asp1949Glu Single submitter ⚠
p.Asp2037Tyr Single submitter ⚠
p.Asp2086Asn Single submitter ⚠
p.Asp2218Val Single submitter ⚠
p.Asp376Gly Single submitter ⚠
p.Asp424Glu Single submitter ⚠
p.Asp568Val Single submitter ⚠
p.Asp707Asn Single submitter ⚠
p.Asp821Glu Single submitter ⚠
p.Asp878Val Single submitter ⚠
p.Cys1189Tyr Single submitter ⚠
p.Cys2182Ser Single submitter ⚠
p.Cys352Arg Single submitter ⚠
p.Cys352Phe Single submitter ⚠
p.Gln1197Arg Single submitter ⚠
p.Gln1214Arg Single submitter ⚠
p.Gln1586Glu Single submitter ⚠
p.Gln1934Arg Single submitter ⚠
p.Gln2046Arg Single submitter ⚠
p.Glu1069Lys Single submitter ⚠
p.Glu1119Asp Single submitter ⚠
p.Glu1491Lys Single submitter ⚠
p.Glu1723Lys Single submitter ⚠
p.Glu1908Asp Single submitter ⚠
p.Glu2013Lys Single submitter ⚠
p.Glu2062Lys Single submitter ⚠
p.Glu2071Asp Single submitter ⚠
p.Glu2135Lys Single submitter ⚠
p.Glu2166Asp Single submitter ⚠
p.Glu2186Gln Single submitter ⚠
p.Glu2295Lys Single submitter ⚠
p.Glu2297Gln Single submitter ⚠
p.Glu2521Lys Single submitter ⚠
p.Glu266Asp Single submitter ⚠
p.Glu477Lys Single submitter ⚠
p.Glu617Lys Single submitter ⚠
p.Glu66Gly Single submitter ⚠
p.Glu771Val Single submitter ⚠
p.Glu839Gln Single submitter ⚠
p.Glu839Lys Single submitter ⚠
p.Glu925Asp Single submitter ⚠
p.Gly1145Arg Single submitter ⚠
p.Gly1283Asp Single submitter ⚠
p.Gly1289Ser Single submitter ⚠
p.Gly1293Asp Single submitter ⚠
p.Gly1324Ala Single submitter ⚠
p.Gly134Arg Single submitter ⚠
p.Gly134Glu Single submitter ⚠
p.Gly1387Arg Single submitter ⚠
p.Gly1643Glu Single submitter ⚠
p.Gly1705Arg Single submitter ⚠
p.Gly1705Val Single submitter ⚠
p.Gly1775Arg Single submitter ⚠
p.Gly2210Cys Single submitter ⚠
p.Gly598Ser Single submitter ⚠
p.Gly775Glu Single submitter ⚠
p.His1248Gln Single submitter ⚠
p.His1281Arg Single submitter ⚠
p.His1382Arg Single submitter ⚠
p.His1439Arg Single submitter ⚠
p.His1833Tyr Single submitter ⚠
p.His2014Tyr Single submitter ⚠
p.His2299Leu Single submitter ⚠
p.His2471Tyr Single submitter ⚠
p.His375Arg Single submitter ⚠
p.His638Arg Single submitter ⚠
p.His761Asp Single submitter ⚠
p.Ile1066Asn Single submitter ⚠
p.Ile1074Val Single submitter ⚠
p.Ile1388Phe Single submitter ⚠
p.Ile1436Val Single submitter ⚠
p.Ile1536Val Single submitter ⚠
p.Ile1604Leu Single submitter ⚠
p.Ile1747Thr Single submitter ⚠
p.Ile174Leu Single submitter ⚠
p.Ile1838Val Single submitter ⚠
p.Ile1972Val Single submitter ⚠
p.Ile2010Val Single submitter ⚠
p.Ile2055Thr Single submitter ⚠
p.Ile2338Val Single submitter ⚠
p.Ile2410Thr Single submitter ⚠
p.Ile436Phe Single submitter ⚠
p.Ile537Thr Single submitter ⚠
p.Ile884Val Single submitter ⚠
p.Leu1040Pro Single submitter ⚠
p.Leu1090Trp Single submitter ⚠
p.Leu1169Val Single submitter ⚠
p.Leu1328Val Single submitter ⚠
p.Leu139Ser Single submitter ⚠
p.Leu1534Pro Single submitter ⚠
p.Leu1569Pro Single submitter ⚠
p.Leu1670Phe Single submitter ⚠
p.Leu1849Ser Single submitter ⚠
p.Leu1875Ser Single submitter ⚠
p.Leu192Arg Single submitter ⚠
p.Leu2000Val Single submitter ⚠
p.Leu2192His Single submitter ⚠
p.Leu2413Phe Single submitter ⚠
p.Leu32Pro Single submitter ⚠
p.Leu496Phe Single submitter ⚠
p.Leu785Phe Single submitter ⚠
p.Leu918Pro Single submitter ⚠
p.Lys1063Thr Single submitter ⚠
p.Lys1550Arg Single submitter ⚠
p.Lys1601Glu Single submitter ⚠
p.Lys1661Arg Single submitter ⚠
p.Lys1752Arg Single submitter ⚠
p.Lys1870Arg Single submitter ⚠
p.Lys1926Gln Single submitter ⚠
p.Lys2054Arg Single submitter ⚠
p.Lys273Arg Single submitter ⚠
p.Lys685Glu Single submitter ⚠
p.Lys896Ile Single submitter ⚠
p.Met1240Val Single submitter ⚠
p.Met1852Thr Single submitter ⚠
p.Met2147Ile Single submitter ⚠
p.Met2205Val Single submitter ⚠
p.Met2264Val Single submitter ⚠
