COL16A1 — 254 ClinVar variants

All ClinVar germline COL16A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 226 flagged for review →

3 Benign · 1 Benign/Likely benign · 15 Likely benign · 235 Uncertain significance

Full COL16A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 226

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 186

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 186

Predictors split 40

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

All COL16A1 variants

Benign 3

c.1258-5C>G Multiple submitters
p.Pro903Gln Multiple submitters
p.Thr62Lys Multiple submitters

Benign/Likely benign 1

c.982-10G>A Multiple submitters

Likely benign 15

p.Lys398Arg Multiple submitters
p.Ala592Val Single submitter
p.Ala714Val Single submitter
p.Arg324Gln Single submitter
p.Asn989Ser Single submitter
p.Asp736Asn Single submitter
p.Gln711= Single submitter
p.Gln711Arg Single submitter
p.Gly13Ser Single submitter
p.Ile885Val Single submitter
p.Pro1193= Single submitter
p.Pro866Ser Single submitter
p.Thr695Met Single submitter
p.Val594Leu Single submitter
p.Val835Met Single submitter

Uncertain significance 235

p.Ala1005Gly Single submitter ⚠
p.Ala1212Thr Single submitter ⚠
p.Ala1385Val Single submitter ⚠
p.Ala1406Gly Single submitter ⚠
p.Ala146Thr Single submitter ⚠
p.Ala1528Ser Single submitter ⚠
p.Ala1550Thr Single submitter ⚠
p.Ala180Val Single submitter ⚠
p.Ala254Thr Single submitter ⚠
p.Ala26Val Single submitter ⚠
p.Ala385Thr Single submitter ⚠
p.Ala607Thr Single submitter ⚠
p.Ala675Ser Single submitter ⚠
p.Ala675Thr Single submitter ⚠
p.Ala714Gly Single submitter ⚠
p.Ala726Val Single submitter ⚠
p.Ala81Thr Single submitter ⚠
p.Ala991Pro Single submitter ⚠
p.Ala991Ser Single submitter ⚠
p.Arg1107Cys Single submitter ⚠
p.Arg1191Gln Single submitter ⚠
p.Arg1271Gln Single submitter ⚠
p.Arg1316Gln Single submitter ⚠
p.Arg1409Thr Single submitter
p.Arg140Trp Single submitter ⚠
p.Arg1461Ser Single submitter ⚠
p.Arg1474Leu Single submitter
p.Arg1504Pro Single submitter ⚠
p.Arg167Cys Single submitter ⚠
p.Arg178Cys Single submitter ⚠
p.Arg277Cys Single submitter ⚠
p.Arg277His Single submitter
p.Arg324Leu Single submitter ⚠
p.Arg342Trp Single submitter ⚠
p.Arg357Trp Single submitter ⚠
p.Arg421Trp Single submitter ⚠
p.Arg56Gln Single submitter ⚠
p.Arg678Cys Single submitter ⚠
p.Arg740Gln Single submitter ⚠
p.Arg740Trp Single submitter ⚠
p.Arg757Gln Single submitter ⚠
p.Arg78Cys Single submitter
p.Arg78His Single submitter ⚠
p.Arg848His Single submitter ⚠
p.Arg90Lys Single submitter ⚠
p.Arg94Trp Single submitter ⚠
p.Arg999His Single submitter ⚠
p.Asn47Ser Single submitter ⚠
p.Asp1151Asn Single submitter ⚠
p.Asp1218Tyr Single submitter ⚠
p.Asp645Asn Single submitter ⚠
p.Asp645Tyr Single submitter ⚠
p.Cys1578Tyr Single submitter ⚠
p.Cys361Tyr Single submitter ⚠
