COL20A1 — 289 ClinVar variants

All ClinVar germline COL20A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →

1 Conflicting · 2 Benign · 28 Likely benign · 258 Uncertain significance

Full COL20A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 263

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

COL20A1 p.Ser504Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 117

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

Predictors split 145

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

All COL20A1 variants

Conflicting classifications of pathogenicity 1

p.Ser504Ala Single submitter ⚠

Benign 2

p.Thr141= Multiple submitters
p.Thr288= Single submitter

Likely benign 28

c.1394-8C>A Single submitter
p.Ala1025Thr Single submitter
p.Ala178Val Single submitter
p.Ala19Thr Single submitter
p.Ala477Thr Single submitter ⚠
p.Ala572Thr Single submitter
p.Ala955Val Single submitter
p.Arg247His Single submitter ⚠
p.Arg402Gln Single submitter
p.Arg459Gln Single submitter
p.Arg518Gln Single submitter
p.Arg548Gln Single submitter
p.Arg979His Single submitter ⚠
p.Asp289= Single submitter
p.Asp755Asn Single submitter
p.Gln271Glu Single submitter ⚠
p.Gly1254Ser Single submitter
p.Gly130Ser Single submitter
p.Gly4Arg Single submitter
p.Gly838Ser Single submitter
p.Leu339Gln Single submitter
p.Pro175= Single submitter
p.Pro959Leu Single submitter
p.Thr1009Met Single submitter
p.Val310Ile Single submitter
p.Val483Ile Single submitter
p.Val715Ile Single submitter
p.Val890Ile Single submitter

