EP400 — 621 ClinVar variants
All ClinVar germline EP400 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
4 Conflicting · 41 Benign · 8 Benign/Likely benign · 112 Likely benign · 456 Uncertain significance
Full EP400 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll EP400 variants
Conflicting classifications of pathogenicity 4
- p.Ala1547Val Single submitter
- p.Ala2152Thr Single submitter
- p.Arg324Gly Single submitter
- p.Thr2750Met Single submitter
Benign 41
- c.1435+8G>A Multiple submitters
- c.7027-9C>T Multiple submitters
- p.Ala1764= Multiple submitters
- p.Arg485= Multiple submitters
- p.Asn86Ser Multiple submitters
- p.Asp2151= Multiple submitters
- p.Gln2728= Multiple submitters
- p.Ile1013= Multiple submitters
- p.Pro1586= Multiple submitters
- p.Pro1812= Multiple submitters
- p.Pro2218= Multiple submitters
- p.Pro2805= Multiple submitters
- p.Pro581Leu Multiple submitters
- p.Pro581Thr Multiple submitters
- p.Pro593= Multiple submitters
- p.Thr124= Multiple submitters
- p.Thr1441= Multiple submitters
- p.Thr2585= Multiple submitters
- p.Ala3046= Single submitter
- p.Leu1714= Single submitter
- p.Leu1736= Single submitter
- p.Phe2311= Single submitter
- p.Pro1659= Single submitter
- p.Pro2472= Single submitter
- p.Pro2795= Single submitter
- p.Ser3078= Single submitter
- p.Ser78= Single submitter
- p.Thr2828= Single submitter
- p.Thr2839= Single submitter
- c.5584+6C>T No assertion criteria EP400-related disorder
- c.8874+9G>A No assertion criteria EP400-related disorder
- c.-7G>A No assertion criteria EP400-related disorder
- p.Ala3094Thr No assertion criteria EP400-related disorder
- p.Gln2748_Thr2749insGlnGlnGln No assertion criteria EP400-related disorder
- p.Gln2748_Thr2749insGlnGlnGlnGln No assertion criteria EP400-related disorder
- p.Gln2748del No assertion criteria EP400-related disorder
- p.His31Pro No assertion criteria EP400-related disorder
- p.Pro2797= No assertion criteria EP400-related disorder
- p.Ser1808= No assertion criteria EP400-related disorder
- p.Thr2750= No assertion criteria EP400-related disorder
- p.Thr2808Ala No assertion criteria EP400-related disorder
Benign/Likely benign 8
- p.Ala1649Thr Multiple submitters
- p.Gln2727= Multiple submitters
- p.Gln2747_Gln2748dup Multiple submitters
- p.Gln2748dup Multiple submitters
- p.Pro1659Leu Multiple submitters
- p.Pro1701= Multiple submitters
- p.Pro2635= Multiple submitters
- p.Thr3042= Multiple submitters
Likely benign 112
- p.Ala146= Multiple submitters
- p.Ala244= Multiple submitters
- p.Ala2803= Multiple submitters
- p.Ala524= Multiple submitters
- p.Ala574Val Multiple submitters
- p.Pro2507= Multiple submitters
- p.Pro2509= Multiple submitters
- p.Pro2792= Multiple submitters
- p.Pro2796Ser Multiple submitters
- p.Thr297= Multiple submitters
- p.Val1157Ile Multiple submitters
- c.3126+8G>A Single submitter
- c.6207+7A>G Single submitter
- c.6450+7G>C Single submitter
- c.6630+8C>T Single submitter
- p.Ala1018Thr Single submitter
- p.Ala1415Val Single submitter
- p.Ala1481= Single submitter
- p.Ala1509= Single submitter
- p.Ala1647Val Single submitter
- p.Ala2561= Single submitter
- p.Ala2563Val Single submitter
- p.Ala2654Val Single submitter
- p.Ala2974Thr Single submitter
- p.Ala3086Thr Single submitter
- p.Ala450Thr Single submitter
- p.Ala457= Single submitter
- p.Ala524Thr Single submitter
