COL5A3 — 294 ClinVar variants

All ClinVar germline COL5A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

4 Benign · 24 Likely benign · 266 Uncertain significance

Full COL5A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 260

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 215

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 215

Predictors split 45

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

All COL5A3 variants

Benign 4

p.Asp855= Multiple submitters
p.Phe178= Multiple submitters
p.Pro1050Ser Multiple submitters
p.Val1195Ala Multiple submitters

Likely benign 24

p.Pro496= Multiple submitters
p.Ala1096Val Single submitter
p.Ala167Pro Single submitter
p.Ala1714Val Single submitter
p.Ala231Thr Single submitter
p.Arg1531Gln Single submitter
p.Arg1573= Single submitter
p.Gln1101Pro Single submitter
p.Gln748Arg Single submitter
p.Gly26Arg Single submitter
p.Gly452Ser Single submitter
p.Gly491= Single submitter
p.Gly74Ser Single submitter
p.Ile181Thr Single submitter
p.Ile67Val Single submitter
p.Phe53Leu Single submitter
p.Pro1066Ser Single submitter
p.Pro132Ser Single submitter
p.Pro1414= Single submitter
p.Pro912= Single submitter
p.Thr313Ile Single submitter
p.Trp271Leu Single submitter
p.Val307Ile Single submitter
p.Val571= Single submitter