Uncertain significance 258

p.Ala1059Pro Single submitter ⚠
p.Ala1063Thr Single submitter ⚠
p.Ala1244Ser Single submitter ⚠
p.Ala1265Thr Single submitter ⚠
p.Ala274Thr Single submitter ⚠
p.Ala300Thr Single submitter ⚠
p.Ala312Thr Single submitter ⚠
p.Ala318Thr Single submitter ⚠
p.Ala35Pro Single submitter ⚠
p.Ala370Val Single submitter ⚠
p.Ala373Val Single submitter ⚠
p.Ala400Thr Single submitter ⚠
p.Ala400Val Single submitter ⚠
p.Ala429Thr Single submitter ⚠
p.Ala503Thr Single submitter ⚠
p.Ala580Val Single submitter ⚠
p.Ala670Thr Single submitter ⚠
p.Ala7Val Single submitter ⚠
p.Ala817Ser Single submitter ⚠
p.Ala917Thr Single submitter ⚠
p.Ala923Thr Single submitter ⚠
p.Ala936Val Single submitter ⚠
p.Ala992Ser Single submitter ⚠
p.Arg1020Gln Single submitter ⚠
p.Arg1020Trp Single submitter ⚠
p.Arg103Cys Single submitter ⚠
p.Arg103Pro Single submitter ⚠
p.Arg1044Gln Single submitter ⚠
p.Arg1044Trp Single submitter ⚠
p.Arg108Trp Single submitter ⚠
p.Arg1137Lys Single submitter ⚠
p.Arg1218Gly Single submitter ⚠
p.Arg163Cys Single submitter ⚠
p.Arg248Cys Single submitter ⚠
p.Arg250His Single submitter ⚠
p.Arg277Cys Single submitter ⚠
p.Arg301Cys Single submitter ⚠
p.Arg365Gln Single submitter ⚠
p.Arg394Leu Single submitter ⚠
p.Arg412Gln Single submitter ⚠
p.Arg41Trp Single submitter ⚠
p.Arg439Cys Single submitter ⚠
p.Arg439His Single submitter ⚠
p.Arg439Leu Single submitter ⚠
p.Arg459Trp Single submitter ⚠
p.Arg471Trp Single submitter ⚠
p.Arg499Gln Single submitter ⚠
p.Arg512Gln Single submitter ⚠
p.Arg548Trp Single submitter ⚠
p.Arg551Cys Single submitter ⚠
p.Arg551Gly Single submitter ⚠
p.Arg585Cys Single submitter ⚠
p.Arg625Gly Single submitter ⚠
p.Arg641Trp Single submitter ⚠
p.Arg726Cys Single submitter ⚠
p.Arg726His Single submitter ⚠
p.Arg733Cys Single submitter ⚠
p.Arg835Cys Single submitter ⚠
p.Arg860Gln Single submitter ⚠
p.Arg860Trp Single submitter ⚠
p.Arg906His Single submitter ⚠
p.Arg913His Single submitter ⚠
p.Arg946Cys Single submitter ⚠
p.Arg949Lys Single submitter ⚠
p.Arg979Cys Single submitter ⚠
p.Arg994Gln Single submitter ⚠
p.Asn435Ser Single submitter ⚠
p.Asp1041Asn Single submitter ⚠
p.Asp1043Tyr Single submitter ⚠
p.Asp1109Asn Single submitter ⚠
p.Asp122His Single submitter ⚠
p.Asp232Glu Single submitter ⚠
p.Asp289Asn Single submitter ⚠
p.Asp289Gly Single submitter ⚠
p.Asp755Gly Single submitter ⚠
p.Asp800His Single submitter ⚠
p.Asp958Asn Single submitter ⚠
p.Cys356Trp Single submitter ⚠
p.Cys500Tyr Single submitter ⚠
p.Gln1092Arg Single submitter ⚠
p.Gln228Glu Single submitter ⚠
p.Gln25Glu Single submitter ⚠
p.Gln387Arg Single submitter ⚠
p.Gln515His Single submitter ⚠
p.Gln515Leu Single submitter ⚠
p.Gln537His Single submitter ⚠
p.Gln882Pro Single submitter ⚠
p.Glu1091Lys Single submitter ⚠
p.Glu110Ala Single submitter ⚠
p.Glu425Gly Single submitter ⚠
p.Glu511Asp Single submitter ⚠
p.Glu546Lys Single submitter ⚠
p.Glu595Asp Single submitter ⚠
p.Glu752Asp Single submitter ⚠
p.Glu954Ala Single submitter ⚠
p.Glu993Gly Single submitter ⚠
p.Gly1000Ser Single submitter ⚠
p.Gly1006Ser Single submitter ⚠
p.Gly1018Cys Single submitter ⚠
p.Gly102Arg Single submitter ⚠
p.Gly1081Asp Single submitter ⚠
p.Gly1093Val Single submitter ⚠
p.Gly1099Cys Single submitter ⚠
p.Gly1111Arg Single submitter ⚠
p.Gly1123Asp Single submitter ⚠
p.Gly1165Glu Single submitter ⚠
p.Gly1236Ala Single submitter ⚠
p.Gly1236Arg Single submitter ⚠
p.Gly1251Trp Single submitter ⚠
p.Gly1281Ser Single submitter ⚠
p.Gly130Asp Single submitter ⚠
p.Gly132Glu Single submitter ⚠
p.Gly345Ser Single submitter ⚠
p.Gly416Asp Single submitter ⚠
p.Gly453Arg Single submitter ⚠
p.Gly460Val Single submitter ⚠
p.Gly525Asp Single submitter ⚠
p.Gly55Ser Single submitter ⚠
p.Gly614Glu Single submitter ⚠
p.Gly632Arg Single submitter ⚠
p.Gly674Ala Single submitter ⚠
p.Gly674Cys Single submitter ⚠
p.Gly724Arg Single submitter ⚠
p.Gly870Ser Single submitter ⚠
p.Gly997Ala Single submitter ⚠
p.His1110Arg Single submitter ⚠
p.His140Asn Single submitter ⚠
p.His194Tyr Single submitter ⚠
p.His434Arg Single submitter ⚠