p.Cys556Tyr Single submitter ⚠
p.Cys878Phe Single submitter ⚠
p.Gln114Lys Single submitter ⚠
p.Gln1498Pro Single submitter ⚠
p.Gln1540Pro Single submitter ⚠
p.Gln259His Single submitter ⚠
p.Gln546His Single submitter ⚠
p.Gln731Pro Single submitter ⚠
p.Gln86Glu Single submitter ⚠
p.Gln992Glu Single submitter ⚠
p.Glu1070Gln Single submitter ⚠
p.Glu1125Lys Single submitter ⚠
p.Glu232Gln Single submitter ⚠
p.Glu265Gly Single submitter ⚠
p.Glu341Val Single submitter ⚠
p.Glu397Gly Single submitter ⚠
p.Glu397Lys Single submitter ⚠
p.Glu630Lys Single submitter ⚠
p.Glu633Gly Single submitter ⚠
p.Glu707Lys Single submitter ⚠
p.Glu753Lys Single submitter ⚠
p.Glu863Gly Single submitter ⚠
p.Glu869Gln Single submitter ⚠
p.Glu948Asp Single submitter
p.Gly1012Arg Single submitter ⚠
p.Gly1048Ser Single submitter ⚠
p.Gly1057Ser Single submitter ⚠
p.Gly1129Ser Single submitter ⚠
p.Gly1147Ser Single submitter ⚠
p.Gly1198Arg Single submitter ⚠
p.Gly1213Ser Single submitter ⚠
p.Gly127Glu Single submitter ⚠
p.Gly177Arg Single submitter ⚠
p.Gly215Asp Single submitter ⚠
p.Gly346Asp Single submitter ⚠
p.Gly384Val Single submitter ⚠
p.Gly393Asp Single submitter ⚠
p.Gly396Asp Single submitter ⚠
p.Gly491Cys Single submitter ⚠
p.Gly504Cys Single submitter ⚠
p.Gly522Arg Single submitter ⚠
p.Gly534Ser Single submitter ⚠
p.Gly653Asp Single submitter ⚠
p.Gly685Asp Single submitter ⚠
p.Gly732Arg Single submitter ⚠
p.Gly73Arg Single submitter ⚠
p.Gly73Trp Single submitter ⚠
p.Gly742Arg Single submitter ⚠
p.Gly751Ser Single submitter ⚠
p.Gly754Ser Single submitter ⚠
p.Gly765Cys Single submitter ⚠
p.Gly777Asp Single submitter ⚠
p.Gly806Arg Single submitter ⚠
p.Gly836Ala Single submitter ⚠
p.Gly898Asp Single submitter ⚠
p.His1250Gln Single submitter ⚠
p.His205Tyr Single submitter ⚠
p.His226Tyr Single submitter ⚠
p.His308Arg Single submitter ⚠
p.His40Tyr Single submitter ⚠
p.Ile1523Val Single submitter ⚠
p.Ile1527Thr Single submitter ⚠
p.Ile409Val Single submitter ⚠
p.Ile460Val Single submitter ⚠
p.Leu1226Phe Single submitter ⚠
p.Leu330Arg Single submitter ⚠
p.Leu330Val Single submitter ⚠
p.Leu386Pro Single submitter ⚠
p.Leu391Pro Single submitter ⚠
p.Leu445Pro Single submitter ⚠
p.Leu585Pro Single submitter ⚠
p.Leu668Ser Single submitter ⚠
p.Leu680Met Single submitter ⚠
p.Leu801Phe Single submitter ⚠
p.Leu807Phe Single submitter ⚠
p.Leu857Phe Single submitter ⚠
p.Leu884Phe Single submitter ⚠
p.Leu995Ser Single submitter ⚠
p.Lys1393Asn Single submitter ⚠
p.Lys216Arg Single submitter ⚠
p.Lys377Arg Single submitter ⚠
p.Lys380Arg Single submitter ⚠
p.Lys404Asn Single submitter
p.Lys476Arg Single submitter ⚠
p.Lys476Asn Single submitter
p.Lys820Asn Single submitter ⚠
p.Met1239Ile Single submitter
p.Met1596Lys Single submitter ⚠
p.Met1599Thr Single submitter ⚠
p.Met889Ile Single submitter
p.Pro1037Leu Single submitter ⚠
