COL22A1 — 317 ClinVar variants

All ClinVar germline COL22A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 298 flagged for review →

2 Conflicting · 3 Benign · 17 Likely benign · 295 Uncertain significance

Full COL22A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 298

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.

COL22A1 p.Asp1112Asn Conflicting Single submitter

Predictors lean, ClinVar uncertain 128

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

Predictors split 169

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 169

All COL22A1 variants

Conflicting classifications of pathogenicity 2

p.Arg362Gln Single submitter ⚠
p.Asp1112Asn Single submitter ⚠

Benign 3

p.Glu736Asp Multiple submitters
p.Gly1180= Multiple submitters
p.Pro763Leu Multiple submitters

Likely benign 17

p.Arg1079Gln Single submitter ⚠
p.Arg459Gln Single submitter
p.Arg582His Single submitter
p.Arg887His Single submitter
p.Asn1115Ser Single submitter
p.Asn357Ser Single submitter
p.Asp755= Single submitter
p.Gly23Ser Single submitter
p.His429= Single submitter
p.Ile380Val Single submitter
p.Ile788Thr Single submitter
p.Leu1483His Single submitter
p.Lys1009Glu Single submitter
p.Pro1086Ala Single submitter ⚠
p.Pro506Leu Single submitter ⚠
p.Pro630= Single submitter
p.Pro72= Single submitter

