EMILIN3 — 148 ClinVar variants

All ClinVar germline EMILIN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

7 Likely benign · 141 Uncertain significance

Full EMILIN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 118

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

Predictors split 22

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

All EMILIN3 variants

Likely benign 7

p.Ala493Thr Single submitter
p.Ala555Thr Single submitter
p.Ala707= Single submitter
p.Arg543= Single submitter
p.Gln364Arg Single submitter
p.Leu613Ser Single submitter
p.Thr441Met Single submitter

Uncertain significance 141

p.Ala117Thr Single submitter ⚠
p.Ala12Asp Single submitter ⚠
p.Ala15Gly Single submitter ⚠
p.Ala167Asp Single submitter ⚠
p.Ala219Ser Single submitter ⚠
p.Ala221Val Single submitter ⚠
p.Ala298Asp Single submitter ⚠
p.Ala347Thr Single submitter ⚠
p.Ala499Ser Single submitter ⚠
p.Ala499Val Single submitter ⚠
p.Ala546Thr Single submitter ⚠
p.Ala573Pro Single submitter ⚠
p.Ala573Val Single submitter ⚠
p.Ala632Thr Single submitter ⚠
p.Ala707Val Single submitter ⚠
p.Ala765Thr Single submitter ⚠
p.Arg119Cys Single submitter ⚠
p.Arg119Gly Single submitter ⚠
p.Arg128His Single submitter ⚠
p.Arg173Lys Single submitter ⚠
p.Arg182Gln Single submitter ⚠
p.Arg182Trp Single submitter ⚠
p.Arg185Cys Single submitter ⚠
p.Arg192Cys Single submitter ⚠
p.Arg287Gln Single submitter ⚠
p.Arg287Trp Single submitter ⚠
p.Arg307Trp Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg333Trp Single submitter ⚠
p.Arg339Trp Single submitter ⚠
p.Arg358Gln Single submitter ⚠
p.Arg358Trp Single submitter ⚠
p.Arg38His Single submitter ⚠
p.Arg394His Single submitter ⚠
p.Arg394Pro Single submitter ⚠
p.Arg400Lys Single submitter ⚠
p.Arg473His Single submitter ⚠
p.Arg47His Single submitter ⚠
p.Arg480Gly Single submitter ⚠
p.Arg480His Single submitter ⚠
p.Arg480Ser Single submitter ⚠
p.Arg4Gly Single submitter ⚠
p.Arg500Gln Single submitter ⚠
p.Arg513Gln Single submitter ⚠
p.Arg543Gln Single submitter ⚠
p.Arg549Cys Single submitter Marfanoid habitus and intellectual disability ⚠
p.Arg624His Single submitter ⚠
p.Arg655Cys Single submitter ⚠
p.Arg655His Single submitter ⚠
p.Arg674Cys Single submitter ⚠
p.Arg692Gln Single submitter ⚠
p.Arg692Leu Single submitter ⚠
p.Arg692Trp Single submitter ⚠
p.Arg733Cys Single submitter ⚠
p.Arg733Gly Single submitter ⚠
p.Arg733His Single submitter ⚠
p.Arg744Cys Single submitter ⚠
p.Arg744His Single submitter ⚠
p.Arg746Gln Single submitter ⚠
p.Arg761Gln Single submitter ⚠
p.Arg84Gln Single submitter ⚠
p.Arg84Trp Single submitter ⚠
p.Arg99His Single submitter ⚠
p.Asn260Ser Single submitter ⚠
p.Asn443Ser Single submitter ⚠
p.Asn562Ser Single submitter ⚠
p.Asn66Ser Single submitter ⚠
p.Asp135Asn Single submitter ⚠
p.Asp155Asn Single submitter ⚠
p.Asp747His Single submitter ⚠
p.Gln353Glu Single submitter ⚠
p.Gln475Arg Single submitter ⚠
p.Gln759His Single submitter ⚠
p.Gln764Pro Single submitter ⚠
p.Glu250Lys Single submitter ⚠
p.Glu407Lys Single submitter ⚠
p.Glu419Lys Single submitter ⚠
p.Glu567Lys Single submitter ⚠
p.Glu629Lys Single submitter ⚠
p.Gly123Ser Single submitter ⚠
p.Gly157Asp Single submitter ⚠
p.Gly19Trp Single submitter ⚠
p.Gly344Asp Single submitter ⚠
p.Gly431Ser Single submitter ⚠
p.Gly434Trp Single submitter ⚠
p.Gly448Arg Single submitter ⚠
p.Gly459Ala Single submitter ⚠
p.Gly45Arg Single submitter ⚠
p.Gly647Asp Single submitter ⚠
p.Gly698Val Single submitter ⚠
p.Gly94Arg Single submitter ⚠
p.His171Gln Single submitter ⚠
p.Ile149Asn Single submitter ⚠
p.Leu283Val Single submitter ⚠
p.Leu355Phe Single submitter ⚠
p.Leu355Pro Single submitter ⚠
p.Leu390Ser Single submitter ⚠
p.Leu420Ile Single submitter ⚠
p.Leu533Val Single submitter ⚠
p.Leu619Val Single submitter ⚠
p.Leu718Val Single submitter ⚠
p.Leu724Pro Single submitter ⚠
p.Lys111Met Single submitter
p.Lys538Glu Single submitter ⚠
p.Lys56Asn Single submitter ⚠
p.Met427Thr Single submitter ⚠
p.Met427Val Single submitter ⚠
p.Met458Ile Single submitter ⚠
p.Met458Leu Single submitter ⚠
p.Phe319Leu Single submitter ⚠
p.Pro130Ser Single submitter ⚠
p.Pro161Ser Single submitter ⚠
p.Pro230Ala Single submitter ⚠
p.Pro48Arg Single submitter ⚠
p.Pro48Ser Single submitter ⚠
p.Pro523Ala Single submitter ⚠
p.Pro52Arg Single submitter ⚠
p.Pro54Ser Single submitter ⚠
p.Ser169Thr Single submitter ⚠
p.Ser314Arg Single submitter ⚠
p.Ser354Asn Single submitter ⚠
p.Ser354Gly Single submitter ⚠
p.Ser579Leu Single submitter ⚠
p.Thr245Ser Single submitter ⚠
p.Thr406Asn Single submitter ⚠
p.Thr421Arg Single submitter ⚠
p.Thr43Met Single submitter ⚠
p.Thr576Lys Single submitter ⚠
p.Thr617Met Single submitter ⚠
p.Tyr110His Single submitter ⚠
p.Tyr303Asn Single submitter ⚠
p.Tyr83His Single submitter ⚠
p.Val101Ile Single submitter ⚠
p.Val108Ala Single submitter ⚠
p.Val113Met Single submitter ⚠
p.Val224Met Single submitter ⚠
p.Val255Met Single submitter ⚠
p.Val266Leu Single submitter ⚠
p.Val432Met Single submitter ⚠
p.Val474Leu Single submitter ⚠
p.Val565Met Single submitter ⚠