BOD1L1 — 446 ClinVar variants

All ClinVar germline BOD1L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 398 flagged for review →

39 Likely benign · 407 Uncertain significance

Full BOD1L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 398

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 375

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 375

Predictors split 23

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

All BOD1L1 variants

Likely benign 39

p.Ala1320= Single submitter
p.Ala2087Thr Single submitter
p.Ala2201Val Single submitter
p.Ala2527Thr Single submitter
p.Arg2315Gln Single submitter
p.Arg830His Single submitter
p.Asn1421Ser Single submitter
p.Asn199Ser Single submitter
p.Asp2976Glu Single submitter
p.Gln1775Pro Single submitter
p.Gln2915Pro Single submitter
p.Glu584Asp Single submitter
p.Gly1099Ser Single submitter
p.Gly2233Ser Single submitter
p.Ile1301Val Single submitter
p.Ile1702Leu Single submitter
p.Ile1818Leu Single submitter
p.Ile2255Val Single submitter
p.Ile2749Thr Single submitter
p.Leu2099Val Single submitter
p.Leu717Pro Single submitter
p.Lys351Arg Single submitter
p.Met1207Val Single submitter
p.Pro1326Ser Single submitter
p.Ser1313Gly Single submitter
p.Ser978Ala Single submitter
p.Ser983Gly Single submitter
p.Thr1008Ser Single submitter
p.Thr1937Ala Single submitter
p.Thr2531= Single submitter
p.Thr273Ala Single submitter
p.Thr2848Ala Single submitter
p.Thr2859Ser Single submitter
p.Thr937Ala Single submitter
p.Tyr2590Cys Single submitter
p.Val1048Ile Single submitter
p.Val1289Ala Single submitter
p.Val2261Gly Single submitter
p.Val583Ile Single submitter

