CLGN — 87 ClinVar variants

All ClinVar germline CLGN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

1 Likely pathogenic · 1 Benign · 4 Likely benign · 81 Uncertain significance

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

⚑ Evidence disagreements 83

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CLGN p.Lys320Arg Likely pathogenic No assertion criteria
Short stature

Predictors lean, ClinVar uncertain 35

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

Predictors split 47

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

All CLGN variants

Likely pathogenic 1

p.Lys320Arg No assertion criteria Short stature ⚠

Benign 1

p.Cys185= Single submitter

Likely benign 4

p.Arg352Gln Single submitter
p.Asn271Ser Single submitter ⚠
p.Ser554Gly Single submitter
p.Thr28Met Single submitter

Uncertain significance 81

p.Ala210Thr Single submitter ⚠
p.Ala529Thr Single submitter ⚠
p.Ala63Gly Single submitter ⚠
p.Arg196Gly Single submitter ⚠
p.Arg373Ser Single submitter ⚠
p.Arg603His Single submitter ⚠
p.Arg608Gln Single submitter ⚠
p.Arg70Thr Single submitter ⚠
p.Asn103Lys Single submitter ⚠
p.Asn18Thr Single submitter ⚠
p.Asn574His Single submitter ⚠
p.Asp134Gly Single submitter ⚠
p.Asp147Val Single submitter ⚠
p.Asp150Asn Single submitter ⚠
p.Asp244Gly Single submitter ⚠
p.Asp286Asn Single submitter ⚠
p.Asp324Asn Single submitter ⚠
p.Asp324His Single submitter ⚠
p.Asp331Asn Single submitter ⚠
p.Asp437Tyr Single submitter ⚠
p.Asp535Tyr Single submitter ⚠
p.Asp596Asn Single submitter ⚠
p.Asp92Asn Single submitter ⚠
p.Glu142Gly Single submitter ⚠
p.Glu276Lys Single submitter ⚠
p.Glu27Asp Single submitter ⚠
p.Glu318Lys Single submitter ⚠
p.Glu398Lys Single submitter ⚠
p.Glu44Asp Single submitter ⚠
p.Glu539Ala Single submitter ⚠
p.Glu546Ala Single submitter ⚠
p.Glu590Gln Single submitter ⚠
p.Gly148Ser Single submitter ⚠
p.Gly148Val Single submitter ⚠
p.Gly354Glu Single submitter ⚠
p.Gly412Cys Single submitter ⚠
p.Gly443Asp Single submitter ⚠
p.Gly569Arg Single submitter ⚠
p.His197Leu Single submitter ⚠
p.His469Gln Single submitter ⚠
p.Ile138Leu Single submitter ⚠
p.Ile166Met Single submitter ⚠
p.Ile17Met Single submitter ⚠
p.Ile194Val Single submitter ⚠
p.Ile484Thr Single submitter ⚠
p.Leu13Arg Single submitter ⚠
p.Leu405Pro Single submitter ⚠
p.Leu413Val Single submitter ⚠
p.Leu472Pro Single submitter ⚠
p.Leu486Val Single submitter ⚠
p.Lys201Arg Single submitter ⚠
p.Lys250Glu Single submitter ⚠
p.Lys460Asn Single submitter ⚠
p.Lys507Thr Single submitter ⚠
p.Met233Val Single submitter ⚠
p.Met362Lys Single submitter ⚠
p.Met585Thr Single submitter ⚠
p.Phe21Tyr Single submitter ⚠
p.Phe3Ile Single submitter ⚠
p.Phe490Leu Single submitter ⚠
p.Pro129Gln Single submitter ⚠
p.Pro129Thr Single submitter ⚠
p.Pro375Leu Single submitter ⚠
p.Pro470Leu Single submitter ⚠
p.Pro598Leu Single submitter ⚠
p.Ser387Asn Single submitter ⚠
p.Ser387Ile Single submitter ⚠
p.Ser431Leu Single submitter ⚠
p.Ser43Arg Single submitter ⚠
p.Ser573Asn Single submitter ⚠
p.Thr162Ile Single submitter ⚠
p.Tyr423Asp Single submitter ⚠
p.Tyr423His Single submitter ⚠
p.Tyr505His Single submitter ⚠
p.Tyr61His Single submitter ⚠
p.Val105Leu Single submitter ⚠
p.Val112Leu Single submitter ⚠
p.Val125Ile Single submitter ⚠
p.Val26Ile Single submitter ⚠
p.Val290Phe Single submitter ⚠
p.Val60Ala Single submitter ⚠