EMILIN2 — 240 ClinVar variants

All ClinVar germline EMILIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →

14 Benign · 1 Benign/Likely benign · 29 Likely benign · 196 Uncertain significance

Full EMILIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 202

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 127

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

Predictors split 75

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

All EMILIN2 variants

Benign 14

p.Ala215Thr Multiple submitters
p.Ala455= Multiple submitters
p.Cys1002= Multiple submitters
p.Lys347= Multiple submitters
p.Met259Val Multiple submitters
p.Pro136Ser Multiple submitters
p.Pro657= Multiple submitters
p.Pro854= Multiple submitters
p.Pro893Leu Multiple submitters
p.Ser1039= Multiple submitters
p.Thr243Lys Multiple submitters
c.2360-11_2376del Single submitter
p.Ile416= Single submitter
p.Thr197= Single submitter

Benign/Likely benign 1

p.Gly843= Multiple submitters

Likely benign 29

p.Arg386Gln Single submitter
p.Arg534Gln Single submitter
p.Arg574His Single submitter
p.Arg6Gln Single submitter ⚠
p.Arg749= Single submitter
p.Arg834Gly Single submitter
p.Asp145= Single submitter
p.Asp323= Single submitter
p.Asp356= Single submitter
p.Asp963= Single submitter
p.Gln231= Single submitter
p.Gln693His Single submitter ⚠
p.Gln850Glu Single submitter
p.Gln871His Single submitter
p.Gly1043= Single submitter
p.Gly477= Single submitter
p.Ile557Phe Single submitter
p.Leu412= Single submitter
p.Leu516Phe Single submitter ⚠
p.Pro827= Single submitter
p.Pro901= Single submitter
p.Ser976= Single submitter
p.Thr692Met Single submitter
p.Thr747= Single submitter
p.Thr848= Single submitter
p.Tyr948His Single submitter
p.Val1022Ile Single submitter ⚠
p.Val663Met Single submitter ⚠
p.Val877Ile Single submitter ⚠

