EML5 — 230 ClinVar variants

All ClinVar germline EML5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

4 Benign · 6 Likely benign · 220 Uncertain significance

Full EML5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 220

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 139

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 81

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

All EML5 variants

Benign 4

p.Ala1787Glu Multiple submitters
p.Thr194Met Multiple submitters
p.Val1361= Multiple submitters
c.5203-9dup Single submitter

Likely benign 6

p.Arg557Lys Single submitter
p.Ile1286Thr Single submitter
p.Ile1332Val Single submitter
p.Ile1604= Single submitter
p.Ile98Val Single submitter
p.Thr1129= Single submitter

Uncertain significance 220

p.Ala1575Thr Single submitter ⚠
p.Ala1606Val Single submitter ⚠
p.Ala1615Val Single submitter ⚠
p.Ala1746Val Single submitter ⚠
p.Ala1787Ser Single submitter ⚠
p.Ala1870Thr Single submitter ⚠
p.Ala237Val Single submitter ⚠
p.Ala245Thr Single submitter ⚠
p.Ala410Glu Single submitter ⚠
p.Ala410Pro Single submitter ⚠
p.Ala612Thr Single submitter ⚠
p.Ala664Ser Single submitter ⚠
p.Ala878Thr Single submitter ⚠
p.Ala878Val Single submitter ⚠
p.Ala901Val Single submitter ⚠
p.Arg1089Gln Single submitter ⚠
p.Arg120His Single submitter ⚠
p.Arg1245Cys Single submitter ⚠
p.Arg1274Gln Single submitter ⚠
p.Arg12Leu Single submitter ⚠
p.Arg1316Cys Single submitter ⚠
p.Arg1316His Single submitter ⚠
p.Arg1530Gln Single submitter ⚠
p.Arg1569Gln Single submitter ⚠
p.Arg1621Gln Single submitter ⚠
p.Arg1651His Single submitter ⚠
p.Arg1665Cys Single submitter ⚠
p.Arg1679Ser Single submitter ⚠
p.Arg1798Gln Single submitter ⚠
p.Arg1854Gln Single submitter ⚠
p.Arg1854Leu Single submitter ⚠
p.Arg230Gln Single submitter ⚠
p.Arg292Gln Single submitter ⚠
p.Arg370His Single submitter ⚠
p.Arg464Ser Single submitter ⚠
p.Arg4Gly Single submitter ⚠
p.Arg53Gly Single submitter ⚠
p.Arg570Lys Single submitter ⚠
p.Arg642His Single submitter ⚠
p.Arg715Gln Single submitter ⚠
p.Arg844Cys Single submitter ⚠
p.Arg891Ile Single submitter ⚠
p.Asn1068Asp Single submitter ⚠
p.Asn1143Ile Single submitter ⚠
p.Asn1409Ser Single submitter ⚠
p.Asn1521Ser Single submitter ⚠
p.Asn1581Ser Single submitter ⚠
p.Asn1582Lys Single submitter ⚠
p.Asn1738His Single submitter ⚠
p.Asn217Asp Single submitter ⚠
p.Asn227Ser Single submitter ⚠
p.Asn26Ser Single submitter ⚠
p.Asn428Ser Single submitter ⚠
p.Asn519Ser Single submitter ⚠
p.Asn825Lys Single submitter ⚠
p.Asn863Lys Single submitter ⚠
p.Asp1070Gly Single submitter ⚠
p.Asp1250Val Single submitter ⚠
p.Asp1285Asn Single submitter ⚠
p.Asp1395Gly Single submitter ⚠
p.Asp151Glu Single submitter ⚠
p.Asp1963Asn Single submitter ⚠
p.Asp294Gly Single submitter ⚠
p.Asp458Val Single submitter ⚠
p.Asp520Tyr Single submitter ⚠
p.Asp903Asn Single submitter ⚠
p.Gln1419Glu Single submitter ⚠
p.Gln656Arg Single submitter ⚠
p.Gln698Glu Single submitter ⚠
p.Gln96Lys Single submitter ⚠
p.Glu1192Asp Single submitter ⚠
p.Glu1636Gly Single submitter ⚠
p.Glu1806Gly Single submitter ⚠
p.Glu276Lys Single submitter ⚠
p.Gly1123Ala Single submitter ⚠
p.Gly1145Ser Single submitter ⚠
p.Gly1272Ser Single submitter ⚠
p.Gly1519Ser Single submitter ⚠
p.Gly1629Ala Single submitter ⚠
p.Gly1724Ala Single submitter ⚠
p.Gly1817Arg Single submitter ⚠
p.Gly18Asp Single submitter ⚠
p.Gly378Glu Single submitter ⚠
p.Gly436Ala Single submitter ⚠
p.Gly471Arg Single submitter ⚠
p.Gly494Ser Single submitter ⚠
p.Gly553Ala Single submitter ⚠
p.Gly59Ser Single submitter ⚠
p.Gly82Glu Single submitter ⚠
p.Gly852Arg Single submitter ⚠
p.Gly858Asp Single submitter ⚠
p.Gly969Asp Single submitter ⚠
p.Gly978Asp Single submitter ⚠
p.His1007Gln Single submitter ⚠
p.His10Arg Single submitter ⚠
p.His1421Tyr Single submitter ⚠
p.His1476Arg Single submitter ⚠
p.His1894Tyr Single submitter ⚠