p.His495Arg Single submitter ⚠
p.His495Tyr Single submitter ⚠
p.His598Tyr Single submitter ⚠
p.His8Asp Single submitter ⚠
p.His8Gln Single submitter ⚠
p.His974Leu Single submitter ⚠
p.Ile95Val Single submitter ⚠
p.Leu202Gln Single submitter ⚠
p.Leu21Val Single submitter ⚠
p.Leu249Phe Single submitter ⚠
p.Leu325Phe Single submitter ⚠
p.Leu326Pro Single submitter ⚠
p.Leu586Val Single submitter ⚠
p.Leu629Phe Single submitter ⚠
p.Leu93Ser Single submitter ⚠
p.Lys1243Asn Single submitter ⚠
p.Lys282Arg Single submitter ⚠
p.Met44Ile Single submitter ⚠
p.Met999Ile Single submitter ⚠
p.Phe1154Val Single submitter ⚠
p.Phe311Leu Single submitter ⚠
p.Phe944Leu Single submitter ⚠
p.Pro1019Leu Single submitter ⚠
p.Pro1049Ala Single submitter ⚠
p.Pro1071Ser Single submitter ⚠
p.Pro1073Leu Single submitter ⚠
p.Pro1079Thr Single submitter ⚠
p.Pro1089Ser Single submitter ⚠
p.Pro1125Thr Single submitter ⚠
p.Pro1149Ser Single submitter ⚠
p.Pro1191Leu Single submitter ⚠
p.Pro1230Thr Single submitter ⚠
p.Pro1234Ser Single submitter ⚠
p.Pro1272Leu Single submitter ⚠
p.Pro128Thr Single submitter ⚠
p.Pro138Arg Single submitter ⚠
p.Pro162Leu Single submitter ⚠
p.Pro177Leu Single submitter ⚠
p.Pro213Leu Single submitter ⚠
p.Pro272Gln Single submitter ⚠
p.Pro329Leu Single submitter ⚠
p.Pro330Leu Single submitter ⚠
p.Pro364Leu Single submitter ⚠
p.Pro469Leu Single submitter ⚠
p.Pro470Ala Single submitter ⚠
p.Pro505Arg Single submitter ⚠
p.Pro560Ala Single submitter ⚠
p.Pro581Leu Single submitter ⚠
p.Pro581Ser Single submitter ⚠
p.Pro615His Single submitter ⚠
p.Pro832Ala Single submitter ⚠
p.Pro836Leu Single submitter ⚠
p.Pro892Ser Single submitter ⚠
p.Pro894Ser Single submitter ⚠
p.Pro896Leu Single submitter ⚠
p.Pro896Ser Single submitter ⚠
p.Pro897Ser Single submitter ⚠
p.Pro912Leu Single submitter ⚠
p.Ser1023Leu Single submitter ⚠
p.Ser1036Arg Single submitter ⚠
p.Ser1065Tyr Single submitter ⚠
p.Ser120Thr Single submitter ⚠
p.Ser125Arg Single submitter ⚠
p.Ser1278Gly Single submitter ⚠
p.Ser143Asn Single submitter ⚠
p.Ser150Pro Single submitter ⚠
p.Ser187Phe Single submitter ⚠
p.Ser235Pro Single submitter ⚠
p.Ser328Tyr Single submitter ⚠
p.Ser390Thr Single submitter ⚠
p.Ser414Phe Single submitter ⚠
p.Ser438Cys Single submitter ⚠
p.Ser535Leu Single submitter ⚠
p.Ser599Ala Single submitter ⚠
p.Ser610Leu Single submitter ⚠
p.Ser617Phe Single submitter ⚠
p.Ser649Asn Single submitter ⚠
p.Ser654Pro Single submitter ⚠
p.Ser673Phe Single submitter ⚠
p.Ser751Leu Single submitter ⚠
p.Ser756Arg Single submitter ⚠
p.Ser86Arg Single submitter ⚠
p.Thr1217Ile Single submitter ⚠
p.Thr256Met Single submitter ⚠
p.Thr418Ile Single submitter ⚠
p.Thr431Met Single submitter ⚠
p.Thr474Ala Single submitter ⚠
p.Thr479Met Single submitter ⚠
p.Thr656Met Single submitter ⚠
p.Thr683Met Single submitter ⚠
p.Thr701Pro Single submitter ⚠
p.Thr762Met Single submitter ⚠
p.Tyr1198Cys Single submitter ⚠
p.Tyr251Cys Single submitter ⚠
p.Tyr450Cys Single submitter ⚠
p.Tyr807Asp Single submitter ⚠
p.Tyr891Cys Single submitter ⚠
p.Val1061Leu Single submitter ⚠
p.Val1103Ile Single submitter ⚠
p.Val1128Gly Single submitter ⚠
p.Val1173Met Single submitter ⚠
p.Val1207Met Single submitter ⚠
p.Val154Ala Single submitter ⚠
p.Val265Met Single submitter ⚠
p.Val283Met Single submitter ⚠
p.Val308Met Single submitter ⚠
p.Val338Met Single submitter ⚠
p.Val410Ile Single submitter ⚠
p.Val446Glu Single submitter ⚠
p.Val478Ala Single submitter ⚠
p.Val534Phe Single submitter ⚠
p.Val568Met Single submitter ⚠
p.Val663Ala Single submitter ⚠
p.Val675Leu Single submitter ⚠
p.Val759Ile Single submitter ⚠
p.Val768Leu Single submitter ⚠
p.Val768Met Single submitter ⚠
p.Val796Met Single submitter ⚠
p.Val809Ala Single submitter ⚠
p.Val809Ile Single submitter ⚠
p.Val823Leu Single submitter ⚠
p.Val823Met Single submitter ⚠
p.Val82Leu Single submitter ⚠
p.Val862Met Single submitter ⚠
p.Val902Ile Single submitter ⚠
p.Val973Met Single submitter ⚠
p.Val975Met Single submitter ⚠
p.Val991Leu Single submitter ⚠
p.Ser131Cys No assertion criteria palmoplantar keratoderma i, striate, focal, or diffuse ⚠