ACACB — 502 ClinVar variants
All ClinVar germline ACACB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 403 flagged for review →
7 Conflicting · 28 Benign · 3 Benign/Likely benign · 75 Likely benign · 389 Uncertain significance
Full ACACB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 403
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 218
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 218
- ACACB p.Ala1050Glu Uncertain significance Single submitter
- ACACB p.Ala1175Thr Uncertain significance Single submitter
- ACACB p.Ala1221Asp Uncertain significance Single submitter
- ACACB p.Ala1284Ser Uncertain significance Single submitter
- ACACB p.Ala1303Thr Uncertain significance Single submitter
- ACACB p.Ala137Gly Uncertain significance Single submitter
- ACACB p.Ala1402Thr Uncertain significance Single submitter
- ACACB p.Ala1430Thr Uncertain significance Single submitter
- ACACB p.Ala144Val Uncertain significance Single submitter
- ACACB p.Ala1512Thr Uncertain significance Single submitter
- ACACB p.Ala1644Thr Uncertain significance Single submitter
- ACACB p.Ala198Pro Uncertain significance Single submitter
- ACACB p.Ala2050Val Uncertain significance Single submitter
- ACACB p.Ala210Thr Uncertain significance Single submitter
- ACACB p.Ala2254Pro Uncertain significance Single submitter
- ACACB p.Ala2322Thr Uncertain significance Single submitter
- ACACB p.Ala2443Val Uncertain significance Single submitter
- ACACB p.Ala2456Thr Uncertain significance Single submitter
- ACACB p.Ala346Glu Uncertain significance Single submitter
- ACACB p.Ala644Thr Uncertain significance Single submitter
- ACACB p.Ala785Pro Uncertain significance Single submitter
- ACACB p.Arg1097Gln Uncertain significance Single submitter
- ACACB p.Arg1123His Uncertain significance Single submitter
- ACACB p.Arg1239Trp Uncertain significance Single submitter
- ACACB p.Arg1443Gln Uncertain significance Single submitter
- ACACB p.Arg1487His Uncertain significance Single submitter
- ACACB p.Arg1490His Uncertain significance Single submitter
- ACACB p.Arg1506His Uncertain significance Single submitter
- ACACB p.Arg1617Cys Uncertain significance Single submitter
- ACACB p.Arg1626His Uncertain significance Single submitter
- ACACB p.Arg1648Leu Uncertain significance Single submitter
- ACACB p.Arg1798His Uncertain significance Single submitter
- ACACB p.Arg1948Gln Uncertain significance Single submitter
- ACACB p.Arg213His Uncertain significance Single submitter
- ACACB p.Arg2146Gln Uncertain significance Single submitter
- ACACB p.Arg2200Trp Uncertain significance Single submitter
- ACACB p.Arg2323Cys Uncertain significance Single submitter
- ACACB p.Arg2396His Uncertain significance Single submitter
- ACACB p.Arg2442Gln Uncertain significance Single submitter
- ACACB p.Arg2442Trp Uncertain significance Single submitter
- ACACB p.Arg280Cys Uncertain significance Single submitter
- ACACB p.Arg526Trp Uncertain significance Single submitter
- ACACB p.Arg620Gln Uncertain significance Single submitter
- ACACB p.Arg710Gln Uncertain significance Single submitter
- ACACB p.Arg960Lys Uncertain significance Single submitter
- ACACB p.Asn1071Ile Uncertain significance Single submitter
- ACACB p.Asn1343Asp Uncertain significance Single submitter
- ACACB p.Asn1424Ile Uncertain significance Single submitter
- ACACB p.Asn1517Ser Uncertain significance Single submitter
- ACACB p.Asn1581Ser Uncertain significance Single submitter
- ACACB p.Asn164Ser Uncertain significance Single submitter
- ACACB p.Asn325His Uncertain significance Single submitter
- ACACB p.Asn367Ser Uncertain significance Single submitter
- ACACB p.Asn883Ser Uncertain significance Single submitter
- ACACB p.Asn935Lys Uncertain significance Single submitter
- ACACB p.Asp108Asn Uncertain significance Single submitter
- ACACB p.Asp1195Asn Uncertain significance Single submitter
- ACACB p.Asp1200Tyr Uncertain significance Single submitter
- ACACB p.Asp1356Asn Uncertain significance Single submitter
- ACACB p.Asp1751His Uncertain significance Single submitter
- ACACB p.Asp1751Val Uncertain significance Single submitter
- ACACB p.Asp2031Asn Uncertain significance Single submitter
- ACACB p.Asp2315Asn Uncertain significance Single submitter
- ACACB p.Asp2409Glu Uncertain significance Single submitter
- ACACB p.Asp2428Glu Uncertain significance Single submitter
- ACACB p.Asp752Asn Uncertain significance Single submitter
- ACACB p.Cys275Tyr Uncertain significance Single submitter
- ACACB p.Cys365Phe Uncertain significance Single submitter
- ACACB p.Cys790Gly Uncertain significance Single submitter
- ACACB p.Cys9Phe Uncertain significance Single submitter
- ACACB p.Gln1562Lys Uncertain significance Single submitter