- p.Arg1140= Single submitter
- p.Arg1750His Single submitter
- p.Arg1756His Single submitter
- p.Arg1757His Single submitter
- p.Arg1810Trp Single submitter
- p.Arg857Gln Single submitter
- p.Arg966Gln Single submitter
- p.Asn2329Ser Single submitter
- p.Asn2682Ser Single submitter
- p.Asn63Ser Single submitter
- p.Asp1212Gly Single submitter
- p.Asp915= Single submitter
- p.Cys20Phe Single submitter
- p.Gln2730= Single submitter
- p.Gln2748_Thr2749insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Single submitter
- p.Gln747= Single submitter
- p.Gly1648= Single submitter
- p.Gly1943= Single submitter
- p.Gly565Ser Single submitter
- p.Ile1324= Single submitter
- p.Ile1698Val Single submitter
- p.Ile201= Single submitter
- p.Leu1169Phe Single submitter
- p.Leu561= Single submitter
- p.Lys1143Arg Single submitter
- p.Lys2166Arg Single submitter
- p.Met1376Ile Single submitter
- p.Met2154Leu Single submitter
- p.Pro1688= Single submitter
- p.Pro2512= Single submitter
- p.Pro2515= Single submitter
- p.Pro2516= Single submitter
- p.Pro291Ser Single submitter
- p.Pro359Gln Single submitter
- p.Ser1213= Single submitter
- p.Ser1323Asn Single submitter
- p.Ser1620= Single submitter
- p.Ser1726= Single submitter
- p.Ser196= Single submitter
- p.Ser49= Single submitter
- p.Thr1941Ala Single submitter
- p.Thr214Ala Single submitter
- p.Thr2591Ala Single submitter
- p.Thr2867Ala Single submitter
- p.Thr2919= Single submitter
- p.Thr460Ala Single submitter
- p.Thr463= Single submitter
- p.Val2055= Single submitter
- p.Val83= Single submitter
- c.1436-8T>C No assertion criteria EP400-related disorder
- c.4691-10G>A No assertion criteria EP400-related disorder
- c.5110-9T>G No assertion criteria EP400-related disorder
- c.6207+9_6207+17del No assertion criteria EP400-related disorder
- c.-5T>C No assertion criteria EP400-related disorder
- p.Ala19= No assertion criteria EP400-related disorder
- p.Ala30= No assertion criteria EP400-related disorder
- p.Ala3040= No assertion criteria EP400-related disorder
- p.Ala513= No assertion criteria EP400-related disorder
- p.Ala671= No assertion criteria EP400-related disorder
- p.Asp444= No assertion criteria EP400-related disorder
- p.Cys1971= No assertion criteria EP400-related disorder
- p.Gln2511fs No assertion criteria EP400-related disorder
- p.Gln2725= No assertion criteria EP400-related disorder
- p.Gln2726= No assertion criteria EP400-related disorder
- p.Gln2729= No assertion criteria EP400-related disorder
- p.Gln2748_Thr2749insGln No assertion criteria EP400-related disorder
- p.Glu440= No assertion criteria EP400-related disorder
- p.Gly4= No assertion criteria EP400-related disorder
- p.Lys1402= No assertion criteria EP400-related disorder
- p.Pro34= No assertion criteria EP400-related disorder
- p.Pro41= No assertion criteria EP400-related disorder
- p.Ser1356= No assertion criteria EP400-related disorder
- p.Ser2084= No assertion criteria EP400-related disorder
- p.Ser2816= No assertion criteria EP400-related disorder
- p.Ser676= No assertion criteria EP400-related disorder
- p.Thr1474Met No assertion criteria EP400-related disorder
- p.Thr1904= No assertion criteria EP400-related disorder
- p.Thr2056= No assertion criteria EP400-related disorder
- p.Thr2568= No assertion criteria EP400-related disorder
