COL21A1 — 134 ClinVar variants

All ClinVar germline COL21A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

2 Benign · 9 Likely benign · 123 Uncertain significance

Full COL21A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 72

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

Predictors split 52

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

All COL21A1 variants

Benign 2

p.Pro583Arg Single submitter ⚠
p.Pro894= Single submitter

Likely benign 9

p.Arg229Lys Single submitter
p.Arg499Gln Single submitter
p.Asp238Gly Single submitter
p.Ile445Val Single submitter
p.Ser326= Single submitter
p.Ser750Pro Single submitter
p.Thr679Met Single submitter
p.Tyr94= Single submitter
p.Val327Ile Single submitter

Uncertain significance 123

p.Ala167Pro Single submitter ⚠
p.Ala224Val Single submitter ⚠
p.Ala498Val Single submitter ⚠
p.Ala552Glu Single submitter ⚠
p.Ala568Pro Single submitter ⚠
p.Ala568Ser Single submitter ⚠
p.Ala633Asp Single submitter ⚠
p.Ala669Val Single submitter ⚠
p.Ala678Thr Single submitter ⚠
p.Ala946Ser Single submitter ⚠
p.Arg226Cys Single submitter ⚠
p.Arg32Cys Single submitter ⚠
p.Arg353His Single submitter ⚠
p.Arg517Cys Single submitter ⚠
p.Arg601Trp Single submitter ⚠
p.Arg813Gly Single submitter ⚠
p.Asn66Thr Single submitter ⚠
p.Asp125Tyr Single submitter ⚠
p.Asp160Asn Single submitter ⚠
p.Asp459Asn Single submitter ⚠
p.Asp516Glu Single submitter ⚠
p.Asp781Asn Single submitter ⚠
p.Asp920Gly Single submitter ⚠
p.Cys217Trp Single submitter ⚠
p.Cys410Arg Single submitter ⚠
p.Cys9Phe Single submitter ⚠
p.Gln386Arg Single submitter ⚠
p.Gln386Lys Single submitter ⚠
p.Gln400Glu Single submitter ⚠
p.Gln694His Single submitter ⚠
p.Gln718Lys Single submitter ⚠
p.Gln881Glu Single submitter ⚠
p.Glu105Lys Single submitter ⚠
p.Glu173Lys Single submitter ⚠
p.Glu175Asp Single submitter ⚠
p.Glu267Gln Single submitter ⚠
p.Glu684Val Single submitter ⚠
p.Glu790Gln Single submitter ⚠
p.Gly276Asp Single submitter ⚠
p.Gly452Glu Single submitter ⚠
p.Gly479Ala Single submitter ⚠
p.Gly494Glu Single submitter ⚠
p.Gly524Glu Single submitter ⚠
p.Gly527Asp Single submitter ⚠
p.Gly551Val Single submitter ⚠
p.Gly584Ser Single submitter ⚠
p.Gly629Glu Single submitter ⚠
p.Gly665Val Single submitter ⚠
p.Gly692Glu Single submitter ⚠
p.Gly719Arg Single submitter ⚠
p.Gly731Asp Single submitter ⚠
p.Gly858Ser Single submitter ⚠
p.Gly879Val Single submitter ⚠
p.Gly882Ala Single submitter ⚠
p.Gly902Ala Single submitter ⚠
p.Gly922Ala Single submitter ⚠
p.Gly925Arg Single submitter ⚠
p.His3Gln Single submitter ⚠
p.His730Arg Single submitter ⚠
p.His730Asp Single submitter ⚠
p.Ile107Leu Single submitter ⚠
p.Ile107Met Single submitter ⚠
p.Ile254Leu Single submitter ⚠
p.Ile303Met Single submitter ⚠
p.Ile370Thr Single submitter ⚠
p.Ile5Thr Single submitter ⚠
p.Ile622Ser Single submitter ⚠
p.Leu108Pro Single submitter ⚠
p.Leu235Ser Single submitter ⚠
p.Leu355Phe Single submitter ⚠
p.Leu355Ser Single submitter ⚠
p.Leu579Ile Single submitter ⚠
p.Leu847Phe Single submitter ⚠
p.Lys292Gln Single submitter ⚠
p.Lys505Arg Single submitter ⚠
p.Lys619Thr Single submitter ⚠
p.Lys655Arg Single submitter ⚠
p.Lys65Gln Single submitter ⚠
p.Met528Leu Single submitter ⚠
p.Met616Thr Single submitter ⚠
p.Met760Arg Single submitter ⚠
p.Phe401Leu Single submitter ⚠
p.Pro448Leu Single submitter ⚠
p.Pro469Ala Single submitter ⚠
p.Pro508Ser Single submitter ⚠
p.Pro567His Single submitter ⚠
p.Pro571Ala Single submitter ⚠
p.Pro571Arg Single submitter ⚠
p.Pro583Ser Single submitter ⚠
p.Pro607Ser Single submitter ⚠
p.Pro624Ser Single submitter ⚠
p.Pro646Thr Single submitter ⚠
p.Pro762Leu Single submitter ⚠
p.Pro777Thr Single submitter ⚠
p.Pro806Leu Single submitter ⚠
p.Pro827Leu Single submitter ⚠
p.Pro894Arg Single submitter ⚠
p.Pro900Ala Single submitter ⚠
p.Pro930Ala Single submitter ⚠
p.Pro933Gln Single submitter ⚠
p.Pro938Arg Single submitter ⚠
p.Pro950Leu Single submitter ⚠
p.Ser172Pro Single submitter ⚠
p.Ser187Leu Single submitter ⚠
p.Ser285Tyr Single submitter ⚠
p.Ser492Cys Single submitter ⚠
p.Ser822Tyr Single submitter ⚠
p.Ser904Asn Single submitter ⚠
p.Ser943Asn Single submitter ⚠
p.Thr114Lys Single submitter ⚠
p.Thr143Met Single submitter ⚠
p.Thr164Ile Single submitter ⚠
p.Thr219Lys Single submitter ⚠
p.Thr269Ile Single submitter ⚠
p.Thr335Ile Single submitter ⚠
p.Val140Gly Single submitter ⚠
p.Val141Ile Single submitter ⚠
p.Val239Ala Single submitter ⚠
p.Val272Ile Single submitter ⚠
p.Val399Leu Single submitter ⚠
p.Val39Ile Single submitter ⚠
p.Val800Ile Single submitter ⚠
p.Val86Leu Single submitter ⚠