p.His1956Gln Single submitter ⚠
p.His1974Tyr Single submitter ⚠
p.His22Tyr Single submitter ⚠
p.His357Asn Single submitter ⚠
p.His412Pro Single submitter ⚠
p.His456Tyr Single submitter ⚠
p.His496Asp Single submitter ⚠
p.His586Arg Single submitter ⚠
p.His615Arg Single submitter ⚠
p.His615Leu Single submitter ⚠
p.His615Tyr Single submitter ⚠
p.Ile1286Val Single submitter ⚠
p.Ile1368Thr Single submitter ⚠
p.Ile1731Thr Single submitter ⚠
p.Ile1768Val Single submitter ⚠
p.Ile1769Val Single submitter ⚠
p.Ile1823Thr Single submitter ⚠
p.Ile1910Val Single submitter ⚠
p.Ile1948Thr Single submitter ⚠
p.Ile226Val Single submitter ⚠
p.Ile360Val Single submitter ⚠
p.Ile529Val Single submitter ⚠
p.Ile735Met Single submitter ⚠
p.Ile735Val Single submitter ⚠
p.Ile755Leu Single submitter ⚠
p.Ile755Met Single submitter ⚠
p.Ile766Val Single submitter ⚠
p.Ile837Asn Single submitter ⚠
p.Ile851Thr Single submitter ⚠
p.Ile857Leu Single submitter ⚠
p.Leu1565Gln Single submitter ⚠
p.Leu476Ile Single submitter ⚠
p.Leu550Val Single submitter ⚠
p.Leu953Pro Single submitter ⚠
p.Lys1041Asn Single submitter ⚠
p.Lys1365Glu Single submitter ⚠
p.Lys1513Asn Single submitter ⚠
p.Lys1635Gln Single submitter ⚠
p.Lys1673Asn Single submitter ⚠
p.Lys1853Glu Single submitter ⚠
p.Lys1863Arg Single submitter ⚠
p.Lys1936Ile Single submitter ⚠
p.Lys1971Glu Single submitter ⚠
p.Lys34Arg Single submitter ⚠
p.Lys474Asn Single submitter ⚠
p.Lys558Arg Single submitter ⚠
p.Lys662Gln Single submitter ⚠
p.Lys667Glu Single submitter ⚠
p.Lys900Glu Single submitter ⚠
p.Lys942Arg Single submitter ⚠
p.Met1066Val Single submitter ⚠
p.Met1084Leu Single submitter ⚠
p.Met1084Thr Single submitter ⚠
p.Met1113Arg Single submitter ⚠
p.Met1318Ile Single submitter ⚠
p.Met1318Val Single submitter ⚠
p.Met1616Leu Single submitter ⚠
p.Met1736Thr Single submitter ⚠
p.Met1866Thr Single submitter ⚠
p.Met824Val Single submitter ⚠
p.Phe1832Ser Single submitter ⚠
p.Phe1950Leu Single submitter ⚠
p.Phe932Ser Single submitter ⚠
p.Pro1029Ala Single submitter ⚠
p.Pro1163Arg Single submitter ⚠
p.Pro1188Thr Single submitter ⚠
p.Pro1350Ser Single submitter ⚠
p.Pro1456Thr Single submitter ⚠
p.Pro1818Ser Single submitter ⚠
p.Pro1976Ser Single submitter ⚠
p.Pro607Ser Single submitter ⚠
p.Ser1086Pro Single submitter ⚠
p.Ser1105Asn Single submitter ⚠
p.Ser1164Thr Single submitter ⚠
p.Ser1203Gly Single submitter ⚠
p.Ser285Phe Single submitter ⚠
p.Ser348Leu Single submitter ⚠
p.Ser676Arg Single submitter ⚠
p.Ser950Pro Single submitter ⚠
p.Thr1267Arg Single submitter ⚠
p.Thr1549Asn Single submitter ⚠
p.Thr1584Met Single submitter ⚠
p.Thr1725Ile Single submitter ⚠
p.Thr1875Ser Single submitter ⚠
p.Thr300Ala Single submitter ⚠
p.Thr468Ala Single submitter ⚠
p.Thr468Ile Single submitter ⚠
p.Thr489Ala Single submitter ⚠
p.Thr489Ser Single submitter ⚠
p.Thr665Ala Single submitter ⚠
p.Thr874Ile Single submitter ⚠
p.Thr938Ser Single submitter ⚠
p.Trp1548Cys Single submitter ⚠
p.Trp577Arg Single submitter ⚠
p.Tyr1390Cys Single submitter ⚠
p.Tyr1751Cys Single submitter ⚠
p.Tyr1857Cys Single submitter ⚠
p.Tyr29Cys Single submitter ⚠
p.Tyr559Cys Single submitter ⚠
p.Tyr827Cys Single submitter ⚠
p.Val1001Met Single submitter ⚠
p.Val1057Ile Single submitter ⚠
p.Val1142Ile Single submitter ⚠
p.Val1165Leu Single submitter ⚠
p.Val1178Ile Single submitter ⚠
p.Val1241Asp Single submitter ⚠
p.Val1298Ile Single submitter ⚠
p.Val132Ala Single submitter ⚠
p.Val1758Leu Single submitter ⚠
p.Val1758Met Single submitter ⚠
p.Val1859Ala Single submitter ⚠
p.Val298Ala Single submitter ⚠
p.Val298Leu Single submitter ⚠
p.Val395Glu Single submitter ⚠
p.Val401Asp Single submitter ⚠
p.Val444Ile Single submitter ⚠
p.Val524Leu Single submitter ⚠
p.Val566Ile Single submitter ⚠
p.Val588Ala Single submitter ⚠
p.Val626Ile Single submitter ⚠
p.Val790Ala Single submitter ⚠
p.Val81Ile Single submitter ⚠