- ACACB p.Gln1755Arg Uncertain significance Single submitter
- ACACB p.Gln2356Arg Uncertain significance Single submitter
- ACACB p.Gln2390His Uncertain significance Single submitter
- ACACB p.Gln396Arg Uncertain significance Single submitter
- ACACB p.Gln97Lys Uncertain significance Single submitter
- ACACB p.Glu1261Lys Uncertain significance Single submitter
- ACACB p.Glu126Asp Uncertain significance Single submitter
- ACACB p.Glu1409Lys Uncertain significance Single submitter
- ACACB p.Glu1418Lys Uncertain significance Single submitter
- ACACB p.Glu1482Lys Uncertain significance Single submitter
- ACACB p.Glu1531Asp Uncertain significance Single submitter
- ACACB p.Glu1559Asp Uncertain significance Single submitter
- ACACB p.Glu1631Lys Uncertain significance Single submitter
- ACACB p.Glu2223Gln Uncertain significance Single submitter
- ACACB p.Glu46Lys Uncertain significance Single submitter
- ACACB p.Glu56Gln Uncertain significance Single submitter
- ACACB p.Glu926Lys Uncertain significance Single submitter
- ACACB p.Glu990Lys Uncertain significance Single submitter
- ACACB p.Gly1300Ser Uncertain significance Single submitter
- ACACB p.Gly1358Ser Uncertain significance Single submitter
- ACACB p.Gly1457Arg Uncertain significance Single submitter
- ACACB p.Gly145Val Uncertain significance Single submitter
- ACACB p.Gly1525Ser Uncertain significance Single submitter
- ACACB p.Gly2064Arg Uncertain significance Single submitter
- ACACB p.Gly2181Ser Uncertain significance Single submitter
- ACACB p.Gly2348Arg Uncertain significance Single submitter
- ACACB p.Gly269Arg Uncertain significance Single submitter
- ACACB p.Gly352Asp Uncertain significance Single submitter
- ACACB p.Gly667Arg Uncertain significance Single submitter
- ACACB p.Gly754Arg Uncertain significance Single submitter
- ACACB p.Gly774Arg Uncertain significance Single submitter
- ACACB p.Gly778Arg Uncertain significance Single submitter
- ACACB p.Gly820Arg Uncertain significance Single submitter
- ACACB p.Gly989Arg Uncertain significance Single submitter
- ACACB p.His1283Arg Uncertain significance Single submitter
- ACACB p.His1349Arg Uncertain significance Single submitter
- ACACB p.His589Arg Uncertain significance Single submitter
- ACACB p.His970Gln Uncertain significance Single submitter
- ACACB p.Ile1072Val Uncertain significance Single submitter
- ACACB p.Ile1122Val Uncertain significance Single submitter
- ACACB p.Ile1154Met Uncertain significance Single submitter
- ACACB p.Ile1246Met Uncertain significance Single submitter
- ACACB p.Ile1251Val Uncertain significance Single submitter
- ACACB p.Ile1273Val Uncertain significance Single submitter
- ACACB p.Ile1420Leu Uncertain significance Single submitter
- ACACB p.Ile1420Thr Uncertain significance Single submitter
- ACACB p.Ile1465Val Uncertain significance Single submitter
- ACACB p.Ile1488Val Uncertain significance Single submitter
- ACACB p.Ile1661Val Uncertain significance Single submitter
- ACACB p.Ile1799Val Uncertain significance Single submitter
- ACACB p.Ile2211Phe Uncertain significance Single submitter
- ACACB p.Ile2237Thr Uncertain significance Single submitter
- ACACB p.Ile2289Val Uncertain significance Single submitter
- ACACB p.Ile2313Lys Uncertain significance Single submitter
- ACACB p.Ile2431Thr Uncertain significance Single submitter
- ACACB p.Ile825Val Uncertain significance Single submitter
- ACACB p.Leu1003His Uncertain significance Single submitter
- ACACB p.Leu1277Arg Uncertain significance Single submitter
- ACACB p.Leu1415Pro Uncertain significance Single submitter
- ACACB p.Leu2049Arg Uncertain significance Single submitter
- ACACB p.Leu205Val Uncertain significance Single submitter
- ACACB p.Leu2229Pro Uncertain significance Single submitter
- ACACB p.Leu224Val Uncertain significance Single submitter
- ACACB p.Leu2279Arg Uncertain significance Single submitter
- ACACB p.Leu67Val Uncertain significance Single submitter
- ACACB p.Lys1180Gln Uncertain significance Single submitter
- ACACB p.Lys158Gln Uncertain significance Single submitter
- ACACB p.Lys83Arg Uncertain significance Single submitter
- ACACB p.Met1029Ile Uncertain significance Single submitter
- ACACB p.Met1290Val Uncertain significance Single submitter
- ACACB p.Met1355Val Uncertain significance Single submitter
- ACACB p.Met1366Val Uncertain significance Single submitter
- ACACB p.Met1573Thr Uncertain significance Single submitter
- ACACB p.Met162Arg Uncertain significance Single submitter
- ACACB p.Met1837Val Uncertain significance Single submitter
- ACACB p.Met2013Val Uncertain significance Single submitter
- ACACB p.Met2259Ile Uncertain significance Single submitter
- ACACB p.Met2259Thr Uncertain significance Single submitter
