REV3L — 429 ClinVar variants
All ClinVar germline REV3L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 251 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 13 Conflicting · 46 Benign · 7 Benign/Likely benign · 75 Likely benign · 285 Uncertain significance
Full REV3L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 251
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
REV3L p.Arg187Trp
Likely pathogenic
Single submitter
colon carcinoma
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
REV3L p.Ala1094Thr
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1740Cys
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Arg882His
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Asn1485Asp
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Asn353Thr
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Gln1426Arg
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2115Ser
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Met1345Lys
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Ser1302Thr
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Ser1869Ile
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Ser2201Gly
Conflicting
Single submitter
Inborn genetic diseases
-
REV3L p.Thr1372Ala
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 220
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 220
-
REV3L p.Arg1970Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
REV3L p.Ala1055Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala1147Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala1237Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala1252Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala1273Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala1820Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala2064Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala2076Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala263Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala564Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ala90Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1064Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1391Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1404His
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1573Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1575Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1804Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1887Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1932Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1950Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg2003Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg2360Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg2525His
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg2859Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg2939Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg2968Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg3029Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg3095Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg3112Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg882Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn1093Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn1192Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn129Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn1545Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn1553Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn1694His
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn2252Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn3069His
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn3114Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn353Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn443Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn700Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn856Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn887Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asn93Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp1203Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp1700Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp1705Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp1797Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp1846Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp2268Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp2847Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp326Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp499Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp511Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Asp870Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Cys1442Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Cys2194Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Cys481Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln1370Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln1474Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln1524Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln1864Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln1905Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln2086Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln2286Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln29Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln348Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gln578Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu1068Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu1301Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu1434Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu1692Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu1785Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu1835Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu2107Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu2151Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu215Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu2195Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu2375Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu3080Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu429Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu663Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Glu868Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gly1060Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gly1808Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gly428Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gly824Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Gly851Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His1046Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His1421Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His2519Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His2636Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His3016Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His3041Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His367Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.His480Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1005Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1334Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1358Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1374Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1389Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1561Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1652Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile1821Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2185Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile219Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2371Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2429Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2667Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2667Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2904Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2953Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile2986Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile458Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile477Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile521Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile659Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Ile666Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu1074Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu1149Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu1243Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu1365Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu1394Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu1394Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu2231Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu2534Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu2611Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu3107Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu414Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu76Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu904Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys1058Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys1205Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys1240Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys1510Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys1991Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys199Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys310Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys608Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met1270Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met1759Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met1986Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met2408Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met2453Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met2785Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met463Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Met756Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Phe3093Ser
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 18
The independent predictors disagree with each other — read with care.
- REV3L p.Ser1119Gly Benign/Likely benign Multiple submitters
-
REV3L p.Ala1955Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg1537Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg2471Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg775Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Arg923Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Cys1632Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu2694Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Leu772Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys1998Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Lys977Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- REV3L p.Met1995Thr Likely benign Single submitter
-
REV3L p.Met2453Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Phe1112Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Phe910Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Pro522Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Thr3038Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
REV3L p.Trp1717Arg
Uncertain significance
Single submitter
Inborn genetic diseases
All REV3L variants
Pathogenic 2
- p.Arg2948Ter Single submitter
- p.Gln2074fs Single submitter
Likely pathogenic 1
- p.Arg187Trp Single submitter colon carcinoma ⚠
Conflicting classifications of pathogenicity 13
- p.Ala1094Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1740Cys Single submitter Inborn genetic diseases ⚠
- p.Arg882His Single submitter Inborn genetic diseases ⚠
- p.Asn1485Asp Single submitter Inborn genetic diseases ⚠
- p.Asn353Thr Single submitter Inborn genetic diseases ⚠
- p.Gln1426Arg Single submitter Inborn genetic diseases ⚠
- p.Ile2115Ser Single submitter Inborn genetic diseases ⚠
- p.Met1345Lys Single submitter Inborn genetic diseases ⚠
- p.Ser1302Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1869Ile Single submitter Inborn genetic diseases ⚠
- p.Ser2201Gly Single submitter Inborn genetic diseases ⚠
- p.Thr1372Ala Single submitter Inborn genetic diseases ⚠
- p.Val2823Leu Single submitter Inborn genetic diseases
Benign 46
- p.Ala565= Multiple submitters
- c.1217-8T>C Single submitter
- c.6754-5dup Single submitter
- c.7420-3dup Single submitter
- c.7538+4C>T Single submitter
- c.8604+10A>C Single submitter
- c.8796-6G>A Single submitter
- p.Arg2762Gln Single submitter
- p.Arg3029Gln Single submitter
- p.Arg3073= Single submitter
- p.Arg432= Single submitter
- p.Asn1418= Single submitter
- p.Asn982= Single submitter
- p.Gln1003Lys Single submitter
- p.Gln1309His Single submitter
- p.Gln1765= Single submitter
- p.Gly902= Single submitter
- p.Ile1397= Single submitter
- p.Ile3015= Single submitter
- p.Ile951= Single submitter
- p.Leu1101= Single submitter
- p.Leu2210= Single submitter
- p.Leu873= Single submitter
- p.Pro1042= Single submitter
- p.Pro1550= Single submitter
- p.Pro1596Leu Single submitter
- p.Pro434Thr Single submitter
- p.Ser1495= Single submitter
- p.Ser297Asn Single submitter
- p.Ser624Ala Single submitter
- p.Ser633Gly Single submitter
- p.Thr1224Ile Single submitter
- p.Tyr2113Cys Single submitter
- p.Tyr3036= Single submitter
- p.Val1187Ile Single submitter
- p.Val1430= Single submitter
- p.Val3064Ile Single submitter
- p.Val757= Single submitter
- p.Ala1143= No assertion criteria REV3L-related disorder
- p.Arg1970His No assertion criteria REV3L-related disorder
- p.Asp1812His No assertion criteria REV3L-related disorder
- p.Leu2022= No assertion criteria REV3L-related disorder
- p.Pro1791Ser No assertion criteria REV3L-related disorder
- p.Pro2103= No assertion criteria REV3L-related disorder
- p.Ser1220Leu No assertion criteria REV3L-related disorder
- p.Tyr1156Cys No assertion criteria REV3L-related disorder
Benign/Likely benign 7
- p.Glu2015Val Multiple submitters
- p.Gly1721= Multiple submitters
- p.Ile1327Val Multiple submitters
- p.Lys1158Asn Multiple submitters
- p.Lys1232Ile Multiple submitters
- p.Ser1119Gly Multiple submitters ⚠
- p.Ser518Asn Multiple submitters Inborn genetic diseases
Likely benign 75
- p.His367= Multiple submitters
- p.Leu2213= Multiple submitters
- p.Pro1031Leu Multiple submitters
- p.Pro2657= Multiple submitters
- p.Ser1720= Multiple submitters
- p.Ser3034Ala Multiple submitters
- p.Thr496Ala Multiple submitters
- c.330-9A>G Single submitter
- c.565+9A>G Single submitter
- c.6879+9G>A Single submitter
- c.6880-9C>T Single submitter
- c.7185-5T>A Single submitter
- c.7185-6T>C Single submitter
- c.8466+9A>G Single submitter
- c.8796-7C>T Single submitter
- p.Ala155= Single submitter
- p.Ala2419= Single submitter
- p.Ala565Thr Single submitter
- p.Ala86= Single submitter
- p.Arg1169Cys Single submitter
- p.Arg2427Gln Single submitter Inborn genetic diseases
- p.Arg2948= Single submitter
- p.Arg438His Single submitter Inborn genetic diseases
- p.Asn1335Ser Single submitter
- p.Asn1446= Single submitter
- p.Asn1795Ser Single submitter Inborn genetic diseases
- p.Asn3114= Single submitter
- p.Asn713Tyr Single submitter
- p.Asp511Asn Single submitter Inborn genetic diseases
- p.Cys1442Tyr Single submitter
- p.Cys1997= Single submitter
- p.Gln780= Single submitter
- p.Gly260= Single submitter
- p.His480= Single submitter
- p.His641_Glu643delinsGln Single submitter
- p.Ile1174Val Single submitter Inborn genetic diseases
- p.Ile2132Val Single submitter Inborn genetic diseases
- p.Ile559Val Single submitter
- p.Leu1926= Single submitter
- p.Leu2209= Single submitter
- p.Leu2374= Single submitter
- p.Leu732= Single submitter
- p.Leu912= Single submitter
- p.Lys963= Single submitter
- p.Met132Val Single submitter Inborn genetic diseases
- p.Met1995Thr Single submitter ⚠
- p.Phe2318= Single submitter
- p.Phe405Tyr Single submitter
- p.Pro1028= Single submitter
- p.Pro1444= Single submitter
- p.Pro2061His Single submitter
- p.Pro2172= Single submitter
- p.Ser1609= Single submitter
- p.Ser2146= Single submitter
- p.Ser325= Single submitter
- p.Ser520= Single submitter
- p.Ser545Phe Single submitter
- p.Ser733= Single submitter
- p.Thr1578= Single submitter
- p.Thr2241= Single submitter
- p.Tyr2016= Single submitter Inborn genetic diseases
- p.Val1430Met Single submitter
- p.Val40Ile Single submitter Inborn genetic diseases
- c.405-10dup No assertion criteria REV3L-related disorder
- c.-4G>A No assertion criteria REV3L-related disorder
- p.Asp896= No assertion criteria REV3L-related disorder
- p.His193= No assertion criteria REV3L-related disorder