Uncertain significance 295

p.Ala1005Ser Single submitter ⚠
p.Ala103Val Single submitter ⚠
p.Ala1077Gly Single submitter ⚠
p.Ala120Ser Single submitter ⚠
p.Ala1212Ser Single submitter ⚠
p.Ala1295Thr Single submitter ⚠
p.Ala133Asp Single submitter ⚠
p.Ala1481Ser Single submitter ⚠
p.Ala168Ser Single submitter ⚠
p.Ala294Thr Single submitter ⚠
p.Ala334Thr Single submitter ⚠
p.Ala334Val Single submitter ⚠
p.Ala383Val Single submitter ⚠
p.Ala430Thr Single submitter ⚠
p.Ala503Val Single submitter ⚠
p.Ala509Thr Single submitter ⚠
p.Ala661Val Single submitter ⚠
p.Ala670Ser Single submitter ⚠
p.Ala842Pro Single submitter ⚠
p.Ala926Ser Single submitter ⚠
p.Arg1027Gln Single submitter ⚠
p.Arg1039Pro Single submitter ⚠
p.Arg1065Leu Single submitter ⚠
p.Arg106Gln Single submitter ⚠
p.Arg1079Trp Single submitter ⚠
p.Arg1173Cys Single submitter ⚠
p.Arg1173His Single submitter ⚠
p.Arg1272Gln Single submitter ⚠
p.Arg127Cys Single submitter ⚠
p.Arg1290Gln Single submitter ⚠
p.Arg1365Cys Single submitter ⚠
p.Arg1365His Single submitter ⚠
p.Arg140Cys Single submitter ⚠
p.Arg140Ser Single submitter ⚠
p.Arg1466Gln Single submitter ⚠
p.Arg1498Ser Single submitter ⚠
p.Arg1513Leu Single submitter ⚠
p.Arg167Gly Single submitter ⚠
p.Arg167His Single submitter ⚠
p.Arg167Leu Single submitter ⚠
p.Arg214Trp Single submitter ⚠
p.Arg227His Single submitter ⚠
p.Arg232Cys Single submitter ⚠
p.Arg232Ser Single submitter ⚠
p.Arg271Trp Single submitter ⚠
p.Arg29Trp Single submitter ⚠
p.Arg306Trp Single submitter ⚠
p.Arg327Trp Single submitter ⚠
p.Arg355Pro Single submitter ⚠
p.Arg362Pro Single submitter ⚠
p.Arg362Trp Single submitter ⚠
p.Arg393Gly Single submitter ⚠
p.Arg420Leu Single submitter ⚠
p.Arg459Trp Single submitter ⚠
p.Arg568= Single submitter
p.Arg568Gln Single submitter ⚠
p.Arg568Trp Single submitter ⚠
p.Arg582Gly Single submitter ⚠
p.Arg58Gln Single submitter ⚠
p.Arg58Trp Single submitter ⚠
p.Arg5Gln Single submitter ⚠
p.Arg604Gln Single submitter ⚠
p.Arg695Gln Single submitter ⚠
p.Arg695Pro Single submitter ⚠
p.Arg74Ser Single submitter ⚠
p.Arg81Gly Single submitter ⚠
p.Arg836Gln Single submitter ⚠
p.Arg862Gln Single submitter ⚠
p.Arg951Cys Single submitter ⚠
p.Arg951His Single submitter ⚠
p.Arg969Gly Single submitter ⚠
p.Arg992His Single submitter ⚠
p.Asn116Ser Single submitter ⚠
p.Asn1353His Single submitter ⚠
p.Asn1622Lys Single submitter ⚠
p.Asn237Ser Single submitter ⚠
p.Asn332Lys Single submitter ⚠
p.Asn338Asp Single submitter ⚠
p.Asn475Ser Single submitter ⚠
p.Asp1105Asn Single submitter ⚠
p.Asp1206Gly Single submitter ⚠
p.Asp1283Asn Single submitter ⚠
p.Asp1283Gly Single submitter ⚠
p.Asp160Tyr Single submitter ⚠
p.Asp317Glu Single submitter ⚠
p.Asp317Gly Single submitter ⚠
p.Asp329Gly Single submitter ⚠
p.Asp363Ala Single submitter ⚠
p.Asp426Gly Single submitter ⚠
p.Asp607His Single submitter ⚠
p.Asp686Asn Single submitter ⚠
p.Asp686His Single submitter ⚠
p.Asp875Asn Single submitter ⚠
p.Asp986Gly Single submitter ⚠
p.Cys382Gly Single submitter ⚠
p.Cys435Ser Single submitter ⚠
p.Gln1021His Single submitter ⚠
p.Gln1170Glu Single submitter ⚠