Uncertain significance 266

p.Arg1177Trp Multiple submitters ⚠
p.Ala1005Thr Single submitter ⚠
p.Ala1096Thr Single submitter ⚠
p.Ala121Thr Single submitter ⚠
p.Ala125Gly Single submitter ⚠
p.Ala1305Thr Single submitter ⚠
p.Ala1518Val Single submitter ⚠
p.Ala1623Thr Single submitter ⚠
p.Ala1669Thr Single submitter ⚠
p.Ala1686Thr Single submitter ⚠
p.Ala1687Asp Single submitter
p.Ala1723Val Single submitter ⚠
p.Ala295Pro Single submitter ⚠
p.Ala295Thr Single submitter ⚠
p.Ala372Pro Single submitter ⚠
p.Ala424Asp Single submitter ⚠
p.Ala450Val Single submitter ⚠
p.Ala595Thr Single submitter ⚠
p.Ala753Thr Single submitter ⚠
p.Arg1012His Single submitter ⚠
p.Arg1042Trp Single submitter ⚠
p.Arg1105Gln Single submitter ⚠
p.Arg1123Gln Single submitter ⚠
p.Arg1123Trp Single submitter ⚠
p.Arg1138Lys Single submitter ⚠
p.Arg116Gln Single submitter ⚠
p.Arg1177Gln Single submitter ⚠
p.Arg11Trp Single submitter ⚠
p.Arg134Cys Single submitter ⚠
p.Arg1353Cys Single submitter ⚠
p.Arg1474Cys Single submitter ⚠
p.Arg1474Gly Single submitter ⚠
p.Arg1474His Single submitter ⚠
p.Arg1496Leu Single submitter ⚠
p.Arg1499Trp Single submitter ⚠
p.Arg1573Lys Single submitter ⚠
p.Arg1613Cys Single submitter ⚠
p.Arg1644Cys Single submitter ⚠
p.Arg1670His Single submitter ⚠
p.Arg1697Gly Single submitter ⚠
p.Arg1697Trp Single submitter ⚠
p.Arg1713Gln Single submitter ⚠
p.Arg1713Pro Single submitter ⚠
p.Arg177Cys Single submitter ⚠
p.Arg177His Single submitter ⚠
p.Arg219Trp Single submitter ⚠
p.Arg246Gln Single submitter ⚠
p.Arg356Gln Single submitter ⚠
p.Arg363Pro Single submitter ⚠
p.Arg436Gln Single submitter ⚠
p.Arg489Cys Single submitter ⚠
p.Arg489His Single submitter ⚠
p.Arg489Leu Single submitter ⚠
p.Arg550His Single submitter ⚠
p.Arg607Gly Single submitter ⚠
p.Arg615His Single submitter ⚠
p.Arg615Leu Single submitter ⚠
p.Arg712Leu Single submitter ⚠
p.Arg721Trp Single submitter ⚠
p.Arg798Cys Single submitter ⚠
p.Arg832Leu Single submitter ⚠
p.Arg838Cys Single submitter ⚠
p.Asn1634Lys Single submitter ⚠
p.Asn297Asp Single submitter ⚠
p.Asp1054Glu Single submitter ⚠
p.Asp1054Gly Single submitter ⚠
p.Asp1077Glu Single submitter ⚠
p.Asp1476Asn Single submitter ⚠
p.Asp1624Asn Single submitter ⚠
p.Asp1664Glu Single submitter ⚠
p.Asp30Val Single submitter ⚠
p.Asp325Asn Single submitter ⚠
p.Asp417Asn Single submitter ⚠
p.Asp433Glu Single submitter ⚠
p.Asp62Asn Single submitter ⚠
p.Asp679Asn Single submitter ⚠
p.Asp859His Single submitter ⚠
p.Asp987Asn Single submitter ⚠
p.Asp987His Single submitter ⚠
p.Gln1131Arg Single submitter ⚠
p.Gln139Lys Single submitter ⚠
p.Gln1429Lys Single submitter ⚠
p.Gln283Glu Single submitter ⚠
p.Gln474Glu Single submitter ⚠
p.Gln573His Single submitter ⚠
p.Gln724fs Single submitter
p.Gln768His Single submitter ⚠
p.Gln849Lys Single submitter ⚠
p.Gln907Leu Single submitter ⚠
p.Glu1011Lys Single submitter ⚠
p.Glu1030Lys Single submitter ⚠
p.Glu1074Lys Single submitter ⚠
p.Glu1332Asp Single submitter ⚠
p.Glu1401Lys Single submitter ⚠
p.Glu336Ala Single submitter ⚠
p.Glu732Lys Single submitter ⚠
p.Glu774Lys Single submitter ⚠
p.Gly1004Glu Single submitter ⚠
p.Gly1091Arg Single submitter ⚠
p.Gly1100Arg Single submitter ⚠
p.Gly114Asp Single submitter ⚠
p.Gly119Asp Single submitter ⚠
p.Gly1202Val Single submitter ⚠
p.Gly1253Glu Single submitter ⚠
p.Gly1265Arg Single submitter ⚠
p.Gly1289Ala Single submitter ⚠
p.Gly1289Ser Single submitter ⚠
p.Gly1310Ala Single submitter ⚠
p.Gly1319Ser Single submitter ⚠
p.Gly1343Asp Single submitter ⚠
p.Gly1346Arg Single submitter ⚠
p.Gly1352Val Single submitter ⚠
p.Gly1391Arg Single submitter ⚠
p.Gly1409Ser Single submitter ⚠
p.Gly1424Trp Single submitter ⚠
p.Gly1454Cys Single submitter ⚠
p.Gly1457Asp Single submitter ⚠
p.Gly156Ser Single submitter ⚠
p.Gly1581Ala Single submitter ⚠
p.Gly1728Asp Single submitter ⚠
p.Gly173Asp Single submitter ⚠
p.Gly258Cys Single submitter ⚠
p.Gly346Glu Single submitter ⚠
p.Gly39Val Single submitter ⚠
p.Gly407Val Single submitter ⚠
p.Gly419Val Single submitter ⚠
p.Gly43Ser Single submitter ⚠
p.Gly563Val Single submitter ⚠
p.Gly617Val Single submitter ⚠
p.Gly632Cys Single submitter ⚠
p.Gly650Arg Single submitter hereditary spastic paraplegia ⚠
p.Gly689Ser Single submitter ⚠