- ACACB p.Met298Thr Uncertain significance Single submitter
Predictors split 181
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 181
- ACACB p.Arg1786Gln Likely benign Multiple submitters
- ACACB p.Asp1481Val Benign/Likely benign Multiple submitters
- ACACB p.Val958Met Uncertain significance Multiple submitters
- ACACB p.Ala1544Thr Uncertain significance Single submitter
- ACACB p.Ala1848Ser Uncertain significance Single submitter
- ACACB p.Ala2119Val Uncertain significance Single submitter
- ACACB p.Ala2298Ser Uncertain significance Single submitter
- ACACB p.Ala2298Thr Uncertain significance Single submitter
- ACACB p.Ala2346Gly Uncertain significance Single submitter
- ACACB p.Ala387Thr Uncertain significance Single submitter
- ACACB p.Ala470Gly Uncertain significance Single submitter
- ACACB p.Ala608Thr Uncertain significance Single submitter
- ACACB p.Ala806Glu Uncertain significance Single submitter
- ACACB p.Ala829Ser Uncertain significance Single submitter
- ACACB p.Arg1033Trp Uncertain significance Single submitter
- ACACB p.Arg1062Cys Uncertain significance Single submitter
- ACACB p.Arg1312Trp Uncertain significance Single submitter
- ACACB p.Arg1334Trp Uncertain significance Single submitter
- ACACB p.Arg1365Cys Uncertain significance Single submitter
- ACACB p.Arg1459Gln Uncertain significance Single submitter
- ACACB p.Arg1487Cys Uncertain significance Single submitter
- ACACB p.Arg1617His Uncertain significance Single submitter
- ACACB p.Arg1637Cys Uncertain significance Single submitter
- ACACB p.Arg1648His Uncertain significance Single submitter
- ACACB p.Arg185His Conflicting Single submitter
- ACACB p.Arg1871Gly Uncertain significance Single submitter
- ACACB p.Arg189Gln Benign Single submitter
- ACACB p.Arg1934Gln Uncertain significance Single submitter
- ACACB p.Arg193Trp Uncertain significance Single submitter
- ACACB p.Arg213Cys Uncertain significance Single submitter
- ACACB p.Arg2278Trp Uncertain significance Single submitter
- ACACB p.Arg2282Cys Uncertain significance Single submitter
- ACACB p.Arg2282His Uncertain significance Single submitter
- ACACB p.Arg2306Gln Benign Single submitter
- ACACB p.Arg2360His Uncertain significance Single submitter
- ACACB p.Arg2361Cys Conflicting Single submitter
- ACACB p.Arg253Leu Uncertain significance Single submitter
- ACACB p.Arg499His Uncertain significance Single submitter
- ACACB p.Arg584Cys Uncertain significance Single submitter
- ACACB p.Arg615Trp Uncertain significance Single submitter
- ACACB p.Arg645Gln Uncertain significance Single submitter
- ACACB p.Arg675Gln Uncertain significance Single submitter
- ACACB p.Arg727Gln Uncertain significance Single submitter
- ACACB p.Arg851Gly Uncertain significance Single submitter
- ACACB p.Arg851Trp Uncertain significance Single submitter
- ACACB p.Arg878Gln Uncertain significance Single submitter
- ACACB p.Arg88Trp Uncertain significance Single submitter
- ACACB p.Arg89Ile Uncertain significance Single submitter
- ACACB p.Arg941Trp Uncertain significance Single submitter
- ACACB p.Arg947Cys Uncertain significance Single submitter
- ACACB p.Arg960Ser Uncertain significance Single submitter
- ACACB p.Asn1595Ser Uncertain significance Single submitter
- ACACB p.Asn1693Thr Uncertain significance Single submitter
- ACACB p.Asn1989Ser Uncertain significance Single submitter
- ACACB p.Asn2145Ile Uncertain significance Single submitter
- ACACB p.Asn2145Ser Uncertain significance Single submitter
- ACACB p.Asn325Ser Uncertain significance Single submitter
- ACACB p.Asp1486Glu Uncertain significance Single submitter
- ACACB p.Asp178His Uncertain significance Single submitter
- ACACB p.Asp1901Asn Uncertain significance Single submitter
- ACACB p.Asp241Glu Uncertain significance Single submitter
- ACACB p.Asp597Asn Uncertain significance Single submitter
- ACACB p.Asp784Gly Uncertain significance Single submitter
- ACACB p.Asp848Ala Uncertain significance Single submitter
- ACACB p.Asp964Asn Uncertain significance Single submitter
- ACACB p.Asp965Glu Uncertain significance Single submitter
- ACACB p.Asp965Val Uncertain significance Single submitter
- ACACB p.Cys1011Trp Uncertain significance Single submitter
- ACACB p.Cys886Ser Uncertain significance Single submitter
- ACACB p.Gln831Arg Uncertain significance Single submitter
- ACACB p.Glu1201Lys Uncertain significance Single submitter
- ACACB p.Glu1208Lys Uncertain significance Single submitter
- ACACB p.Glu1376Lys Uncertain significance Single submitter
- ACACB p.Glu1418Gly Uncertain significance Single submitter
- ACACB p.Glu1820Lys Uncertain significance Single submitter
- ACACB p.Glu1884Lys Uncertain significance Single submitter
- ACACB p.Glu1888Asp Uncertain significance Single submitter