p.Gln1218Arg Single submitter ⚠
p.Gln1431His Single submitter ⚠
p.Gln1448His Single submitter ⚠
p.Gln1525Lys Single submitter ⚠
p.Gln155Arg Single submitter ⚠
p.Gln1609Pro Single submitter ⚠
p.Glu1245Lys Single submitter ⚠
p.Glu1262Lys Single submitter ⚠
p.Glu1373Lys Single submitter ⚠
p.Glu1457Lys Single submitter ⚠
p.Glu1569Asp Single submitter ⚠
p.Glu186Gly Single submitter ⚠
p.Glu186Val Single submitter ⚠
p.Glu292Ala Single submitter ⚠
p.Glu336Val Single submitter ⚠
p.Glu391Lys Single submitter ⚠
p.Glu433Lys Single submitter ⚠
p.Glu555Val Single submitter ⚠
p.Glu683Gln Single submitter ⚠
p.Glu790Lys Single submitter ⚠
p.Glu799Lys Single submitter ⚠
p.Glu823Gly Single submitter ⚠
p.Glu872Val Single submitter ⚠
p.Glu881Lys Single submitter ⚠
p.Glu959Asp Single submitter ⚠
p.Glu988Asp Single submitter ⚠
p.Gly1040Asp Single submitter ⚠
p.Gly1040Ser Single submitter ⚠
p.Gly1043Asp Single submitter ⚠
p.Gly1054Arg Single submitter ⚠
p.Gly1060Arg Single submitter ⚠
p.Gly1123Val Single submitter ⚠
p.Gly1162Val Single submitter ⚠
p.Gly1171Arg Single submitter ⚠
p.Gly1243Asp Single submitter ⚠
p.Gly135Ser Single submitter ⚠
p.Gly1515Ser Single submitter ⚠
p.Gly1527Ala Single submitter ⚠
p.Gly1527Asp Single submitter ⚠
p.Gly1539Ala Single submitter ⚠
p.Gly1545Ser Single submitter ⚠
p.Gly1568Arg Single submitter ⚠
p.Gly1591Val Single submitter ⚠
p.Gly1594Asp Single submitter ⚠
p.Gly169Asp Single submitter ⚠
p.Gly178Arg Single submitter ⚠
p.Gly178Ser Single submitter ⚠
p.Gly24Ser Single submitter ⚠
p.Gly330Ser Single submitter ⚠
p.Gly3Ser Single submitter ⚠
p.Gly441Val Single submitter ⚠
p.Gly499Glu Single submitter ⚠
p.Gly502Glu Single submitter ⚠
p.Gly522Arg Single submitter ⚠
p.Gly533Asp Single submitter ⚠
p.Gly533Val Single submitter ⚠
p.Gly578Arg Single submitter ⚠
p.Gly596Glu Single submitter ⚠
p.Gly672Arg Single submitter ⚠
p.Gly684Asp Single submitter ⚠
p.Gly717Glu Single submitter ⚠
p.Gly723Ala Single submitter ⚠
p.Gly732Val Single submitter ⚠
p.Gly735Ala Single submitter ⚠
p.Gly807Trp Single submitter ⚠
p.Gly955Ser Single submitter ⚠
p.Gly96Ala Single submitter ⚠
p.Gly990Glu Single submitter ⚠
p.His111Asp Single submitter ⚠
p.His1424Gln Single submitter ⚠
p.His1592Arg Single submitter ⚠
p.Ile1032Thr Single submitter ⚠
p.Ile321Met Single submitter ⚠
p.Leu1018Pro Single submitter ⚠
p.Leu1097Phe Single submitter ⚠
p.Leu1101Pro Single submitter ⚠
p.Leu1108Arg Single submitter ⚠
p.Leu1265Val Single submitter ⚠
p.Leu1454Val Single submitter ⚠
p.Leu1464fs Single submitter
p.Leu1480Phe Single submitter ⚠
p.Leu16Val Single submitter ⚠
p.Leu39Arg Single submitter ⚠
p.Leu588Phe Single submitter ⚠
p.Leu691Ser Single submitter ⚠
p.Leu733Phe Single submitter ⚠
p.Leu977Phe Single submitter ⚠
p.Lys1139Met Single submitter ⚠
p.Lys1148Ile Single submitter ⚠
p.Lys1149Thr Single submitter ⚠
p.Lys1328Arg Single submitter ⚠
p.Lys1328Asn Single submitter ⚠
p.Lys1422Arg Single submitter ⚠
p.Lys143Asn Single submitter ⚠
p.Lys182Glu Single submitter ⚠
p.Lys307Asn Single submitter ⚠
p.Lys344Glu Single submitter ⚠
p.Lys406Arg Single submitter ⚠
