CATSPERG — 169 ClinVar variants

All ClinVar germline CATSPERG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

12 Likely benign · 157 Uncertain significance

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

⚑ Evidence disagreements 157

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 101

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

Predictors split 56

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

All CATSPERG variants

Likely benign 12

p.Ala476Val Single submitter
p.Arg1130Thr Single submitter
p.Arg1141Lys Single submitter
p.Arg378Thr Single submitter
p.Arg525His Single submitter
p.Gln381Arg Single submitter
p.Glu965Lys Single submitter
p.Gly1122Arg Single submitter
p.Leu445Val Single submitter
p.Met80Leu Single submitter
p.Val1094Met Single submitter
p.Val606Met Single submitter

Uncertain significance 157

p.Ala1014Thr Single submitter ⚠
p.Ala1066Val Single submitter ⚠
p.Ala1086Thr Single submitter ⚠
p.Ala1118Thr Single submitter ⚠
p.Ala362Val Single submitter ⚠
p.Ala411Ser Single submitter ⚠
p.Ala411Thr Single submitter ⚠
p.Arg1065Gln Single submitter ⚠
p.Arg1102Trp Single submitter ⚠
p.Arg1141Ser Single submitter ⚠
p.Arg138Cys Single submitter ⚠
p.Arg154Cys Single submitter ⚠
p.Arg154His Single submitter ⚠
p.Arg183Cys Single submitter ⚠
p.Arg183His Single submitter ⚠
p.Arg199Ser Single submitter ⚠
p.Arg212Trp Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg330Ser Single submitter ⚠
p.Arg430Cys Single submitter ⚠
p.Arg546Trp Single submitter ⚠
p.Arg659Leu Single submitter ⚠
p.Arg757His Single submitter ⚠
p.Arg887His Single submitter ⚠
p.Arg922Trp Single submitter ⚠
p.Arg970Cys Single submitter ⚠
p.Arg970His Single submitter ⚠
p.Asn102Ser Single submitter ⚠
p.Asn203Ser Single submitter ⚠
p.Asn312Ile Single submitter ⚠
p.Asn574Ser Single submitter ⚠
p.Asn595Thr Single submitter ⚠
p.Asn675Lys Single submitter ⚠
p.Asn714His Single submitter ⚠
p.Asn747Ser Single submitter ⚠
p.Asn979Tyr Single submitter ⚠
p.Asp1145Glu Single submitter ⚠
p.Asp245Asn Single submitter ⚠
p.Asp245Gly Single submitter ⚠
p.Asp740Asn Single submitter ⚠
p.Gln1156Leu Single submitter ⚠
p.Gln147Glu Single submitter ⚠
p.Gln147His Single submitter ⚠
p.Gln597Glu Single submitter ⚠
p.Gln652Arg Single submitter ⚠
p.Gln782Leu Single submitter ⚠
p.Glu107Lys Single submitter ⚠
p.Glu1154Gly Single submitter ⚠
p.Glu142Asp Single submitter ⚠
p.Glu304Asp Single submitter ⚠
p.Glu342Lys Single submitter ⚠
p.Glu451Gln Single submitter ⚠
p.Glu460Gln Single submitter ⚠
p.Glu575Lys Single submitter ⚠
p.Glu749Gly Single submitter ⚠
p.Glu967Lys Single submitter ⚠
p.Gly1039Arg Single submitter ⚠
p.Gly1079Ala Single submitter ⚠
p.Gly121Glu Single submitter ⚠
p.Gly331Ser Single submitter ⚠
p.Gly370Asp Single submitter ⚠
p.Gly479Ala Single submitter ⚠
p.Gly543Arg Single submitter ⚠
p.Gly734Ser Single submitter ⚠
p.Gly838Ser Single submitter ⚠