- ACACB p.Glu1953Gly Uncertain significance Single submitter
- ACACB p.Glu2260Lys Uncertain significance Single submitter
- ACACB p.Glu872Lys Uncertain significance Single submitter
- ACACB p.Gly1124Asp Uncertain significance Single submitter
- ACACB p.Gly119Arg Uncertain significance Single submitter
- ACACB p.Gly1642Asp Likely benign Single submitter
- ACACB p.Gly1673Val Uncertain significance Single submitter
- ACACB p.Gly1681Ser Uncertain significance Single submitter
- ACACB p.Gly1689Glu Uncertain significance Single submitter
- ACACB p.Gly1910Cys Uncertain significance Single submitter
- ACACB p.Gly191Asp Uncertain significance Single submitter
- ACACB p.Gly2069Ser Uncertain significance Single submitter
- ACACB p.Gly2162Ser Uncertain significance Single submitter
- ACACB p.Gly2227Ser Uncertain significance Single submitter
- ACACB p.Gly255Ala Uncertain significance Single submitter
- ACACB p.Gly419Glu Uncertain significance Single submitter
- ACACB p.Gly440Ala Uncertain significance Single submitter
- ACACB p.Gly821Val Uncertain significance Single submitter
- ACACB p.Gly882Ser Uncertain significance Single submitter
- ACACB p.His1091Arg Uncertain significance Single submitter
- ACACB p.His614Gln Uncertain significance Single submitter
- ACACB p.Ile1465Thr Uncertain significance Single submitter
- ACACB p.Ile1601Thr Uncertain significance Single submitter
- ACACB p.Ile1675Asn Uncertain significance Single submitter
- ACACB p.Ile1692Thr Uncertain significance Single submitter
- ACACB p.Ile1742Asn Uncertain significance Single submitter
- ACACB p.Ile1791Val Uncertain significance Single submitter
- ACACB p.Ile1795Val Uncertain significance Single submitter
- ACACB p.Ile2289Met Uncertain significance Single submitter
- ACACB p.Ile338Val Uncertain significance Single submitter
- ACACB p.Ile845Ser Uncertain significance Single submitter
- ACACB p.Leu1206Val Uncertain significance Single submitter
- ACACB p.Leu2267Phe Uncertain significance Single submitter
- ACACB p.Leu897Val Uncertain significance Single submitter
- ACACB p.Lys1219Glu Uncertain significance Single submitter
- ACACB p.Lys1857Glu Uncertain significance Single submitter
- ACACB p.Lys2222Thr Uncertain significance Single submitter
- ACACB p.Lys2407Asn Uncertain significance Single submitter
- ACACB p.Lys359Thr Uncertain significance Single submitter
- ACACB p.Lys556Asn Uncertain significance Single submitter
- ACACB p.Lys946Arg Uncertain significance Single submitter
- ACACB p.Met1007Ile Uncertain significance Single submitter
- ACACB p.Met2358Val Uncertain significance Single submitter
- ACACB p.Met452Val Uncertain significance Single submitter
- ACACB p.Met594Ile Uncertain significance Single submitter
- ACACB p.Met840Lys Uncertain significance Single submitter
- ACACB p.Met930Val Uncertain significance Single submitter
- ACACB p.Phe1172Val Uncertain significance Single submitter
- ACACB p.Phe1845Tyr Uncertain significance Single submitter
- ACACB p.Phe2130Leu Uncertain significance Single submitter
- ACACB p.Phe242Val Uncertain significance Single submitter
- ACACB p.Pro1440Leu Uncertain significance Single submitter
- ACACB p.Pro1686Arg Benign Single submitter
- ACACB p.Pro2213Leu Uncertain significance Single submitter
- ACACB p.Pro2253Arg Uncertain significance Single submitter
- ACACB p.Pro638Ser Uncertain significance Single submitter
- ACACB p.Ser106Cys Uncertain significance Single submitter
- ACACB p.Ser1448Tyr Uncertain significance Single submitter
- ACACB p.Ser1584Arg Uncertain significance Single submitter
- ACACB p.Ser1584Ile Uncertain significance Single submitter
- ACACB p.Ser1655Leu Uncertain significance Single submitter
- ACACB p.Ser1873Arg Uncertain significance Single submitter
- ACACB p.Ser1889Cys Uncertain significance Single submitter
- ACACB p.Ser2011Phe Uncertain significance Single submitter
- ACACB p.Ser2397Thr Uncertain significance Single submitter
- ACACB p.Ser2397Tyr Uncertain significance Single submitter
- ACACB p.Ser35Asn Uncertain significance Single submitter
- ACACB p.Ser876Gly Uncertain significance Single submitter
- ACACB p.Ser920Asn Uncertain significance Single submitter
- ACACB p.Thr1004Ile Uncertain significance Single submitter
- ACACB p.Thr1476Ser Uncertain significance Single submitter
- ACACB p.Thr1536Met Uncertain significance Single submitter
- ACACB p.Thr1652Ile Uncertain significance Single submitter
All ACACB variants
Conflicting classifications of pathogenicity 7
- p.Arg185His Single submitter ⚠
- p.Arg2361Cys Single submitter ⚠
- p.Arg939Ser Single submitter ACACB-related disorder ⚠
- p.Asn102Lys Single submitter ⚠
- p.Gln45Arg Single submitter ⚠
- p.Ile2030Val Single submitter ⚠