- p.His696Leu No assertion criteria REV3L-related disorder
- p.Leu2935= No assertion criteria REV3L-related disorder
- p.Leu2980= No assertion criteria REV3L-related disorder
- p.Leu76= No assertion criteria REV3L-related disorder
- p.Pro697Ala No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Ser105= No assertion criteria REV3L-related disorder
- p.Ser142= No assertion criteria REV3L-related disorder
- p.Ser3022= No assertion criteria REV3L-related disorder
Uncertain significance 285
- p.Arg1970Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ala1055Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1147Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1237Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1252Glu Single submitter Inborn genetic diseases ⚠
- p.Ala1273Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1820Val Single submitter Inborn genetic diseases ⚠
- p.Ala1955Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2064Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2076Val Single submitter Inborn genetic diseases ⚠
- p.Ala263Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2719Val Single submitter Inborn genetic diseases
- p.Ala564Ser Single submitter Inborn genetic diseases ⚠
- p.Ala90Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1064Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1080Leu Single submitter Inborn genetic diseases
- p.Arg1391Ile Single submitter Inborn genetic diseases ⚠
- p.Arg1404His Single submitter Inborn genetic diseases ⚠
- p.Arg1537Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1573Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1575Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1584Ter Single submitter
- p.Arg1804Ile Single submitter Inborn genetic diseases ⚠
- p.Arg1887Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1932Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1950Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2003Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2360Thr Single submitter Inborn genetic diseases ⚠
- p.Arg2471Ser Single submitter Inborn genetic diseases ⚠
- p.Arg2492His Single submitter Inborn genetic diseases
- p.Arg2525His Single submitter Inborn genetic diseases ⚠
- p.Arg2604Cys Single submitter Inborn genetic diseases
- p.Arg2604His Single submitter Inborn genetic diseases
- p.Arg2859Thr Single submitter Inborn genetic diseases ⚠
- p.Arg2939Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2968Cys Single submitter Inborn genetic diseases ⚠
- p.Arg3029Trp Single submitter Inborn genetic diseases ⚠
- p.Arg3073Trp Single submitter Inborn genetic diseases
- p.Arg3095Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3112Gln Single submitter Inborn genetic diseases ⚠
- p.Arg775Ser Single submitter Inborn genetic diseases ⚠
- p.Arg882Cys Single submitter Inborn genetic diseases ⚠
- p.Arg923Cys Single submitter Inborn genetic diseases ⚠
- p.Arg923His Single submitter Inborn genetic diseases
- p.Arg964Gln Single submitter Inborn genetic diseases
- p.Asn1093Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1192Lys Single submitter Inborn genetic diseases ⚠
- p.Asn129Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1545Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1553Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1694His Single submitter Inborn genetic diseases ⚠
- p.Asn2252Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3069His Single submitter Inborn genetic diseases ⚠
- p.Asn3114Lys Single submitter Inborn genetic diseases ⚠
- p.Asn353Ser Single submitter Inborn genetic diseases ⚠
- p.Asn443Lys Single submitter Inborn genetic diseases ⚠
- p.Asn537Lys Single submitter Inborn genetic diseases
- p.Asn700Asp Single submitter Inborn genetic diseases ⚠
- p.Asn856Lys Single submitter Inborn genetic diseases ⚠
- p.Asn887Ser Single submitter Inborn genetic diseases ⚠
- p.Asn93Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1203Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1626fs Single submitter REV3L-related disorder
- p.Asp1680Val Single submitter Inborn genetic diseases
- p.Asp1684Asn Single submitter Inborn genetic diseases
- p.Asp1700Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1705Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1797Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1846Gly Single submitter Inborn genetic diseases ⚠
- p.Asp2268Val Single submitter Inborn genetic diseases ⚠
- p.Asp250His Single submitter Inborn genetic diseases
- p.Asp2847Glu Single submitter Inborn genetic diseases ⚠
- p.Asp326Asn Single submitter Inborn genetic diseases ⚠
- p.Asp411His Single submitter Inborn genetic diseases
- p.Asp499Asn Single submitter Inborn genetic diseases ⚠
- p.Asp511Gly Single submitter Inborn genetic diseases ⚠
- p.Asp870Asn Single submitter Inborn genetic diseases ⚠
- p.Cys1442Arg Single submitter Inborn genetic diseases ⚠
- p.Cys1632Trp Single submitter Inborn genetic diseases ⚠
- p.Cys1658Phe Single submitter Inborn genetic diseases
- p.Cys2194Arg Single submitter Inborn genetic diseases ⚠
- p.Cys481Trp Single submitter Inborn genetic diseases ⚠
- p.Cys579Tyr Single submitter Inborn genetic diseases
- p.Gln1370Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1474Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1524Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1665His Single submitter Inborn genetic diseases
- p.Gln1864Leu Single submitter Inborn genetic diseases ⚠
- p.Gln1905Glu Single submitter Inborn genetic diseases ⚠