Uncertain significance 407

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

p.Ser2559Phe Multiple submitters ⚠
p.Ala1212Thr Single submitter ⚠
p.Ala1356Val Single submitter ⚠
p.Ala1358Val Single submitter ⚠
p.Ala1372Pro Single submitter ⚠
p.Ala1410Thr Single submitter ⚠
p.Ala1452Asp Single submitter ⚠
p.Ala1506Val Single submitter ⚠
p.Ala1518Val Single submitter ⚠
p.Ala1601Thr Single submitter ⚠
p.Ala1621Gly Single submitter ⚠
p.Ala1732Thr Single submitter ⚠
p.Ala173Pro Single submitter ⚠
p.Ala173Val Single submitter ⚠
p.Ala198Thr Single submitter ⚠
p.Ala2098Pro Single submitter ⚠
p.Ala2179Val Single submitter ⚠
p.Ala2342Ser Single submitter ⚠
p.Ala2365Pro Single submitter ⚠
p.Ala2401Ser Single submitter ⚠
p.Ala2428Val Single submitter ⚠
p.Ala2487Thr Single submitter ⚠
p.Ala2499Thr Single submitter ⚠
p.Ala2588Ser Single submitter ⚠
p.Ala2798Val Single submitter ⚠
p.Ala469Thr Single submitter ⚠
p.Ala46Val Single submitter ⚠
p.Ala48Thr Single submitter ⚠
p.Ala523Pro Single submitter ⚠
p.Ala631Pro Single submitter ⚠
p.Ala631Ser Single submitter ⚠
p.Arg1069Thr Single submitter ⚠
p.Arg1141Cys Single submitter ⚠
p.Arg1141His Single submitter ⚠
p.Arg1185Cys Single submitter ⚠
p.Arg1185His Single submitter ⚠
p.Arg1333Thr Single submitter ⚠
p.Arg1476Thr Single submitter ⚠
p.Arg148Ile Single submitter
p.Arg1546Lys Single submitter ⚠
p.Arg1626Ser Single submitter ⚠
p.Arg1735Gly Single submitter ⚠
p.Arg1750Trp Single submitter ⚠
p.Arg1753Cys Single submitter ⚠
p.Arg1753His Single submitter ⚠
p.Arg2447Ile Single submitter ⚠
p.Arg2447Ser Single submitter ⚠
p.Arg251Lys Single submitter ⚠
p.Arg2524Cys Single submitter ⚠
p.Arg2766Ser Single submitter ⚠
p.Arg2771Ile Single submitter ⚠
p.Arg2945His Single submitter ⚠
p.Arg2946Gln Single submitter ⚠
p.Arg2946Leu Single submitter ⚠
p.Arg2953Cys Single submitter ⚠
p.Arg2953His Single submitter ⚠
p.Arg2970Leu Single submitter ⚠
p.Arg3008Thr Single submitter ⚠
p.Arg3024Cys Single submitter ⚠
p.Arg3024His Single submitter ⚠
p.Arg3034Gln Single submitter ⚠
p.Arg3040Lys Single submitter ⚠
p.Arg467Gln Single submitter ⚠
p.Arg508Ser Single submitter ⚠
p.Arg632Gln Single submitter ⚠
p.Arg678Lys Single submitter ⚠
p.Arg682Ser Single submitter ⚠
p.Arg821Cys Single submitter ⚠
p.Arg830Cys Single submitter ⚠
p.Arg898Gln Single submitter ⚠
p.Arg90His Single submitter
p.Arg956Cys Single submitter ⚠
p.Arg956His Single submitter ⚠
p.Arg956Leu Single submitter ⚠
p.Arg991Gly Single submitter ⚠
p.Asn111Lys Single submitter
p.Asn2066Thr Single submitter ⚠
p.Asn2467Lys Single submitter ⚠
p.Asn2607Ile Single submitter ⚠
p.Asn2787Lys Single submitter ⚠
p.Asn2787Ser Single submitter ⚠
p.Asn292Thr Single submitter ⚠
p.Asn59His Single submitter ⚠
p.Asn795Lys Single submitter ⚠
p.Asn795Ser Single submitter ⚠
p.Asp1165Ala Single submitter ⚠
p.Asp1441Glu Single submitter ⚠
p.Asp175Asn Single submitter ⚠
p.Asp1764Gly Single submitter ⚠
p.Asp180Asn Single submitter ⚠
p.Asp1831Gly Single submitter ⚠
p.Asp1869Glu Single submitter ⚠
p.Asp1945Gly Single submitter ⚠
p.Asp1945His Single submitter ⚠
p.Asp2080Asn Single submitter ⚠
p.Asp2189Asn Single submitter ⚠
p.Asp2278Asn Single submitter ⚠
p.Asp2326His Single submitter ⚠