- p.Ser1199= Single submitter ACACB-related disorder
Benign 28
- c.6942+9C>T Multiple submitters
- c.6943-8G>A Multiple submitters
- p.Gln1257Glu Multiple submitters
- p.Leu2406= Multiple submitters
- p.Leu7= Multiple submitters
- p.Phe1445= Multiple submitters
- p.Pro343= Multiple submitters
- p.Thr1511= Multiple submitters
- p.Thr2137= Multiple submitters
- p.Thr885= Multiple submitters
- p.Val531= Multiple submitters
- c.1438-5G>A Single submitter
- c.2144+10TCCT[10] Single submitter
- c.2144+10TCCT[11] Single submitter
- c.2144+10TCCT[12] Single submitter
- c.2144+10TCCT[13] Single submitter
- c.2144+10TCCT[16] Single submitter
- c.4446+8C>T Single submitter
- c.5571+4C>T Single submitter
- p.Arg189Gln Single submitter ⚠
- p.Arg2250Met Single submitter
- p.Arg2306Gln Single submitter ⚠
- p.Asp1787= Single submitter
- p.Phe2297= Single submitter
- p.Phe2363= Single submitter
- p.Pro1686Arg Single submitter ⚠
- c.3060+10C>T No assertion criteria ACACB-related disorder
- p.Val1996Met No assertion criteria ACACB-related disorder ⚠
Benign/Likely benign 3
- c.7113+7C>T Multiple submitters
- p.Asp1481Val Multiple submitters ⚠
- p.Thr1960= Multiple submitters
Likely benign 75
- p.Ala650= Multiple submitters
- p.Arg1786Gln Multiple submitters ⚠
- p.Gly2305Ser Multiple submitters
- p.Thr984= Multiple submitters
- p.Tyr1282Cys Multiple submitters
- c.2144+10TCCT[17] Single submitter
- c.2144+10TCCT[18] Single submitter
- c.4140-8A>G Single submitter
- c.4819-4G>A Single submitter
- c.653+8177G>T Single submitter HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
- p.Arg87Gln Single submitter
- p.Asn679= Single submitter
- p.Asp1998= Single submitter
- p.Asp430Asn Single submitter
- p.Glu2420= Single submitter
- p.Gly1642Asp Single submitter ⚠
- p.Gly2417= Single submitter
- p.His850= Single submitter
- p.Ile1791= Single submitter
- p.Leu1945= Single submitter
- p.Phe1389= Single submitter
- p.Phe2065= Single submitter
- p.Pro2265Ser Single submitter
- p.Pro2395Leu Single submitter
- p.Pro43Leu Single submitter
- p.Pro58Leu Single submitter
- p.Ser677Asn Single submitter
- p.Thr2321= Single submitter
- p.Tyr1236= Single submitter
- p.Tyr570Cys Single submitter ⚠
- p.Val1006Ile Single submitter
- p.Val214Ile Single submitter
- p.Val2446Ile Single submitter
- p.Val2Ile Single submitter
- p.Val531Ile Single submitter
- p.Val999Ile Single submitter ⚠
- c.1117+3A>G No assertion criteria ACACB-related disorder
- c.1819-7A>G No assertion criteria ACACB-related disorder
- c.1980+9T>G No assertion criteria ACACB-related disorder
- c.2779-7G>A No assertion criteria ACACB-related disorder
- c.3061-7G>A No assertion criteria ACACB-related disorder
- c.3792+8C>G No assertion criteria ACACB-related disorder
- c.4140-10G>T No assertion criteria ACACB-related disorder
- c.4239+7G>A No assertion criteria ACACB-related disorder
- c.4447-9C>T No assertion criteria ACACB-related disorder
- c.6787+6G>A No assertion criteria ACACB-related disorder
- c.786+7A>T No assertion criteria ACACB-related disorder
- c.*9C>T No assertion criteria ACACB-related disorder
- p.Ala346= No assertion criteria ACACB-related disorder
- p.Ala696= No assertion criteria ACACB-related disorder
- p.Asn1391= No assertion criteria ACACB-related disorder
- p.Asn1760Ser No assertion criteria ACACB-related disorder
- p.Asn268= No assertion criteria ACACB-related disorder
- p.Asn841= No assertion criteria ACACB-related disorder
- p.Asp1316= No assertion criteria ACACB-related disorder
- p.Asp2409Asn No assertion criteria ACACB-related disorder
- p.Cys1319= No assertion criteria ACACB-related disorder
- p.Gln2383= No assertion criteria ACACB-related disorder
- p.Glu1853= No assertion criteria ACACB-related disorder
- p.Glu1923Gln No assertion criteria ACACB-related disorder ⚠
- p.Gly2311= No assertion criteria ACACB-related disorder
- p.His2301= No assertion criteria ACACB-related disorder
- p.His497= No assertion criteria ACACB-related disorder
- p.Leu2275= No assertion criteria ACACB-related disorder
- p.Phe1375= No assertion criteria ACACB-related disorder
- p.Pro1054= No assertion criteria ACACB-related disorder
- p.Pro219Leu No assertion criteria ACACB-related disorder
- p.Pro43= No assertion criteria ACACB-related disorder
- p.Pro474= No assertion criteria ACACB-related disorder
- p.Thr2005= No assertion criteria ACACB-related disorder
- p.Thr2060= No assertion criteria ACACB-related disorder
- p.Thr733= No assertion criteria ACACB-related disorder
- p.Thr753= No assertion criteria ACACB-related disorder
- p.Tyr1618= No assertion criteria ACACB-related disorder
- p.Val391= No assertion criteria ACACB-related disorder
Uncertain significance 389
Showing the top 300 by review status; the full set is in the sitemap.