p.Pro1044Leu Single submitter ⚠
p.Pro1097Leu Single submitter ⚠
p.Pro1098Leu Single submitter ⚠
p.Pro1142Thr Single submitter ⚠
p.Pro1158Ser Single submitter ⚠
p.Pro1170Arg Single submitter ⚠
p.Pro1170Ser Single submitter ⚠
p.Pro1178Leu Single submitter ⚠
p.Pro1179Ser Single submitter ⚠
p.Pro1232Ser Single submitter ⚠
p.Pro1242Leu Single submitter ⚠
p.Pro1256Leu Single submitter ⚠
p.Pro1256Ser Single submitter ⚠
p.Pro1265Ser Single submitter ⚠
p.Pro1283Ser Single submitter ⚠
p.Pro1287Leu Single submitter ⚠
p.Pro1290Leu Single submitter ⚠
p.Pro1302Leu Single submitter ⚠
p.Pro1334Ser Single submitter ⚠
p.Pro1340Ser Single submitter ⚠
p.Pro1343Ser Single submitter ⚠
p.Pro1366Thr Single submitter ⚠
p.Pro1403Leu Single submitter ⚠
p.Pro1415Ser Single submitter ⚠
p.Pro1417Ser Single submitter ⚠
p.Pro1421Ser Single submitter ⚠
p.Pro1490Ser Single submitter ⚠
p.Pro196Leu Single submitter ⚠
p.Pro231Leu Single submitter ⚠
p.Pro317Leu Single submitter ⚠
p.Pro347Ala Single submitter ⚠
p.Pro347Gln Single submitter ⚠
p.Pro366Leu Single submitter ⚠
p.Pro369Ser Single submitter ⚠
p.Pro376Leu Single submitter ⚠
p.Pro388Ser Single submitter ⚠
p.Pro413Arg Single submitter ⚠
p.Pro451Leu Single submitter ⚠
p.Pro457Thr Single submitter ⚠
p.Pro466Leu Single submitter ⚠
p.Pro475Leu Single submitter ⚠
p.Pro494Leu Single submitter ⚠
p.Pro595Leu Single submitter ⚠
p.Pro616Ala Single submitter ⚠
p.Pro652Ser Single submitter ⚠
p.Pro696Ala Single submitter ⚠
p.Pro696Arg Single submitter ⚠
p.Pro716Leu Single submitter ⚠
p.Pro716Ser Single submitter ⚠
p.Pro741Thr Single submitter ⚠
p.Pro761Thr Single submitter ⚠
p.Pro799Leu Single submitter ⚠
p.Pro814Arg Single submitter ⚠
p.Pro834Leu Single submitter ⚠
p.Pro834Ser Single submitter ⚠
p.Pro879His Single submitter ⚠
p.Pro890Ser Single submitter ⚠
p.Pro905Leu Single submitter ⚠
p.Pro908Thr Single submitter ⚠
p.Pro927Ser Single submitter ⚠
p.Ser1175Leu Single submitter ⚠
p.Ser141Asn Single submitter ⚠
p.Ser174Thr Single submitter ⚠
p.Ser187Asn Single submitter ⚠
p.Ser482Leu Single submitter ⚠
p.Ser841Gly Single submitter ⚠
p.Ser954Gly Single submitter ⚠
p.Ser996Leu Single submitter ⚠
p.Thr1074Met Single submitter ⚠
p.Thr112Ile Single submitter ⚠
p.Thr123Ile Single submitter ⚠
p.Thr1248Arg Single submitter ⚠
p.Thr1319Ile Single submitter ⚠
p.Thr17Ser Single submitter ⚠
p.Thr88Met Single submitter ⚠
p.Trp2Cys Single submitter ⚠
p.Trp896Arg Single submitter ⚠
p.Tyr228His Single submitter ⚠
p.Val1310Leu Single submitter ⚠
p.Val203Ala Single submitter ⚠
p.Val234Met Single submitter ⚠
p.Val412Met Single submitter ⚠
p.Val521Ile Single submitter ⚠
p.Val563Leu Single submitter ⚠
p.Val594Ile Single submitter ⚠
p.Val648Met Single submitter ⚠
p.Val755Met Single submitter ⚠
p.Val769Ile Single submitter ⚠
p.Val842Ile Single submitter ⚠
p.Val971Met Single submitter ⚠