DSEL — 149 ClinVar variants

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

1 Benign · 9 Likely benign · 139 Uncertain significance

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

All DSEL variants

Benign 1

p.Pro942Ser Multiple submitters

Likely benign 9

p.Tyr730Cys Multiple submitters
p.Ala253Val Single submitter
p.Ala977Thr Single submitter
p.Arg193= Single submitter
p.Arg565Lys Single submitter
p.Arg912His Single submitter
p.Ile764Val Single submitter
p.Met850Val Single submitter
p.Val287Ile Single submitter

Uncertain significance 139

c.-1C>G Single submitter
p.Ala1110Val Single submitter
p.Ala178Thr Single submitter
p.Ala236Thr Single submitter
p.Ala278Thr Single submitter
p.Ala2Thr Single submitter
p.Ala330fs Single submitter
p.Ala356Thr Single submitter
p.Ala523Val Single submitter
p.Ala74Thr Single submitter
p.Ala775Val Single submitter
p.Arg1034Trp Single submitter
p.Arg1188Gly Single submitter
p.Arg1204His Single submitter
p.Arg151Ser Single submitter
p.Arg214Cys Single submitter
p.Arg214His Single submitter
p.Arg296Cys Single submitter
p.Arg296His Single submitter
p.Arg443Gln Single submitter
p.Arg571Cys Single submitter
p.Arg571His Single submitter
p.Arg589Ser Single submitter
p.Arg747Gln Single submitter
p.Arg792His Single submitter
p.Arg802Gln Single submitter
p.Arg912Cys Single submitter
p.Arg912Leu Single submitter
p.Arg917His Single submitter
p.Arg999Cys Single submitter
p.Asn1164His Single submitter
p.Asn354Thr Single submitter
p.Asn426Asp Single submitter
p.Asn464Lys Single submitter
p.Asn480His Single submitter
p.Asn480Ser Single submitter
p.Asn53Ser Single submitter
p.Asn666Asp Single submitter
p.Asn688Ser Single submitter
p.Asp1189Gly Single submitter
p.Asp150Asn Single submitter
p.Asp256Val Single submitter
p.Asp37Gly Single submitter
p.Asp38Val Single submitter
p.Asp535Gly Single submitter
p.Asp626Gly Single submitter
p.Asp854Gly Single submitter
p.Asp910Asn Single submitter
p.Gln1017Arg Single submitter
p.Gln472Glu Single submitter
p.Gln825Arg Single submitter
p.Glu1065Ala Single submitter
p.Glu1082Ala Single submitter
p.Glu1087Lys Single submitter
p.Glu71Lys Single submitter
p.Gly217Val Single submitter
p.Gly416Cys Single submitter
p.Gly534Arg Single submitter
p.Gly743Val Single submitter
p.Gly751Val Single submitter
p.Gly777Val Single submitter
p.His110Leu Single submitter
p.His110Tyr Single submitter
p.His1132Tyr Single submitter
p.His311Asp Single submitter
p.His639Asn Single submitter
p.His8Asn Single submitter
p.His915Arg Single submitter
p.His991Gln Single submitter
p.Ile1147Val Single submitter
p.Ile249Thr Single submitter
p.Ile448Met Single submitter
p.Ile540Val Single submitter
p.Ile675Asn Single submitter
p.Ile717Val Single submitter
p.Ile755Val Single submitter
p.Ile786Phe Single submitter
p.Leu396Val Single submitter
p.Leu494Phe Single submitter
p.Leu780Phe Single submitter
p.Leu871His Single submitter
p.Lys212Glu Single submitter
p.Lys370Glu Single submitter
p.Lys436Arg Single submitter
p.Lys436Thr Single submitter
p.Lys493Gln Single submitter
p.Lys513Arg Single submitter
p.Lys55Thr Single submitter
p.Lys567Arg Single submitter
p.Met1040Val Single submitter
p.Met1202Arg Single submitter
p.Met1211Arg Single submitter
p.Met16Ile Single submitter
p.Met262Val Single submitter
p.Met564Val Single submitter
p.Met60Leu Single submitter
p.Met624Val Single submitter
p.Met75Leu Single submitter
p.Phe42Tyr Single submitter
p.Phe669Leu Single submitter
p.Pro1083Leu Single submitter
p.Pro108Ala Single submitter
p.Pro1119Ala Single submitter
p.Pro1187Thr Single submitter
p.Pro492Ala Single submitter
p.Pro507Leu Single submitter
p.Pro968Leu Single submitter
p.Pro968Ser Single submitter
p.Ser1023Pro Single submitter
p.Ser1153Gly Single submitter
p.Ser474Ala Single submitter
p.Ser568Arg Single submitter
p.Ser599Thr Single submitter
p.Ser643Asn Single submitter
p.Ser64Gly Single submitter
p.Ser690Phe Single submitter
p.Ser697Thr Single submitter
p.Ser899Leu Single submitter
p.Ser909Leu Single submitter
p.Ser997Gly Single submitter
p.Thr21Ala Single submitter
p.Thr227Ile Single submitter
p.Thr326Ala Single submitter
p.Thr930Ile Single submitter
p.Trp201Arg Single submitter
p.Trp313Ser Single submitter
p.Tyr1081Cys Single submitter
p.Tyr282Cys Single submitter
p.Tyr490Cys Single submitter
p.Tyr614Cys Single submitter
p.Tyr620Cys Single submitter
p.Tyr995Cys Single submitter
p.Val168Ile Single submitter
p.Val257Ile Single submitter
p.Val375Ile Single submitter
p.Val557Met Single submitter
p.Val598Leu Single submitter
p.Val715Phe Single submitter
p.Val883Ile Single submitter