- p.Val958Met Multiple submitters ⚠
- p.Ala1050Glu Single submitter ⚠
- p.Ala1175Thr Single submitter ⚠
- p.Ala1221Asp Single submitter ⚠
- p.Ala1284Ser Single submitter ⚠
- p.Ala1303Thr Single submitter ⚠
- p.Ala137Gly Single submitter ⚠
- p.Ala1402Thr Single submitter ⚠
- p.Ala1430Thr Single submitter ⚠
- p.Ala144Val Single submitter ⚠
- p.Ala1512Thr Single submitter ⚠
- p.Ala1544Thr Single submitter ⚠
- p.Ala1644Thr Single submitter ⚠
- p.Ala1848Ser Single submitter ⚠
- p.Ala198Pro Single submitter ⚠
- p.Ala2050Val Single submitter ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala2119Val Single submitter ⚠
- p.Ala2254Pro Single submitter ⚠
- p.Ala2298Ser Single submitter ⚠
- p.Ala2298Thr Single submitter ⚠
- p.Ala2322Thr Single submitter ⚠
- p.Ala2346Gly Single submitter ⚠
- p.Ala2443Val Single submitter ⚠
- p.Ala2456Thr Single submitter ⚠
- p.Ala346Glu Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala470Gly Single submitter ⚠
- p.Ala608Thr Single submitter ⚠
- p.Ala644Thr Single submitter ⚠
- p.Ala785Pro Single submitter ⚠
- p.Ala806Glu Single submitter ⚠
- p.Ala829Ser Single submitter ⚠
- p.Arg1033Trp Single submitter ⚠
- p.Arg1062Cys Single submitter ⚠
- p.Arg1097Gln Single submitter ⚠
- p.Arg1123His Single submitter ⚠
- p.Arg1239Trp Single submitter ⚠
- p.Arg1312Trp Single submitter ⚠
- p.Arg1334Trp Single submitter ⚠
- p.Arg1365Cys Single submitter ⚠
- p.Arg1443Gln Single submitter ⚠
- p.Arg1459Gln Single submitter ⚠
- p.Arg1487Cys Single submitter ⚠
- p.Arg1487His Single submitter ⚠
- p.Arg1490His Single submitter ⚠
- p.Arg1506His Single submitter ⚠
- p.Arg1617Cys Single submitter ⚠
- p.Arg1617His Single submitter ⚠
- p.Arg1626His Single submitter ⚠
- p.Arg1637Cys Single submitter ⚠
- p.Arg1648His Single submitter ⚠
- p.Arg1648Leu Single submitter ⚠
- p.Arg1798His Single submitter ⚠
- p.Arg1871Gly Single submitter ⚠
- p.Arg1934Gln Single submitter ⚠
- p.Arg193Trp Single submitter ⚠
- p.Arg1948Gln Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg213His Single submitter ⚠
- p.Arg2146Gln Single submitter ⚠
- p.Arg2200Trp Single submitter ⚠
- p.Arg2278Trp Single submitter ⚠
- p.Arg2282Cys Single submitter ⚠
- p.Arg2282His Single submitter ⚠
- p.Arg2323Cys Single submitter ⚠
- p.Arg2360His Single submitter ⚠
- p.Arg2396His Single submitter ⚠
- p.Arg2442Gln Single submitter ⚠
- p.Arg2442Trp Single submitter ⚠
- p.Arg253Leu Single submitter ⚠
- p.Arg280Cys Single submitter ⚠
- p.Arg499His Single submitter ⚠
- p.Arg526Trp Single submitter ⚠
- p.Arg584Cys Single submitter ⚠
- p.Arg615Trp Single submitter ⚠
- p.Arg620Gln Single submitter ⚠
- p.Arg645Gln Single submitter ⚠
- p.Arg675Gln Single submitter ⚠
- p.Arg710Gln Single submitter ⚠
- p.Arg727Gln Single submitter ⚠
- p.Arg851Gly Single submitter ⚠
- p.Arg851Trp Single submitter ⚠
- p.Arg878Gln Single submitter ⚠
- p.Arg88Trp Single submitter ⚠
- p.Arg89Ile Single submitter ⚠
- p.Arg941Trp Single submitter ⚠
- p.Arg947Cys Single submitter ⚠
- p.Arg960Lys Single submitter ⚠
- p.Arg960Ser Single submitter ⚠
- p.Asn1071Ile Single submitter ⚠
- p.Asn1343Asp Single submitter ⚠
- p.Asn1424Ile Single submitter ⚠
- p.Asn1517Ser Single submitter ⚠
- p.Asn1581Ser Single submitter ⚠
- p.Asn1595Ser Single submitter ⚠
- p.Asn164Ser Single submitter ⚠
- p.Asn1693Thr Single submitter ⚠
- p.Asn1989Ser Single submitter ⚠
- p.Asn2145Ile Single submitter ⚠