p.Gly68Val Single submitter ⚠
p.Gly758Arg Single submitter ⚠
p.Gly785Cys Single submitter ⚠
p.Gly797Glu Single submitter ⚠
p.Gly797Val Single submitter ⚠
p.Gly809Ser Single submitter ⚠
p.Gly812Arg Single submitter ⚠
p.Gly884Ala Single submitter ⚠
p.Gly893Ala Single submitter ⚠
p.Gly896Arg Single submitter ⚠
p.Gly935Arg Single submitter ⚠
p.Gly977Asp Single submitter ⚠
p.His1171Tyr Single submitter ⚠
p.His148Asp Single submitter ⚠
p.His148Tyr Single submitter
p.His1545Tyr Single submitter ⚠
p.His1553Tyr Single submitter ⚠
p.His684Tyr Single submitter ⚠
p.His687Arg Single submitter ⚠
p.Ile1021Leu Single submitter ⚠
p.Ile1228Thr Single submitter ⚠
p.Ile1411Thr Single submitter ⚠
p.Ile1444Met Single submitter ⚠
p.Ile1444Val Single submitter ⚠
p.Ile1561Ser Single submitter ⚠
p.Ile429Phe Single submitter ⚠
p.Ile658Thr Single submitter ⚠
p.Ile814Thr Single submitter ⚠
p.Leu1149Met Single submitter ⚠
p.Leu1447Pro Single submitter ⚠
p.Leu1523Gln Single submitter ⚠
p.Leu1586Phe Single submitter
p.Leu172Ser Single submitter ⚠
p.Leu315Arg Single submitter ⚠
p.Leu332Gln Single submitter ⚠
p.Leu475Ile Single submitter ⚠
p.Leu744Phe Single submitter ⚠
p.Leu904Pro Single submitter ⚠
p.Leu92Trp Single submitter ⚠
p.Lys1039Arg Single submitter ⚠
p.Lys1616Arg Single submitter ⚠
p.Lys1700Glu Single submitter ⚠
p.Lys1704Gln Single submitter ⚠
p.Lys254Thr Single submitter ⚠
p.Lys262Arg Single submitter ⚠
p.Met1168Thr Single submitter ⚠
p.Met1345Thr Single submitter ⚠
p.Phe366Leu Single submitter ⚠
p.Phe449Leu Single submitter ⚠
p.Phe738Leu Single submitter ⚠
p.Pro1000Gln Single submitter ⚠
p.Pro1098Ala Single submitter ⚠
p.Pro10Ser Single submitter ⚠
p.Pro1113Ala Single submitter ⚠
p.Pro1114Leu Single submitter ⚠
p.Pro1222Ala Single submitter ⚠
p.Pro1222Thr Single submitter ⚠
p.Pro1242Ser Single submitter ⚠
p.Pro1264Ser Single submitter ⚠
p.Pro1294Leu Single submitter ⚠
p.Pro1338Leu Single submitter ⚠
p.Pro1350Leu Single submitter ⚠
p.Pro1351Ser Single submitter ⚠
p.Pro1414Arg Single submitter ⚠
p.Pro1414Ser Single submitter ⚠
p.Pro1431Ser Single submitter ⚠
p.Pro1438Leu Single submitter ⚠
p.Pro1450Leu Single submitter ⚠
p.Pro1468Leu Single submitter ⚠
p.Pro1486Arg Single submitter ⚠
p.Pro1505Arg Single submitter ⚠
p.Pro1588Ala Single submitter ⚠
p.Pro169Ala Single submitter ⚠
p.Pro229Leu Single submitter ⚠
p.Pro235Ser Single submitter ⚠
p.Pro239Leu Single submitter ⚠
p.Pro242Leu Single submitter ⚠
p.Pro25Gln Single submitter ⚠
p.Pro275Ser Single submitter ⚠
p.Pro31Ser Single submitter ⚠
p.Pro405Leu Single submitter ⚠
p.Pro405Thr Single submitter ⚠
p.Pro412Ser Single submitter ⚠
p.Pro421Leu Single submitter ⚠
p.Pro439Leu Single submitter ⚠
p.Pro513Leu Single submitter ⚠
p.Pro523Ser Single submitter ⚠
p.Pro589Thr Single submitter ⚠
p.Pro598Leu Single submitter ⚠
p.Pro625Ser Single submitter ⚠
p.Pro667Ser Single submitter ⚠
p.Pro673Leu Single submitter ⚠
p.Pro706Leu Single submitter ⚠
p.Pro756Leu Single submitter ⚠
p.Pro801Ala Single submitter ⚠
p.Pro844Leu Single submitter ⚠
p.Pro844Thr Single submitter ⚠
p.Pro882Ser Single submitter ⚠
p.Pro885Ala Single submitter ⚠
p.Pro895Thr Single submitter ⚠
p.Pro915Leu Single submitter ⚠
p.Pro942Leu Single submitter ⚠
p.Pro988Leu Single submitter ⚠
p.Ser274Asn Single submitter ⚠
p.Ser274Gly Single submitter ⚠
p.Ser453Cys Single submitter ⚠
p.Ser609Phe Single submitter ⚠
p.Thr1261Met Single submitter ⚠
p.Thr1684Lys Single submitter ⚠
p.Thr1688Asn Single submitter ⚠
p.Thr1703Met Single submitter ⚠
p.Thr1725Pro Single submitter ⚠
p.Thr284Ala Single submitter ⚠
p.Thr293Ala Single submitter ⚠
p.Thr312Pro Single submitter ⚠
p.Thr544Ile Single submitter ⚠
p.Thr592Ser Single submitter ⚠
p.Thr77Met Single submitter ⚠
p.Thr925Arg Single submitter ⚠
p.Trp271Cys Single submitter ⚠
p.Val1033Ile Single submitter ⚠
p.Val1143Leu Single submitter ⚠
p.Val1162Ile Single submitter ⚠
p.Val1165Ile Single submitter ⚠
p.Val1366Met Single submitter ⚠
p.Val1509Ala Single submitter ⚠
p.Val1543Met Single submitter ⚠
p.Val1595Leu Single submitter ⚠
p.Val1628Gly Single submitter
p.Val306Asp Single submitter ⚠
p.Val484Gly Single submitter ⚠
p.Val526Met Single submitter ⚠
p.Val928Met Single submitter ⚠
p.Lys1402Gln No assertion criteria keratoconus