p.Gly881Ser Single submitter ⚠
p.Gly940Ser Single submitter ⚠
p.His353Arg Single submitter ⚠
p.His373Pro Single submitter ⚠
p.His792Arg Single submitter ⚠
p.His792Asn Single submitter ⚠
p.Ile1056Val Single submitter ⚠
p.Ile175Val Single submitter ⚠
p.Ile998Val Single submitter ⚠
p.Leu1089Phe Single submitter ⚠
p.Leu113Gln Single submitter ⚠
p.Leu227Val Single submitter ⚠
p.Leu30Pro Single submitter ⚠
p.Leu363Phe Single submitter ⚠
p.Leu541Pro Single submitter ⚠
p.Leu612Met Single submitter ⚠
p.Leu816Pro Single submitter ⚠
p.Lys502Arg Single submitter ⚠
p.Lys554Glu Single submitter ⚠
p.Lys762Thr Single submitter ⚠
p.Lys902Glu Single submitter ⚠
p.Met1126Arg Single submitter ⚠
p.Met1126Thr Single submitter ⚠
p.Met1158Leu Single submitter ⚠
p.Met167Leu Single submitter ⚠
p.Met173Thr Single submitter ⚠
p.Met463Val Single submitter ⚠
p.Met613Thr Single submitter ⚠
p.Met6Val Single submitter ⚠
p.Met875Leu Single submitter ⚠
p.Phe1052Leu Single submitter ⚠
p.Phe1068Leu Single submitter ⚠
p.Phe1077Leu Single submitter ⚠
p.Phe136Ile Single submitter ⚠
p.Phe136Tyr Single submitter ⚠
p.Phe673Leu Single submitter ⚠
p.Phe723Tyr Single submitter ⚠
p.Phe789Leu Single submitter ⚠
p.Pro152Arg Single submitter ⚠
p.Pro484Leu Single submitter ⚠
p.Pro665Leu Single submitter ⚠
p.Pro699Arg Single submitter ⚠
p.Pro85Ser Single submitter ⚠
p.Pro868Thr Single submitter ⚠
p.Pro88Ser Single submitter ⚠
p.Pro914Ala Single submitter ⚠
p.Pro955His Single submitter ⚠
p.Ser104Tyr Single submitter ⚠
p.Ser1073Pro Single submitter ⚠
p.Ser1075Arg Single submitter ⚠
p.Ser1124Leu Single submitter ⚠
p.Ser1140Pro Single submitter ⚠
p.Ser236Leu Single submitter ⚠
p.Ser272Cys Single submitter ⚠
p.Ser280Cys Single submitter ⚠
p.Ser32Leu Single submitter ⚠
p.Ser332Cys Single submitter ⚠
p.Ser516Phe Single submitter ⚠
p.Ser523Thr Single submitter ⚠
p.Ser678Leu Single submitter ⚠
p.Ser778Trp Single submitter ⚠
p.Thr1042Met Single submitter ⚠
p.Thr1099Arg Single submitter ⚠
p.Thr1099Met Single submitter ⚠
p.Thr120Met Single submitter ⚠
p.Thr243Ala Single submitter ⚠
p.Thr321Ile Single submitter ⚠
p.Thr323Ala Single submitter ⚠
p.Thr364Ile Single submitter ⚠
p.Thr364Ser Single submitter ⚠
p.Thr365Met Single submitter ⚠
p.Thr376Ala Single submitter ⚠
p.Thr400Ser Single submitter ⚠
p.Thr534Met Single submitter ⚠
p.Thr708Asn Single submitter ⚠
p.Thr781Lys Single submitter ⚠
p.Thr827Met Single submitter ⚠
p.Thr893Pro Single submitter ⚠
p.Trp139Cys Single submitter ⚠
p.Trp538Arg Single submitter ⚠
p.Tyr137Cys Single submitter ⚠
p.Tyr621Cys Single submitter ⚠
p.Tyr682His Single submitter ⚠
p.Val114Leu Single submitter ⚠
p.Val1153Met Single submitter ⚠
p.Val382Met Single submitter ⚠
p.Val420Leu Single submitter ⚠
p.Val547Ala Single submitter ⚠
p.Val602Phe Single submitter ⚠
p.Val851Asp Single submitter ⚠
p.Val878Gly Single submitter ⚠
p.Val910Ile Single submitter ⚠