- p.Thr2653= No assertion criteria EP400-related disorder
- p.Thr2830= No assertion criteria EP400-related disorder
- p.Thr3045= No assertion criteria EP400-related disorder
- p.Val2697Ala No assertion criteria EP400-related disorder
- p.Val441= No assertion criteria EP400-related disorder
Uncertain significance 456
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala154Thr Multiple submitters
- p.Thr664Ala Multiple submitters
- c.6450+2T>G Single submitter
- c.6451-2A>G Single submitter
- c.8749+1del Single submitter EP400-related disorder
- p.Ala1030Gly Single submitter
- p.Ala1349Val Single submitter
- p.Ala1357Thr Single submitter
- p.Ala1391Gly Single submitter
- p.Ala1461Val Single submitter
- p.Ala1481Thr Single submitter
- p.Ala1505Val Single submitter
- p.Ala1510Thr Single submitter
- p.Ala152Thr Single submitter
- p.Ala1538Gly Single submitter
- p.Ala1547Thr Single submitter
- p.Ala1611Val Single submitter
- p.Ala1627Thr Single submitter
- p.Ala1635Thr Single submitter
- p.Ala1660Ser Single submitter
- p.Ala1691Gly Single submitter
- p.Ala1796Ser Single submitter
- p.Ala1834Val Single submitter
- p.Ala2009Val Single submitter
- p.Ala202Thr Single submitter
- p.Ala2182Val Single submitter
- p.Ala2285Val Single submitter
- p.Ala2459Thr Single submitter
- p.Ala245Thr Single submitter
- p.Ala2487Thr Single submitter
- p.Ala2499Glu Single submitter
- p.Ala2531Val Single submitter
- p.Ala2561Val Single submitter
- p.Ala2574Val Single submitter
- p.Ala2593Val Single submitter
- p.Ala2604Thr Single submitter
- p.Ala2608Pro Single submitter
- p.Ala2636Thr Single submitter
- p.Ala2669Val Single submitter
- p.Ala2800Val Single submitter
- p.Ala2803Val Single submitter
- p.Ala2869Ser Single submitter
- p.Ala2878Val Single submitter
- p.Ala2903Thr Single submitter
- p.Ala2948Ser Single submitter
- p.Ala2961Thr Single submitter
- p.Ala2969Val Single submitter
- p.Ala2976Thr Single submitter
- p.Ala3030Val Single submitter
- p.Ala3044Val Single submitter
- p.Ala3046Val Single submitter
- p.Ala3077Thr Single submitter
- p.Ala3077Val Single submitter
- p.Ala308Thr Single submitter
- p.Ala378Thr Single submitter
- p.Ala43Thr Single submitter
- p.Ala471Val Single submitter
- p.Ala513Thr Single submitter
- p.Ala524Val Single submitter
- p.Ala619Val Single submitter
- p.Ala655Val Single submitter
- p.Ala711Val Single submitter
- p.Ala750Val Single submitter
- p.Ala755Val Single submitter
- p.Ala769Val Single submitter
- p.Ala801Gly Single submitter
- p.Ala801Val Single submitter
- p.Ala980Thr Single submitter
- p.Arg1125Cys Single submitter
- p.Arg1167Gly Single submitter
- p.Arg1167Trp Single submitter
- p.Arg1176Cys Single submitter
- p.Arg1187Cys Single submitter
- p.Arg1330Cys Single submitter
- p.Arg1341Trp Single submitter
- p.Arg1388Cys Single submitter
- p.Arg1401Gly Single submitter
- p.Arg1401Trp Single submitter
- p.Arg1416Gln Single submitter
- p.Arg1426Gly Single submitter
- p.Arg1440Leu Single submitter
- p.Arg1451Trp Single submitter
- p.Arg1469Trp Single submitter
- p.Arg151His Single submitter
- p.Arg1582Cys Single submitter
- p.Arg1677Cys Single submitter
- p.Arg1677His Single submitter
- p.Arg1723Gln Single submitter
- p.Arg1746Ser Single submitter
- p.Arg1810Leu Single submitter
- p.Arg1813Trp Single submitter
- p.Arg1847His Single submitter
- p.Arg1929Gln Single submitter
- p.Arg1929Trp Single submitter