- p.Asn2145Ser Single submitter ⚠
- p.Asn325His Single submitter ⚠
- p.Asn325Ser Single submitter ⚠
- p.Asn367Ser Single submitter ⚠
- p.Asn883Ser Single submitter ⚠
- p.Asn935Lys Single submitter ⚠
- p.Asp108Asn Single submitter ⚠
- p.Asp1195Asn Single submitter ⚠
- p.Asp1200Tyr Single submitter ⚠
- p.Asp1356Asn Single submitter ⚠
- p.Asp1486Glu Single submitter ⚠
- p.Asp1751His Single submitter ⚠
- p.Asp1751Val Single submitter ⚠
- p.Asp178His Single submitter ⚠
- p.Asp1901Asn Single submitter ⚠
- p.Asp2028= Single submitter
- p.Asp2031Asn Single submitter ⚠
- p.Asp2315Asn Single submitter ⚠
- p.Asp2409Glu Single submitter ⚠
- p.Asp241Glu Single submitter ⚠
- p.Asp2428Glu Single submitter ⚠
- p.Asp597Asn Single submitter ⚠
- p.Asp752Asn Single submitter ⚠
- p.Asp784Gly Single submitter ⚠
- p.Asp848Ala Single submitter ⚠
- p.Asp964Asn Single submitter ⚠
- p.Asp965Glu Single submitter ⚠
- p.Asp965Val Single submitter ⚠
- p.Cys1011Trp Single submitter ⚠
- p.Cys275Tyr Single submitter ⚠
- p.Cys365Phe Single submitter ⚠
- p.Cys790Gly Single submitter ⚠
- p.Cys886Ser Single submitter ⚠
- p.Cys9Phe Single submitter ⚠
- p.Gln1562Lys Single submitter ⚠
- p.Gln1755Arg Single submitter ⚠
- p.Gln2356Arg Single submitter ⚠
- p.Gln2390His Single submitter ⚠
- p.Gln396Arg Single submitter ⚠
- p.Gln831Arg Single submitter ⚠
- p.Gln97Lys Single submitter ⚠
- p.Glu1201Lys Single submitter ⚠
- p.Glu1208Lys Single submitter ⚠
- p.Glu1261Lys Single submitter ⚠
- p.Glu126Asp Single submitter ⚠
- p.Glu1376Lys Single submitter ⚠
- p.Glu1409Lys Single submitter ⚠
- p.Glu1418Gly Single submitter ⚠
- p.Glu1418Lys Single submitter ⚠
- p.Glu1482Lys Single submitter ⚠
- p.Glu1531Asp Single submitter ⚠
- p.Glu1559Asp Single submitter ⚠
- p.Glu1631Lys Single submitter ⚠
- p.Glu1820Lys Single submitter ⚠
- p.Glu1884Lys Single submitter ⚠
- p.Glu1888Asp Single submitter ⚠
- p.Glu1953Gly Single submitter ⚠
- p.Glu2223Gln Single submitter ⚠
- p.Glu2260Lys Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu56Gln Single submitter ⚠
- p.Glu872Lys Single submitter ⚠
- p.Glu926Lys Single submitter ⚠
- p.Glu990Lys Single submitter ⚠
- p.Gly1124Asp Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Gly1300Ser Single submitter ⚠
- p.Gly1358Ser Single submitter ⚠
- p.Gly1457Arg Single submitter ⚠
- p.Gly145Val Single submitter ⚠
- p.Gly1525Ser Single submitter ⚠
- p.Gly1673Val Single submitter ⚠
- p.Gly1681Ser Single submitter ⚠
- p.Gly1689Glu Single submitter ⚠
- p.Gly1910Cys Single submitter ⚠
- p.Gly191Asp Single submitter ⚠
- p.Gly2064Arg Single submitter ⚠
- p.Gly2069Ser Single submitter ⚠
- p.Gly2162Ser Single submitter ⚠
- p.Gly2181Ser Single submitter ⚠
- p.Gly2227Ser Single submitter ⚠
- p.Gly2348Arg Single submitter ⚠
- p.Gly255Ala Single submitter ⚠
- p.Gly269Arg Single submitter ⚠
- p.Gly352Asp Single submitter ⚠
- p.Gly419Glu Single submitter ⚠
- p.Gly440Ala Single submitter ⚠
- p.Gly667Arg Single submitter ⚠
- p.Gly754Arg Single submitter ⚠
- p.Gly774Arg Single submitter ⚠
- p.Gly778Arg Single submitter ⚠
- p.Gly820Arg Single submitter ⚠
- p.Gly821Val Single submitter ⚠
- p.Gly882Ser Single submitter ⚠
- p.Gly989Arg Single submitter ⚠
- p.His1091Arg Single submitter ⚠
- p.His1283Arg Single submitter ⚠
- p.His1349Arg Single submitter ⚠
- p.His589Arg Single submitter ⚠
- p.His614Gln Single submitter ⚠