- p.Gln2086Glu Single submitter Inborn genetic diseases ⚠
- p.Gln2286Glu Single submitter Inborn genetic diseases ⚠
- p.Gln2989Glu Single submitter Inborn genetic diseases
- p.Gln29Glu Single submitter Inborn genetic diseases ⚠
- p.Gln348Arg Single submitter Inborn genetic diseases ⚠
- p.Gln578Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1068Val Single submitter Inborn genetic diseases ⚠
- p.Glu1301Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1434Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1692Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1785Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1835Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2107Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2151Asp Single submitter Inborn genetic diseases ⚠
- p.Glu215Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2195Val Single submitter Inborn genetic diseases ⚠
- p.Glu2375Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2455Asp Single submitter Inborn genetic diseases
- p.Glu2856Lys Single submitter Inborn genetic diseases
- p.Glu3080Asp Single submitter Inborn genetic diseases ⚠
- p.Glu429Lys Single submitter Inborn genetic diseases ⚠
- p.Glu663Val Single submitter Inborn genetic diseases ⚠
- p.Glu868Lys Single submitter Inborn genetic diseases ⚠
- p.Glu933Lys Single submitter Inborn genetic diseases
- p.Gly1060Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1808Arg Single submitter Inborn genetic diseases ⚠
- p.Gly2344Ser Single submitter Inborn genetic diseases
- p.Gly428Val Single submitter Inborn genetic diseases ⚠
- p.Gly504del Single submitter
- p.Gly824Val Single submitter Inborn genetic diseases ⚠
- p.Gly851Arg Single submitter Inborn genetic diseases ⚠
- p.His1046Pro Single submitter Inborn genetic diseases ⚠
- p.His1421Asn Single submitter Inborn genetic diseases ⚠
- p.His2519Tyr Single submitter Inborn genetic diseases ⚠
- p.His2636Asp Single submitter Inborn genetic diseases ⚠
- p.His3016Arg Single submitter Inborn genetic diseases ⚠
- p.His3041Arg Single submitter Inborn genetic diseases ⚠
- p.His367Tyr Single submitter Inborn genetic diseases ⚠
- p.His480Asp Single submitter Inborn genetic diseases ⚠
- p.Ile1005Thr Single submitter Inborn genetic diseases ⚠
- p.Ile1334Leu Single submitter Inborn genetic diseases ⚠
- p.Ile1358Met Single submitter Inborn genetic diseases ⚠
- p.Ile1374Leu Single submitter Inborn genetic diseases ⚠
- p.Ile1389Met Single submitter Inborn genetic diseases ⚠
- p.Ile1561Thr Single submitter Inborn genetic diseases ⚠
- p.Ile1652Val Single submitter Inborn genetic diseases ⚠
- p.Ile1821Val Single submitter Inborn genetic diseases ⚠
- p.Ile2185Val Single submitter Inborn genetic diseases ⚠
- p.Ile219Met Single submitter Inborn genetic diseases ⚠
- p.Ile2371Met Single submitter Inborn genetic diseases ⚠
- p.Ile2429Val Single submitter Inborn genetic diseases ⚠
- p.Ile2667Met Single submitter Inborn genetic diseases ⚠
- p.Ile2667Val Single submitter Inborn genetic diseases ⚠
- p.Ile2869Thr Single submitter Inborn genetic diseases
- p.Ile2904Met Single submitter Inborn genetic diseases ⚠
- p.Ile2953Val Single submitter Inborn genetic diseases ⚠
- p.Ile2986Val Single submitter Inborn genetic diseases ⚠
- p.Ile458Thr Single submitter Inborn genetic diseases ⚠
- p.Ile477Val Single submitter Inborn genetic diseases ⚠
- p.Ile521Val Single submitter Inborn genetic diseases ⚠
- p.Ile659Ser Single submitter Inborn genetic diseases ⚠
- p.Ile666Ser Single submitter Inborn genetic diseases ⚠
- p.Ile980Val Single submitter Inborn genetic diseases
- p.Leu1074Val Single submitter Inborn genetic diseases ⚠
- p.Leu1149Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1243Val Single submitter Inborn genetic diseases ⚠
- p.Leu1365Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1394Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1394Trp Single submitter Inborn genetic diseases ⚠
- p.Leu1839Pro Single submitter Inborn genetic diseases
- p.Leu2231Phe Single submitter Inborn genetic diseases ⚠
- p.Leu2511Gln Single submitter Inborn genetic diseases
- p.Leu2534Val Single submitter Inborn genetic diseases ⚠
- p.Leu2611Ile Single submitter Inborn genetic diseases ⚠
- p.Leu2694fs Single submitter
- p.Leu2694Val Single submitter Inborn genetic diseases ⚠
- p.Leu2991Phe Single submitter Inborn genetic diseases
- p.Leu3107Val Single submitter Inborn genetic diseases ⚠
- p.Leu342delinsHisIleAlaLeuTer Single submitter
- p.Leu414Val Single submitter Inborn genetic diseases ⚠
- p.Leu76Val Single submitter Inborn genetic diseases ⚠
- p.Leu772Phe Single submitter Inborn genetic diseases ⚠
- p.Leu904Ser Single submitter Inborn genetic diseases ⚠
- p.Lys1058Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1176Glu Single submitter Inborn genetic diseases
- p.Lys1205Glu Single submitter Inborn genetic diseases ⚠
- p.Lys1240Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1510Glu Single submitter Inborn genetic diseases ⚠
- p.Lys1991Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1998Thr Single submitter Inborn genetic diseases ⚠
- p.Lys199Arg Single submitter Inborn genetic diseases ⚠
- p.Lys2508fs Single submitter
- p.Lys310Ile Single submitter Inborn genetic diseases ⚠
- p.Lys33Ter Single submitter
- p.Lys608Asn Single submitter Inborn genetic diseases ⚠
- p.Lys916Arg Single submitter Inborn genetic diseases
- p.Lys977Asn Single submitter Inborn genetic diseases ⚠
- p.Met1270Ile Single submitter Inborn genetic diseases ⚠
- p.Met1483Lys Single submitter Inborn genetic diseases