- p.Arg2005Gln Single submitter
- p.Arg2022Gln Single submitter
- p.Arg2189Ter Single submitter
- p.Arg221Trp Single submitter
- p.Arg2284His Single submitter
- p.Arg2377Gln Single submitter
- p.Arg2377Ter Single submitter
- p.Arg2388His Single submitter
- p.Arg2617His Single submitter
- p.Arg2646Gln Single submitter
- p.Arg2850Gln Single submitter
- p.Arg485Cys Single submitter
- p.Arg660Trp Single submitter
- p.Arg705Gln Single submitter
- p.Arg748Cys Single submitter
- p.Arg748His Single submitter
- p.Arg771Cys Single submitter
- p.Arg818Cys Single submitter
- p.Arg821Met Single submitter
- p.Arg829Thr Single submitter
- p.Arg832Trp Single submitter
- p.Arg839Gln Single submitter
- p.Arg966Trp Single submitter
- p.Asn1384Ser Single submitter
- p.Asn1478Ser Single submitter
- p.Asn1721His Single submitter
- p.Asn1925Ser Single submitter
- p.Asn341Asp Single submitter
- p.Asn723Ser Single submitter
- p.Asn926Ser Single submitter
- p.Asn938His Single submitter
- p.Asp1003Asn Single submitter
- p.Asp1003Glu Single submitter
- p.Asp1003His Single submitter
- p.Asp1020Gly Single submitter
- p.Asp1020Val Single submitter
- p.Asp1212Asn Single submitter
- p.Asp1373His Single submitter
- p.Asp1790Asn Single submitter
- p.Asp1790Gly Single submitter
- p.Asp194Gly Single submitter
- p.Asp1972Asn Single submitter
- p.Asp2203Gly Single submitter
- p.Asp2221Asn Single submitter
- p.Asp2223Asn Single submitter
- p.Asp2227His Single submitter
- p.Asp3097Asn Single submitter
- p.Cys1158Tyr Single submitter
- p.Cys843Trp Single submitter
- p.Gln148Lys Single submitter
- p.Gln1585His Single submitter
- p.Gln1838fs Single submitter EP400-associated neurodevelopmental disorder
- p.Gln1858Arg Single submitter
- p.Gln1872His Single submitter
- p.Gln2423Lys Single submitter
- p.Gln2506His Single submitter
- p.Gln2506Pro Single submitter
- p.Gln2511His Single submitter
- p.Gln2511Pro Single submitter
- p.Gln2513His Single submitter
- p.Gln2513Pro Single submitter
- p.Gln2519His Single submitter
- p.Gln2519Pro Single submitter
- p.Gln2520Pro Single submitter
- p.Gln2637Arg Single submitter
- p.Gln2665Arg Single submitter
- p.Gln2696His Single submitter
- p.Gln2731Ter Single submitter
- p.Gln2735fs Single submitter EP400-related disorder
- p.Gln2743His Single submitter
- p.Gln2769Pro Single submitter
- p.Gln278His Single submitter
- p.Gln2810Pro Single submitter
- p.Gln2820Pro Single submitter
- p.Gln2918His Single submitter
- p.Gln3013Glu Single submitter
- p.Gln3037His Single submitter
- p.Gln374Ter Single submitter
- p.Gln377Arg Single submitter
- p.Gln738Lys Single submitter
- p.Gln8Arg Single submitter
- p.Glu1353Lys Single submitter
- p.Glu1390Lys Single submitter
- p.Glu1831Gly Single submitter
- p.Glu2161Val Single submitter
- p.Glu2170Gly Single submitter
- p.Glu2170Lys Single submitter
- p.Glu2180Ter Single submitter neurodevelopmental disorder
- p.Glu2196Gly Single submitter
- p.Glu2196Lys Single submitter
- p.Glu2200Gly Single submitter
- p.Glu24Lys Single submitter
- p.Glu426Lys Single submitter
- p.Glu432Lys Single submitter
- p.Gly1014Arg Single submitter
- p.Gly1544Arg Single submitter
- p.Gly1629Arg Single submitter
- p.Gly1662Ser Single submitter
- p.Gly168Glu Single submitter
- p.Gly1762Arg Single submitter
- p.Gly1828Val Single submitter
- p.Gly2088Arg Single submitter
- p.Gly2088Trp Single submitter