p.Asp248Val Single submitter ⚠
p.Asp2817Val Single submitter ⚠
p.Asp2840Gly Single submitter ⚠
p.Asp2856Asn Single submitter ⚠
p.Asp2892Asn Single submitter ⚠
p.Asp327Glu Single submitter ⚠
p.Asp347Gly Single submitter ⚠
p.Asp422Gly Single submitter ⚠
p.Asp853Val Single submitter ⚠
p.Asp874Glu Single submitter ⚠
p.Cys1170Tyr Single submitter ⚠
p.Cys1806Ser Single submitter ⚠
p.Cys1886Tyr Single submitter ⚠
p.Cys2264Ser Single submitter ⚠
p.Cys2599Tyr Single submitter ⚠
p.Cys2649Tyr Single submitter ⚠
p.Gln1328Arg Single submitter ⚠
p.Gln2311Arg Single submitter ⚠
p.Gln2574Arg Single submitter ⚠
p.Gln2601Arg Single submitter ⚠
p.Gln2854Arg Single submitter ⚠
p.Gln363Leu Single submitter ⚠
p.Gln448_Asn449insTer Single submitter
p.Gln454Glu Single submitter ⚠
p.Gln6Arg Single submitter ⚠
p.Gln777His Single submitter ⚠
p.Gln859Glu Single submitter ⚠
p.Glu1072Lys Single submitter ⚠
p.Glu1118Gln Single submitter ⚠
p.Glu1129Lys Single submitter ⚠
p.Glu1152Gly Single submitter ⚠
p.Glu1345Gly Single submitter ⚠
p.Glu1345Lys Single submitter ⚠
p.Glu1419Asp Single submitter ⚠
p.Glu1431Asp Single submitter ⚠
p.Glu1733Lys Single submitter ⚠
p.Glu1814Lys Single submitter ⚠
p.Glu1823Val Single submitter ⚠
p.Glu1995Lys Single submitter ⚠
p.Glu2042Gly Single submitter ⚠
p.Glu2114Gly Single submitter ⚠
p.Glu2140Gly Single submitter ⚠
p.Glu2153Lys Single submitter ⚠
p.Glu2202Val Single submitter ⚠
p.Glu2349Lys Single submitter ⚠
p.Glu2405Lys Single submitter ⚠
p.Glu2620Lys Single submitter ⚠
p.Glu2634Ala Single submitter ⚠
p.Glu2765Gly Single submitter ⚠
p.Glu278Lys Single submitter ⚠
p.Glu2864Gly Single submitter ⚠
p.Glu288Gly Single submitter ⚠
p.Glu2922Ala Single submitter ⚠
p.Glu426Gly Single submitter ⚠
p.Glu524Lys Single submitter ⚠
p.Glu567Gly Single submitter ⚠
p.Glu585Ala Single submitter ⚠
p.Glu670Asp Single submitter ⚠
p.Glu890Val Single submitter ⚠
p.Glu925Asp Single submitter ⚠
p.Glu971Gln Single submitter ⚠
p.Gly1184Arg Single submitter ⚠
p.Gly1188Arg Single submitter ⚠
p.Gly1227Glu Single submitter ⚠
p.Gly1312Asp Single submitter ⚠
p.Gly1346Arg Single submitter ⚠
p.Gly1347Asp Single submitter ⚠
p.Gly1500Glu Single submitter ⚠
p.Gly1536Arg Single submitter ⚠
p.Gly1616Arg Single submitter ⚠
p.Gly1676Glu Single submitter ⚠
p.Gly1725Asp Single submitter ⚠
p.Gly1777Glu Single submitter ⚠
p.Gly1904Ala Single submitter ⚠
p.Gly1936Val Single submitter ⚠
p.Gly1964Ala Single submitter ⚠
p.Gly2002Ala Single submitter ⚠
p.Gly2006Val Single submitter ⚠
p.Gly2064Asp Single submitter ⚠
p.Gly2233Arg Single submitter ⚠
p.Gly2254Asp Single submitter ⚠
p.Gly2410Val Single submitter ⚠
p.Gly2448Val Single submitter ⚠
p.Gly2482Ala Single submitter ⚠
p.Gly2532Ser Single submitter ⚠
p.Gly2695Arg Single submitter ⚠
p.Gly2936Asp Single submitter ⚠
p.Gly35Val Single submitter ⚠
p.Gly42Ser Single submitter ⚠
p.Gly49Arg Single submitter ⚠
p.Gly765Cys Single submitter ⚠
p.Gly969Ala Single submitter ⚠
p.His107Arg Single submitter ⚠
p.His1365Gln Single submitter ⚠
p.His1370Pro Single submitter ⚠
p.His1914Tyr Single submitter ⚠
p.His2371Arg Single submitter ⚠
p.His2549Arg Single submitter ⚠
p.His2767Pro Single submitter ⚠
p.His2776Leu Single submitter ⚠
p.His472Arg Single submitter ⚠