p.Met2378Val Single submitter ⚠
p.Met324Thr Single submitter ⚠
p.Phe1844Cys Single submitter ⚠
p.Phe2206Cys Single submitter ⚠
p.Phe2511Ser Single submitter ⚠
p.Phe4Leu Single submitter ⚠
p.Phe584Leu Single submitter ⚠
p.Phe69Tyr Single submitter ⚠
p.Pro1022Ser Single submitter ⚠
p.Pro1132Ser Single submitter ⚠
p.Pro1227Leu Single submitter ⚠
p.Pro1278Ala Single submitter ⚠
p.Pro128Arg Single submitter ⚠
p.Pro1303Leu Single submitter ⚠
p.Pro1350Leu Single submitter ⚠
p.Pro1360Arg Single submitter ⚠
p.Pro1375Ser Single submitter ⚠
p.Pro1450Leu Single submitter ⚠
p.Pro1561Thr Single submitter ⚠
p.Pro1580Ala Single submitter ⚠
p.Pro1671Thr Single submitter ⚠
p.Pro1687Arg Single submitter ⚠
p.Pro172Thr Single submitter ⚠
p.Pro1941Ser Single submitter ⚠
p.Pro1967Ser Single submitter ⚠
p.Pro2120Leu Single submitter ⚠
p.Pro2170Ser Single submitter ⚠
p.Pro2207Leu Single submitter ⚠
p.Pro2337Ser Single submitter ⚠
p.Pro2372Arg Single submitter ⚠
p.Pro247Leu Single submitter ⚠
p.Pro2481Thr Single submitter ⚠
p.Pro249Leu Single submitter ⚠
p.Pro2505Leu Single submitter ⚠
p.Pro698Ser Single submitter ⚠
p.Pro72Ala Single submitter ⚠
p.Pro731Ser Single submitter ⚠
p.Pro814Leu Single submitter ⚠
p.Pro824Leu Single submitter ⚠
p.Pro990Ala Single submitter ⚠
p.Ser1014Leu Single submitter ⚠
p.Ser1033Leu Single submitter ⚠
p.Ser1106Pro Single submitter ⚠
p.Ser1122Thr Single submitter ⚠
p.Ser1137Asn Single submitter ⚠
p.Ser1274Ile Single submitter ⚠
p.Ser1316Thr Single submitter ⚠
p.Ser1351Thr Single submitter ⚠
p.Ser1367Leu Single submitter ⚠
p.Ser1395Arg Single submitter ⚠
p.Ser1412Arg Single submitter ⚠
p.Ser1414Thr Single submitter ⚠
p.Ser1451Phe Single submitter ⚠
p.Ser1461Arg Single submitter ⚠
p.Ser1468Leu Single submitter ⚠
p.Ser1549Cys Single submitter ⚠
p.Ser1582Arg Single submitter ⚠
p.Ser1606Phe Single submitter ⚠
p.Ser1749Leu Single submitter ⚠
p.Ser1865Pro Single submitter ⚠
p.Ser1914Cys Single submitter ⚠
p.Ser2194Ile Single submitter ⚠
p.Ser2198Pro Single submitter ⚠
p.Ser2250Phe Single submitter ⚠
p.Ser2269Pro Single submitter ⚠
p.Ser2310Tyr Single submitter ⚠
p.Ser290Phe Single submitter ⚠
p.Ser309Thr Single submitter ⚠
p.Ser563Pro Single submitter ⚠
p.Ser575Asn Single submitter ⚠
p.Ser628Thr Single submitter ⚠
p.Ser773Gly Single submitter ⚠
p.Ser833Asn Single submitter ⚠
p.Ser917Tyr Single submitter ⚠
p.Ser946Gly Single submitter ⚠
p.Thr1002Met Single submitter ⚠
p.Thr1183Ala Single submitter ⚠
p.Thr1183Ile Single submitter ⚠
p.Thr1354Ser Single submitter ⚠
p.Thr1400Ala Single submitter ⚠
p.Thr1529Ser Single submitter ⚠
p.Thr1630Met Single submitter ⚠
p.Thr1655Ala Single submitter ⚠
p.Thr1825Ala Single submitter ⚠
p.Thr1962Ser Single submitter ⚠
p.Thr1982Ala Single submitter ⚠
p.Thr1982Ile Single submitter ⚠
p.Thr2033Ala Single submitter ⚠
p.Thr2177Met Single submitter ⚠
p.Thr2239Ala Single submitter ⚠
p.Thr2280Ser Single submitter ⚠
p.Thr2381Met Single submitter ⚠
p.Thr2404Met Single submitter ⚠
p.Thr258Ala Single submitter ⚠
p.Thr416Met Single submitter ⚠
p.Thr446Ala Single submitter ⚠
p.Thr554Ala Single submitter ⚠
p.Thr688Ala Single submitter ⚠
p.Thr717Ile Single submitter ⚠
p.Thr830Ile Single submitter ⚠
p.Tyr1738Cys Single submitter ⚠
p.Tyr223Ser Single submitter ⚠
p.Tyr2362Cys Single submitter ⚠
p.Tyr241His Single submitter ⚠
p.Tyr487Cys Single submitter ⚠
p.Tyr487His Single submitter ⚠
p.Tyr56Cys Single submitter ⚠
p.Tyr576Cys Single submitter ⚠
p.Tyr784Cys Single submitter ⚠
p.Val1372Phe Single submitter ⚠
p.Val1420Met Single submitter ⚠
p.Val1455Ala Single submitter ⚠
p.Val1497Ile Single submitter ⚠
p.Val1504Ile Single submitter ⚠
p.Val1530Met Single submitter ⚠
p.Val1632Ile Single submitter ⚠
p.Val1632Leu Single submitter ⚠
p.Val1662Leu Single submitter ⚠