p.Lys513Asn Single submitter ⚠
p.Lys754Asn Single submitter ⚠
p.Lys947Thr Single submitter ⚠
p.Met1517Ile Single submitter ⚠
p.Met272Leu Single submitter ⚠
p.Met549Ile Single submitter ⚠
p.Met567Arg Single submitter ⚠
p.Met701Arg Single submitter ⚠
p.Phe198Ser Single submitter ⚠
p.Phe41Ile Single submitter ⚠
p.Phe739Ile Single submitter ⚠
p.Phe739Leu Single submitter ⚠
p.Phe90Ser Single submitter ⚠
p.Pro1049Arg Single submitter ⚠
p.Pro1091Ser Single submitter ⚠
p.Pro1095Leu Single submitter ⚠
p.Pro1118Ser Single submitter ⚠
p.Pro1118Thr Single submitter ⚠
p.Pro1121Thr Single submitter ⚠
p.Pro1137Arg Single submitter ⚠
p.Pro1154Leu Single submitter ⚠
p.Pro1158Ser Single submitter ⚠
p.Pro1188Ser Single submitter ⚠
p.Pro1197Leu Single submitter ⚠
p.Pro1236His Single submitter ⚠
p.Pro1251Ser Single submitter ⚠
p.Pro1257Thr Single submitter ⚠
p.Pro1289Leu Single submitter ⚠
p.Pro1326Thr Single submitter ⚠
p.Pro1338Thr Single submitter ⚠
p.Pro1368Leu Single submitter ⚠
p.Pro1416Leu Single submitter ⚠
p.Pro1430Leu Single submitter ⚠
p.Pro1443Gln Single submitter ⚠
p.Pro1488His Single submitter ⚠
p.Pro1488Ser Single submitter ⚠
p.Pro1504Ser Single submitter ⚠
p.Pro1505Ser Single submitter ⚠
p.Pro1531Thr Single submitter ⚠
p.Pro1547Arg Single submitter ⚠
p.Pro1581Leu Single submitter ⚠
p.Pro1596Leu Single submitter ⚠
p.Pro1620Leu Single submitter ⚠
p.Pro413Ser Single submitter ⚠
p.Pro456Arg Single submitter ⚠
p.Pro457Arg Single submitter ⚠
p.Pro510Ser Single submitter ⚠
p.Pro523Thr Single submitter ⚠
p.Pro541Thr Single submitter ⚠
p.Pro562Leu Single submitter ⚠
p.Pro579Arg Single submitter ⚠
p.Pro610Leu Single submitter ⚠
p.Pro613Ala Single submitter ⚠
p.Pro646Gln Single submitter ⚠
p.Pro679Ser Single submitter ⚠
p.Pro703Gln Single submitter ⚠
p.Pro704Leu Single submitter ⚠
p.Pro704Ser Single submitter ⚠
p.Pro724Leu Single submitter ⚠
p.Pro740Leu Single submitter ⚠
p.Pro782Ser Single submitter ⚠
p.Pro797Thr Single submitter ⚠
p.Pro869His Single submitter ⚠
p.Pro900Gln Single submitter ⚠
p.Pro900Leu Single submitter ⚠
p.Pro980Leu Single submitter ⚠
p.Pro998Arg Single submitter ⚠
p.Pro998Ser Single submitter ⚠
p.Ser1102Phe Single submitter ⚠
p.Ser1233Pro Single submitter ⚠
p.Ser1284Cys Single submitter ⚠
p.Ser128Arg Single submitter ⚠
p.Ser1458Tyr Single submitter ⚠
p.Ser1532Phe Single submitter ⚠
p.Ser154Gly Single submitter ⚠
p.Ser1615Cys Single submitter ⚠
p.Ser427Leu Single submitter ⚠
p.Ser440Leu Single submitter ⚠
p.Ser477Pro Single submitter ⚠
p.Ser546Asn Single submitter ⚠
p.Ser935Gly Single submitter ⚠
p.Ser97Leu Single submitter ⚠
p.Thr387Ile Single submitter ⚠
p.Thr449Arg Single submitter ⚠
p.Thr616Pro Single submitter ⚠
p.Thr749Met Single submitter ⚠
p.Thr766Ala Single submitter ⚠
p.Trp14Cys Single submitter ⚠
p.Tyr1612His Single submitter ⚠
p.Tyr269His Single submitter ⚠
p.Tyr37His Single submitter ⚠
p.Val1113Met Single submitter ⚠
p.Val197Ile Single submitter ⚠
p.Val226Ile Single submitter ⚠
p.Val376Ile Single submitter ⚠
p.Val447Met Single submitter ⚠
p.Val49Glu Single submitter ⚠
p.Val637Met Single submitter ⚠
p.Val80Met Single submitter ⚠