- p.Met1759Ile Single submitter Inborn genetic diseases ⚠
- p.Met1986Thr Single submitter Inborn genetic diseases ⚠
- p.Met2408Leu Single submitter Inborn genetic diseases ⚠
- p.Met2453Ile Single submitter Inborn genetic diseases ⚠
- p.Met2453Val Single submitter Inborn genetic diseases ⚠
- p.Met2704Val Single submitter Inborn genetic diseases
- p.Met2785Val Single submitter Inborn genetic diseases ⚠
- p.Met2839Ile Single submitter Inborn genetic diseases
- p.Met2839Thr Single submitter Inborn genetic diseases
- p.Met463Val Single submitter Inborn genetic diseases ⚠
- p.Met756Val Single submitter Inborn genetic diseases ⚠
- p.Phe1112Leu Single submitter Inborn genetic diseases ⚠
- p.Phe3093Ser Single submitter Inborn genetic diseases ⚠
- p.Phe440Cys Single submitter Inborn genetic diseases ⚠
- p.Phe910Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1039Ala Single submitter Inborn genetic diseases
- p.Pro1042Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1120Ser Single submitter Inborn genetic diseases
- p.Pro1339Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1493Arg Single submitter Inborn genetic diseases ⚠
- p.Pro1517Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1687Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1825Leu Single submitter Inborn genetic diseases
- p.Pro1885Arg Single submitter Inborn genetic diseases
- p.Pro2027Leu Single submitter Inborn genetic diseases ⚠
- p.Pro2134Leu Single submitter Inborn genetic diseases ⚠
- p.Pro2134Ser Single submitter Inborn genetic diseases ⚠
- p.Pro2145Thr Single submitter Inborn genetic diseases ⚠
- p.Pro2184Leu Single submitter Inborn genetic diseases ⚠
- p.Pro2976Ser Single submitter Inborn genetic diseases ⚠
- p.Pro2976Thr Single submitter Inborn genetic diseases ⚠
- p.Pro436Ala Single submitter Inborn genetic diseases ⚠
- p.Pro522Ser Single submitter Inborn genetic diseases ⚠
- p.Pro823Ser Single submitter Inborn genetic diseases ⚠
- p.Pro946Ser Single submitter Inborn genetic diseases ⚠
- p.Pro948Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1253Gly Single submitter Inborn genetic diseases ⚠
- p.Ser1366Cys Single submitter Inborn genetic diseases ⚠
- p.Ser1379Phe Single submitter Inborn genetic diseases ⚠
- p.Ser1406Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1439Gly Single submitter Inborn genetic diseases ⚠
- p.Ser1452Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1501Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1518Leu Single submitter Inborn genetic diseases ⚠
- p.Ser1610Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1796Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1810Cys Single submitter Inborn genetic diseases ⚠
- p.Ser1900Cys Single submitter Inborn genetic diseases ⚠
- p.Ser2002Gly Single submitter Inborn genetic diseases ⚠
- p.Ser2019Cys Single submitter Inborn genetic diseases ⚠
- p.Ser2118Cys Single submitter Inborn genetic diseases ⚠
- p.Ser2146Leu Single submitter Inborn genetic diseases ⚠
- p.Ser2582Gly Single submitter Inborn genetic diseases ⚠
- p.Ser3024Cys Single submitter Inborn genetic diseases ⚠
- p.Ser325Ile Single submitter Inborn genetic diseases ⚠
- p.Ser363Ala Single submitter Inborn genetic diseases ⚠
- p.Ser502Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser847Arg Single submitter Inborn genetic diseases ⚠
- p.Thr1059fs Single submitter
- p.Thr1059Ser Single submitter Inborn genetic diseases ⚠
- p.Thr1065Lys Single submitter Inborn genetic diseases ⚠
- p.Thr1118Arg Single submitter Inborn genetic diseases ⚠
- p.Thr1589Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1732Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1752Ile Single submitter Inborn genetic diseases ⚠
- p.Thr2066Ile Single submitter Inborn genetic diseases ⚠
- p.Thr2066Ser Single submitter Inborn genetic diseases ⚠
- p.Thr2082Met Single submitter Inborn genetic diseases ⚠
- p.Thr2298Ser Single submitter Inborn genetic diseases
- p.Thr2377Ile Single submitter Inborn genetic diseases ⚠
- p.Thr295Ile Single submitter Inborn genetic diseases ⚠
- p.Thr3038Ile Single submitter Inborn genetic diseases ⚠
- p.Thr350Ile Single submitter Inborn genetic diseases ⚠
- p.Thr730Ile Single submitter Inborn genetic diseases ⚠
- p.Thr850Ser Single submitter Inborn genetic diseases ⚠
- p.Thr881Ala Single submitter Inborn genetic diseases ⚠
- p.Thr889Pro Single submitter Inborn genetic diseases ⚠
- p.Trp1717Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr1038Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr2643Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr3036His Single submitter Inborn genetic diseases
- p.Tyr662His Single submitter Inborn genetic diseases ⚠
- p.Tyr678Asp Single submitter Inborn genetic diseases
- p.Tyr678His Single submitter Inborn genetic diseases
- p.Tyr75Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr819His Single submitter Inborn genetic diseases
- p.Val1274Ala Single submitter Inborn genetic diseases ⚠
- p.Val1667Ile Single submitter Inborn genetic diseases ⚠
- p.Val1975Ile Single submitter Inborn genetic diseases ⚠
- p.Val2124Ile Single submitter Inborn genetic diseases ⚠
- p.Val228Ile Single submitter Inborn genetic diseases ⚠
- p.Val2952Ile Single submitter Inborn genetic diseases ⚠
- p.Val2970Met Single submitter Inborn genetic diseases ⚠
- p.Val614Ala Single submitter Inborn genetic diseases ⚠
- p.Val757Met Single submitter Inborn genetic diseases ⚠
- p.Val925Ile Single submitter Inborn genetic diseases ⚠
- p.Ser532Thr No assertion criteria REV3L-related disorder ⚠