p.His472Gln Single submitter ⚠
p.His472Pro Single submitter ⚠
p.His712Asn Single submitter ⚠
p.His751Arg Single submitter ⚠
p.His990Arg Single submitter ⚠
p.His990Tyr Single submitter ⚠
p.Ile1149Val Single submitter ⚠
p.Ile1209Val Single submitter ⚠
p.Ile1366Phe Single submitter ⚠
p.Ile143Asn Single submitter
p.Ile1469Val Single submitter ⚠
p.Ile1557Thr Single submitter ⚠
p.Ile1697Met Single submitter ⚠
p.Ile1741Val Single submitter ⚠
p.Ile1818Val Single submitter ⚠
p.Ile184Val Single submitter ⚠
p.Ile1999Val Single submitter ⚠
p.Ile2156Leu Single submitter ⚠
p.Ile2162Val Single submitter ⚠
p.Ile2219Val Single submitter ⚠
p.Ile2329Val Single submitter ⚠
p.Ile2340Val Single submitter ⚠
p.Ile2344Phe Single submitter ⚠
p.Ile2457Thr Single submitter ⚠
p.Ile2534Val Single submitter ⚠
p.Ile2728Thr Single submitter ⚠
p.Ile2795Val Single submitter ⚠
p.Ile850Phe Single submitter ⚠
p.Leu1061Phe Single submitter ⚠
p.Leu1070Phe Single submitter ⚠
p.Leu1272Val Single submitter ⚠
p.Leu1386Pro Single submitter ⚠
p.Leu1457Pro Single submitter ⚠
p.Leu1495Val Single submitter ⚠
p.Leu1897Met Single submitter ⚠
p.Leu2099Arg Single submitter ⚠
p.Leu2352Gln Single submitter ⚠
p.Leu2378Ile Single submitter ⚠
p.Leu2454Val Single submitter ⚠
p.Leu2666Val Single submitter ⚠
p.Leu3018Phe Single submitter ⚠
p.Leu541Phe Single submitter ⚠
p.Leu802Phe Single submitter ⚠
p.Lys1043Arg Single submitter ⚠
p.Lys1065Arg Single submitter ⚠
p.Lys1136Asn Single submitter ⚠
p.Lys1339Glu Single submitter ⚠
p.Lys1344Gln Single submitter ⚠
p.Lys1450Asn Single submitter ⚠
p.Lys1524Thr Single submitter ⚠
p.Lys165Gln Single submitter ⚠
p.Lys261Gln Single submitter ⚠
p.Lys2839Glu Single submitter ⚠
p.Lys2839Thr Single submitter ⚠
p.Lys2921Glu Single submitter ⚠
p.Lys2981Asn Single submitter ⚠
p.Lys350Glu Single submitter ⚠
p.Lys351Asn Single submitter ⚠
p.Lys367Glu Single submitter ⚠
p.Lys552Glu Single submitter ⚠
p.Lys649Glu Single submitter ⚠
p.Lys655Gln Single submitter ⚠
p.Lys718Arg Single submitter ⚠
p.Lys752Glu Single submitter ⚠
p.Lys774Arg Single submitter ⚠
p.Lys786Arg Single submitter ⚠
p.Lys837Glu Single submitter ⚠
p.Lys986Arg Single submitter ⚠
p.Met1120Arg Single submitter ⚠
p.Met1717Ile Single submitter ⚠
p.Met1717Leu Single submitter ⚠
p.Met1717Val Single submitter ⚠
p.Met1924Ile Single submitter ⚠
p.Met1934Ile Single submitter ⚠
p.Met2047Ile Single submitter ⚠
p.Met2105Val Single submitter ⚠
p.Met2119Thr Single submitter ⚠
p.Met2194Ile Single submitter ⚠
p.Met2247Thr Single submitter ⚠
p.Met2247Val Single submitter ⚠
p.Met2292Val Single submitter ⚠
p.Met2338Leu Single submitter ⚠
p.Met2375Val Single submitter ⚠
p.Met2639Thr Single submitter ⚠
p.Met2672Ile Single submitter ⚠
p.Met2836Val Single submitter ⚠
p.Met433Leu Single submitter ⚠
p.Met56Thr Single submitter ⚠
p.Met664Thr Single submitter ⚠
p.Met883Arg Single submitter ⚠
p.Phe1304Leu Single submitter ⚠
p.Phe147Val Single submitter
p.Phe2115Leu Single submitter ⚠
p.Pro1218Leu Single submitter ⚠
p.Pro1319Ser Single submitter ⚠
p.Pro18Leu Single submitter ⚠
p.Pro18Ser Single submitter ⚠
p.Pro2026Arg Single submitter ⚠
p.Pro2170Leu Single submitter ⚠
p.Pro2273Arg Single submitter ⚠
p.Pro2279Arg Single submitter ⚠