- p.His970Gln Single submitter ⚠
- p.Ile1072Val Single submitter ⚠
- p.Ile1122Val Single submitter ⚠
- p.Ile1154Met Single submitter ⚠
- p.Ile1246Met Single submitter ⚠
- p.Ile1251Val Single submitter ⚠
- p.Ile1273Val Single submitter ⚠
- p.Ile1420Leu Single submitter ⚠
- p.Ile1420Thr Single submitter ⚠
- p.Ile1465Thr Single submitter ⚠
- p.Ile1465Val Single submitter ⚠
- p.Ile1488Val Single submitter ⚠
- p.Ile1601Thr Single submitter ⚠
- p.Ile1661Val Single submitter ⚠
- p.Ile1675Asn Single submitter ⚠
- p.Ile1692Thr Single submitter ⚠
- p.Ile1742Asn Single submitter ⚠
- p.Ile1791Val Single submitter ⚠
- p.Ile1795Val Single submitter ⚠
- p.Ile1799Val Single submitter ⚠
- p.Ile2211Phe Single submitter ⚠
- p.Ile2237Thr Single submitter ⚠
- p.Ile2289Met Single submitter ⚠
- p.Ile2289Val Single submitter ⚠
- p.Ile2313Lys Single submitter ⚠
- p.Ile2431Thr Single submitter ⚠
- p.Ile338Val Single submitter ⚠
- p.Ile489= Single submitter
- p.Ile825Val Single submitter ⚠
- p.Ile845Ser Single submitter ⚠
- p.Leu1003His Single submitter ⚠
- p.Leu1206Val Single submitter ⚠
- p.Leu1277Arg Single submitter ⚠
- p.Leu1415Pro Single submitter ⚠
- p.Leu2049Arg Single submitter ⚠
- p.Leu205Val Single submitter ⚠
- p.Leu2229Pro Single submitter ⚠
- p.Leu224Val Single submitter ⚠
- p.Leu2267Phe Single submitter ⚠
- p.Leu2279Arg Single submitter ⚠
- p.Leu67Val Single submitter ⚠
- p.Leu897Val Single submitter ⚠
- p.Lys1180Gln Single submitter ⚠
- p.Lys1219Glu Single submitter ⚠
- p.Lys158Gln Single submitter ⚠
- p.Lys1857Glu Single submitter ⚠
- p.Lys2222Thr Single submitter ⚠
- p.Lys2407Asn Single submitter ⚠
- p.Lys359Thr Single submitter ⚠
- p.Lys556Asn Single submitter ⚠
- p.Lys83Arg Single submitter ⚠
- p.Lys946Arg Single submitter ⚠
- p.Met1007Ile Single submitter ⚠
- p.Met1029Ile Single submitter ⚠
- p.Met1290Val Single submitter ⚠
- p.Met1355Val Single submitter ⚠
- p.Met1366Val Single submitter ⚠
- p.Met1573Thr Single submitter ⚠
- p.Met162Arg Single submitter ⚠
- p.Met1837Val Single submitter ⚠
- p.Met2013Val Single submitter ⚠
- p.Met2259Ile Single submitter ⚠
- p.Met2259Thr Single submitter ⚠
- p.Met2358Val Single submitter ⚠
- p.Met298Thr Single submitter ⚠
- p.Met452Val Single submitter ⚠
- p.Met594Ile Single submitter ⚠
- p.Met840Lys Single submitter ⚠
- p.Met930Val Single submitter ⚠
- p.Phe1172Val Single submitter ⚠
- p.Phe1280Ile Single submitter ⚠
- p.Phe17Ser Single submitter ⚠
- p.Phe1845Tyr Single submitter ⚠
- p.Phe2066Tyr Single submitter ⚠
- p.Phe2130Leu Single submitter ⚠
- p.Phe2160Leu Single submitter ⚠
- p.Phe242Val Single submitter ⚠
- p.Phe578Leu Single submitter ACACB-related disorder ⚠
- p.Phe695Leu Single submitter ⚠
- p.Pro1038Leu Single submitter ⚠
- p.Pro1328Leu Single submitter ⚠
- p.Pro1344Ala Single submitter ⚠
- p.Pro1397Arg Single submitter ⚠
- p.Pro1440Leu Single submitter ⚠
- p.Pro2213Leu Single submitter ⚠
- p.Pro2253Arg Single submitter ⚠
- p.Pro2455Leu Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro358Arg Single submitter ⚠
- p.Pro358Ser Single submitter ⚠
- p.Pro361Leu Single submitter ⚠
- p.Pro47His Single submitter ⚠
- p.Pro601Leu Single submitter ⚠
- p.Pro638Ser Single submitter ⚠
- p.Pro76Ser Single submitter ⚠
- p.Pro94Leu Single submitter ⚠
- p.Ser106Cys Single submitter ⚠
- p.Ser1173Ala Single submitter ⚠
- p.Ser1448Tyr Single submitter ⚠
- p.Ser1557Pro Single submitter ⚠