ECPAS — 192 ClinVar variants

All ClinVar germline ECPAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

8 Likely benign · 184 Uncertain significance

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

All ECPAS variants

Likely benign 8

c.-149G>A Single submitter
c.-83+130A>C Single submitter
c.-83+36C>T Single submitter
p.Ala1701Val Single submitter
p.Ala598= Single submitter
p.Asn1603Ser Single submitter
p.Asn639Ser Single submitter
p.Ser675= Single submitter

Uncertain significance 184

c.-128G>A Single submitter
c.-128G>C Single submitter
c.-138C>T Single submitter
c.-150C>T Single submitter
c.-152C>T Single submitter
c.-176C>G Single submitter
c.-186C>T Single submitter
c.-200C>T Single submitter
c.-210G>C Single submitter
c.-323C>A Single submitter
c.-330G>C Single submitter
c.-350G>C Single submitter
c.-83+102G>A Single submitter
c.-83+105G>A Single submitter
c.-83+116G>T Single submitter
c.-83+125G>A Single submitter
c.-83+29G>C Single submitter
c.-83+35C>T Single submitter
c.-83+42C>T Single submitter
c.-83+48G>A Single submitter
c.-83+56G>A Single submitter
c.-83+60G>T Single submitter
c.-83+69G>A Single submitter
c.-83+80C>G Single submitter
c.-89G>A Single submitter
c.-95G>A Single submitter
c.-98A>T Single submitter
p.Ala1095Ser Single submitter
p.Ala1287Val Single submitter
p.Ala1313Val Single submitter
p.Ala1398Val Single submitter
p.Ala1454Thr Single submitter
p.Ala1472Glu Single submitter
p.Ala1566Thr Single submitter
p.Ala1814Val Single submitter
p.Ala1829Val Single submitter
p.Ala219Val Single submitter
p.Ala291Thr Single submitter
p.Ala433Thr Single submitter
p.Ala463Val Single submitter
p.Ala617Asp Single submitter
p.Ala673Thr Single submitter
p.Ala682Val Single submitter
p.Ala807Val Single submitter
p.Ala885Thr Single submitter
p.Ala897Val Single submitter
p.Ala913Gly Single submitter
p.Arg1205Lys Single submitter
p.Arg1215Gln Single submitter
p.Arg1312Trp Single submitter
p.Arg1423Gln Single submitter
p.Arg1667Trp Single submitter
p.Arg1718Trp Single submitter
p.Arg189Gly Single submitter
p.Arg491Gln Single submitter
p.Arg521Cys Single submitter
p.Arg62His Single submitter
p.Arg66Cys Single submitter
p.Asn227Lys Single submitter
p.Asp1387Asn Single submitter
p.Asp1405Gly Single submitter
p.Asp431Asn Single submitter
p.Asp797Ala Single submitter
p.Cys1229Tyr Single submitter
p.Gln608His Single submitter
p.Gln70Glu Single submitter
p.Gln877Glu Single submitter
p.Glu1493Lys Single submitter
p.Glu1580Asp Single submitter
p.Glu1617Lys Single submitter
p.Glu1621Gly Single submitter
p.Glu1674Asp Single submitter
p.Glu1745Gln Single submitter
p.Glu1836Gly Single submitter
p.Glu853Gly Single submitter
p.Gly1665Arg Single submitter
p.Gly204Arg Single submitter
p.Gly631Arg Single submitter
p.Gly662Arg Single submitter
p.His1034Pro Single submitter
p.His1484Tyr Single submitter
p.His738Arg Single submitter
p.His944Arg Single submitter
p.His951Arg Single submitter
p.Ile1338Val Single submitter
p.Ile1460Val Single submitter
p.Ile1525Val Single submitter
p.Ile1653Val Single submitter
p.Ile241Val Single submitter
p.Ile285Leu Single submitter
p.Ile304Thr Single submitter
p.Ile378Val Single submitter
p.Ile432Val Single submitter
p.Ile453Val Single submitter
p.Ile651Thr Single submitter
p.Leu1161Val Single submitter
p.Leu1196Arg Single submitter
p.Leu1560Pro Single submitter
p.Leu771Val Single submitter
p.Lys1030Glu Single submitter
p.Lys123Arg Single submitter
p.Lys1255Arg Single submitter
p.Lys1255Thr Single submitter
p.Lys1330Arg Single submitter
p.Lys1450Glu Single submitter
p.Lys1772Arg Single submitter
p.Lys298Arg Single submitter
p.Lys404Gln Single submitter
p.Lys444Gln Single submitter
p.Lys735Glu Single submitter
p.Met1027Leu Single submitter
p.Met1027Thr Single submitter
p.Met1088Val Single submitter
p.Met1232Leu Single submitter
p.Met1258Arg Single submitter
p.Met1282Ile Single submitter
p.Met142Leu Single submitter
p.Met1483Thr Single submitter
p.Met1545Thr Single submitter
p.Met1545Val Single submitter
p.Met1816Leu Single submitter
p.Met215Val Single submitter
p.Met573Val Single submitter
p.Met595Thr Single submitter
p.Met765Thr Single submitter
p.Met851Val Single submitter
p.Phe1648Leu Single submitter
p.Phe372Ser Single submitter
p.Pro1235Ala Single submitter
p.Pro1285Ala Single submitter
p.Pro1390Arg Single submitter
p.Pro1751Leu Single submitter
p.Pro211Ser Single submitter
p.Pro213Leu Single submitter
p.Pro387Ser Single submitter
p.Pro605Leu Single submitter
p.Pro819Ala Single submitter
p.Pro819Leu Single submitter
p.Pro843Leu Single submitter
p.Pro863Thr Single submitter
p.Pro923Ser Single submitter
p.Ser1259Asn Single submitter
p.Ser1534Phe Single submitter
p.Ser1664Asn Single submitter
p.Ser188Gly Single submitter
p.Ser264Asn Single submitter
p.Ser600Gly Single submitter
p.Ser636Leu Single submitter
p.Ser699Cys Single submitter
p.Ser699Gly Single submitter
p.Ser739Ile Single submitter
p.Ser827Cys Single submitter
p.Ser947Gly Single submitter
p.Thr1059Ile Single submitter
p.Thr1202Met Single submitter
p.Thr1262Met Single submitter
p.Thr138Ile Single submitter
p.Thr1451Asn Single submitter
p.Thr1451Ile Single submitter
p.Thr1501Asn Single submitter
p.Thr1575Met Single submitter
p.Thr1773Ile Single submitter
p.Thr230Ala Single submitter
p.Thr272Met Single submitter
p.Thr344Met Single submitter
p.Thr644Asn Single submitter
p.Thr689Ala Single submitter
p.Thr753Met Single submitter
p.Thr789Ala Single submitter
p.Thr799Ala Single submitter
p.Thr917Ala Single submitter
p.Tyr921Cys Single submitter
p.Val1006Ile Single submitter
p.Val1042Leu Single submitter
p.Val1214Leu Single submitter
p.Val1508Ile Single submitter
p.Val1508Leu Single submitter
p.Val1726Glu Single submitter
p.Val313Leu Single submitter
p.Val313Phe Single submitter
p.Val323Ile Single submitter
p.Val495Leu Single submitter
p.Val52Ile Single submitter
p.Val952Met Single submitter