- p.Gly213Ser Single submitter
- p.Gly2702Glu Single submitter EP400-related disorder
- p.Gly2707Arg Single submitter
- p.Gly3048Arg Single submitter
- p.Gly307Arg Single submitter
- p.Gly307Ser Single submitter
- p.Gly310Glu Single submitter
- p.Gly492Arg Single submitter
- p.Gly84Arg Single submitter
- p.Gly956Ser Single submitter
- p.Gly985Arg Single submitter
- p.His1227Tyr Single submitter
- p.His1832Gln Single submitter
- p.His1832Tyr Single submitter
- p.His2256Pro Single submitter
- p.His235Gln Single submitter
- p.His2640Arg Single submitter
- p.His490Leu Single submitter
- p.His746Arg Single submitter
- p.Ile1001Leu Single submitter
- p.Ile1077Val Single submitter
- p.Ile1091Val Single submitter
- p.Ile1136Thr Single submitter
- p.Ile1182Met Single submitter
- p.Ile1360Thr Single submitter
- p.Ile1472Val Single submitter
- p.Ile2068Thr Single submitter
- p.Ile2141Val Single submitter
- p.Ile2224Val Single submitter
- p.Ile2239Leu Single submitter
- p.Ile2356Val Single submitter
- p.Ile2580Val Single submitter
- p.Ile2964Ser Single submitter
- p.Ile2964Thr Single submitter
- p.Ile425Val Single submitter
- p.Ile442Met Single submitter
- p.Ile592Ser Single submitter
- p.Ile739Val Single submitter
- p.Ile920Val Single submitter
- p.Leu1097Val Single submitter
- p.Leu1117fs Single submitter neurodevelopmental disorder
- p.Leu1202Arg Single submitter
- p.Leu2113Val Single submitter
- p.Leu2289Phe Single submitter
- p.Leu2315Val Single submitter
- p.Leu237Arg Single submitter
- p.Leu2576Pro Single submitter
- p.Leu2693Ser Single submitter
- p.Leu2705Val Single submitter
- p.Leu2898Pro Single submitter
- p.Leu2986Phe Single submitter
- p.Leu779Met Single submitter
- p.Leu780Arg Single submitter
- p.Leu91Pro Single submitter
- p.Leu999Val Single submitter
- p.Lys1297Arg Single submitter EP400-related disorder
- p.Lys2145Glu Single submitter
- p.Lys2267Asn Single submitter
- p.Lys2268Gln Single submitter
- p.Lys346Thr Single submitter
- p.Lys384Arg Single submitter
- p.Lys773Asn Single submitter
- p.Lys866Thr Single submitter
- p.Met1404Thr Single submitter
- p.Met1921Leu Single submitter
- p.Met2034Val Single submitter
- p.Met2195Val Single submitter
- p.Met2233Thr Single submitter
- p.Met2791Ile Single submitter
- p.Met897Val Single submitter
- p.Phe113Cys Single submitter
- p.Phe1444Leu Single submitter
- p.Pro1152Leu Single submitter
- p.Pro1214Leu Single submitter
- p.Pro1355Leu Single submitter
- p.Pro1417Thr Single submitter
- p.Pro141Leu Single submitter
- p.Pro1449Leu Single submitter
- p.Pro1455Leu Single submitter
- p.Pro1465Leu Single submitter
- p.Pro1479Leu Single submitter
- p.Pro1512Leu Single submitter
- p.Pro1515Arg Single submitter
- p.Pro1533Leu Single submitter
- p.Pro1539Leu Single submitter
- p.Pro155Ser Single submitter
- p.Pro1614Leu Single submitter
- p.Pro1636Leu Single submitter
- p.Pro1675Ala Single submitter
- p.Pro1763Ser Single submitter
- p.Pro1801Leu Single submitter
- p.Pro1835Leu Single submitter
- p.Pro2053Ser Single submitter
- p.Pro2061Ser Single submitter
- p.Pro2210Thr Single submitter
- p.Pro2287Thr Single submitter
- p.Pro2518Leu Single submitter
- p.Pro2524Leu Single submitter
- p.Pro2535Leu Single submitter
- p.Pro2546Ser Single submitter
- p.Pro2556Ala Single submitter
- p.Pro2644Leu Single submitter
- p.Pro2689Leu Single submitter