Uncertain significance 196

p.Ala1007Val Single submitter ⚠
p.Ala16Glu Single submitter ⚠
p.Ala324Pro Single submitter ⚠
p.Ala324Thr Single submitter ⚠
p.Ala392Pro Single submitter ⚠
p.Ala70Val Single submitter ⚠
p.Ala815Thr Single submitter ⚠
p.Ala84Thr Single submitter ⚠
p.Ala855Thr Single submitter ⚠
p.Ala857Val Single submitter ⚠
p.Ala884Thr Single submitter ⚠
p.Ala884Val Single submitter ⚠
p.Ala900Ser Single submitter ⚠
p.Ala910Val Single submitter ⚠
p.Ala956Val Single submitter ⚠
p.Ala983Thr Single submitter ⚠
p.Arg130Cys Single submitter ⚠
p.Arg137Gln Single submitter ⚠
p.Arg193Gln Single submitter ⚠
p.Arg377Thr Single submitter ⚠
p.Arg39Trp Single submitter ⚠
p.Arg436Cys Single submitter ⚠
p.Arg436His Single submitter ⚠
p.Arg43Lys Single submitter ⚠
p.Arg476Leu Single submitter ⚠
p.Arg500Ser Single submitter ⚠
p.Arg534Trp Single submitter ⚠
p.Arg829Trp Single submitter ⚠
p.Arg862Gln Single submitter ⚠
p.Arg951Cys Single submitter ⚠
p.Arg951Pro Single submitter ⚠
p.Arg962Lys Single submitter ⚠
p.Arg994His Single submitter ⚠
p.Asn1021Ser Single submitter ⚠
p.Asn138Ser Single submitter ⚠
p.Asn146Ser Single submitter ⚠
p.Asn382Lys Single submitter ⚠
p.Asn382Ser Single submitter ⚠
p.Asn511Asp Single submitter ⚠
p.Asn570Lys Single submitter ⚠
p.Asn587Lys Single submitter ⚠
p.Asn631Ser Single submitter ⚠
p.Asn731Ser Single submitter ⚠
p.Asn73Asp Single submitter ⚠
p.Asn73Ser Single submitter ⚠
p.Asp145Gly Single submitter ⚠
p.Asp200His Single submitter ⚠
p.Asp284Asn Single submitter ⚠
p.Asp323Gly Single submitter ⚠
p.Asp356Gly Single submitter ⚠
p.Asp398Asn Single submitter ⚠
p.Asp435Tyr Single submitter ⚠
p.Asp491Asn Single submitter ⚠
p.Asp621Tyr Single submitter ⚠
p.Asp819Glu Single submitter ⚠
p.Asp819His Single submitter ⚠
p.Cys344Arg Single submitter ⚠
p.Cys355Tyr Single submitter ⚠
p.Cys553Phe Single submitter ⚠
p.Cys632Ser Single submitter ⚠
p.Cys691Arg Single submitter ⚠
p.Gln165Lys Single submitter ⚠
p.Gln495Arg Single submitter ⚠
p.Gln495Lys Single submitter ⚠
p.Gln507Pro Single submitter ⚠
p.Gln606His Single submitter ⚠
p.Gln837Lys Single submitter ⚠
p.Glu106Ala Single submitter ⚠
p.Glu210Gly Single submitter ⚠
p.Glu291Lys Single submitter ⚠
p.Glu299Lys Single submitter ⚠
p.Glu312Lys Single submitter ⚠
p.Glu466Asp Single submitter ⚠
p.Glu62Asp Single submitter ⚠
p.Glu648Asp Single submitter ⚠
p.Glu805Lys Single submitter ⚠
p.Glu833Gly Single submitter ⚠
p.Glu881Asp Single submitter ⚠
p.Glu881Gly Single submitter ⚠
p.Glu991Lys Single submitter ⚠
p.Gly1003Arg Single submitter ⚠
p.Gly115Trp Single submitter ⚠
p.Gly175Glu Single submitter ⚠
p.Gly246Asp Single submitter ⚠
p.Gly24Val Single submitter ⚠
p.Gly26Glu Single submitter ⚠
p.Gly285Arg Single submitter ⚠
p.Gly359Arg Single submitter ⚠
p.Gly35Ala Single submitter ⚠
p.Gly364Arg Single submitter ⚠
p.Gly526Arg Single submitter ⚠
p.Gly563Arg Single submitter ⚠
p.Gly63Arg Single submitter ⚠
p.Gly704Asp Single submitter ⚠
p.Gly746Ala Single submitter ⚠
p.Gly746Glu Single submitter ⚠
p.Gly852Arg Single submitter ⚠
p.Gly863Arg Single submitter ⚠
p.Gly863Asp Single submitter ⚠
p.Gly867Ala Single submitter ⚠
p.Gly870Arg Single submitter ⚠
p.Gly870Ser Single submitter ⚠
p.Gly879Arg Single submitter ⚠
p.Gly879Asp Single submitter ⚠
p.Gly885Asp Single submitter ⚠
p.Gly950Arg Single submitter ⚠
p.Gly997Glu Single submitter ⚠
p.His1052Arg Single submitter ⚠
p.His232Gln Single submitter ⚠
p.His581Tyr Single submitter ⚠
p.His617Arg Single submitter ⚠
p.His624Tyr Single submitter ⚠
p.Ile369Thr Single submitter ⚠
p.Ile380Thr Single submitter ⚠
p.Leu555Pro Single submitter ⚠
p.Leu582Phe Single submitter ⚠
p.Leu802Arg Single submitter ⚠
p.Lys127Arg Single submitter ⚠
p.Lys645Asn Single submitter ⚠
p.Met1037Leu Single submitter ⚠
p.Met330Ile Single submitter ⚠
p.Met537Thr Single submitter ⚠
p.Phe1041Cys Single submitter ⚠
p.Phe765Leu Single submitter ⚠
p.Pro111Leu Single submitter ⚠
p.Pro12Leu Single submitter ⚠
p.Pro148Arg Single submitter ⚠
p.Pro176Leu Single submitter ⚠
p.Pro176Ser Single submitter ⚠
p.Pro249Leu Single submitter ⚠
p.Pro304Leu Single submitter ⚠
p.Pro390Ser Single submitter ⚠
p.Pro440Thr Single submitter ⚠
p.Pro4Ser Single submitter ⚠
p.Pro561Leu Single submitter ⚠
p.Pro569Ser Single submitter ⚠
p.Pro662Ser Single submitter ⚠
p.Pro784Ser Single submitter ⚠
p.Pro791Ser Single submitter ⚠
p.Pro792Ala Single submitter ⚠
p.Pro801Ala Single submitter ⚠
p.Pro801Leu Single submitter ⚠
p.Pro804Ala Single submitter ⚠
p.Pro808Arg Single submitter ⚠
p.Pro827Leu Single submitter ⚠
p.Pro830Arg Single submitter ⚠
p.Pro831Ala Single submitter ⚠
p.Pro836Leu Single submitter ⚠
p.Pro838Ser Single submitter ⚠
p.Pro890Leu Single submitter ⚠
p.Ser1042Thr Single submitter ⚠
p.Ser203Phe Single submitter ⚠
p.Ser360Asn Single submitter ⚠
p.Ser585Pro Single submitter ⚠
p.Ser613Phe Single submitter ⚠
p.Ser700Phe Single submitter ⚠
p.Ser718Phe Single submitter ⚠
p.Ser735Arg Single submitter ⚠
p.Ser812Arg Single submitter ⚠
p.Ser860Cys Single submitter ⚠
p.Ser874Arg Single submitter ⚠
p.Ser919Gly Single submitter ⚠
p.Thr132Ala Single submitter ⚠
p.Thr144Pro Single submitter ⚠
p.Thr197Ser Single submitter ⚠
p.Thr245Met Single submitter ⚠
p.Thr305Met Single submitter ⚠
p.Thr374Ser Single submitter ⚠
p.Thr460Met Single submitter ⚠
p.Thr509Ile Single submitter ⚠
p.Thr712Ile Single submitter ⚠
p.Thr747Met Single submitter ⚠
p.Thr816Ser Single submitter ⚠
p.Thr842Ile Single submitter ⚠
p.Thr876Ile Single submitter ⚠
p.Thr941Ile Single submitter ⚠
p.Trp674Gly Single submitter ⚠
p.Tyr1047His Single submitter ⚠
p.Tyr1047Phe Single submitter ⚠
p.Tyr317Cys Single submitter ⚠
p.Tyr36Phe Single submitter ⚠
p.Tyr889Cys Single submitter ⚠
p.Val1012Met Single submitter ⚠
p.Val191Phe Single submitter ⚠
p.Val269Ile Single submitter ⚠
p.Val439Phe Single submitter ⚠
p.Val548Ala Single submitter ⚠
p.Val702Met Single submitter ⚠
p.Val769Ile Single submitter ⚠
p.Val868Gly Single submitter ⚠
p.Val868Met Single submitter ⚠
p.Val902Leu Single submitter ⚠
p.Val924Ile Single submitter ⚠
p.Val966Met Single submitter ⚠
p.Val972Ile Single submitter ⚠
p.Val977Met Single submitter ⚠