COL14A1 — 335 ClinVar variants
All ClinVar germline COL14A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →
1 Conflicting · 98 Benign · 2 Benign/Likely benign · 33 Likely benign · 201 Uncertain significance
Full COL14A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 189
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.
Predictors lean, ClinVar uncertain 153
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 153
- COL14A1 p.Thr687Met Uncertain significance Multiple submitters
- COL14A1 p.Ala1028Val Uncertain significance Single submitter
- COL14A1 p.Ala1126Glu Uncertain significance Single submitter
- COL14A1 p.Ala1126Val Uncertain significance Single submitter
- COL14A1 p.Ala1170Ser Uncertain significance Single submitter
- COL14A1 p.Ala1304Ser Uncertain significance Single submitter
- COL14A1 p.Ala1464Val Uncertain significance Single submitter
- COL14A1 p.Ala1600Glu Uncertain significance Single submitter
- COL14A1 p.Ala1788Thr Uncertain significance Single submitter
- COL14A1 p.Ala200Glu Uncertain significance Single submitter
- COL14A1 p.Ala297Thr Uncertain significance Single submitter
- COL14A1 p.Ala477Gly Uncertain significance Single submitter
- COL14A1 p.Ala81Val Uncertain significance Single submitter
- COL14A1 p.Ala822Thr Uncertain significance Single submitter
- COL14A1 p.Ala879Val Uncertain significance Single submitter
- COL14A1 p.Arg1275Gly Uncertain significance Single submitter
- COL14A1 p.Arg1350Lys Uncertain significance Single submitter
- COL14A1 p.Arg1402Gly Uncertain significance Single submitter
- COL14A1 p.Arg1491Gln Uncertain significance Single submitter
- COL14A1 p.Arg1621Cys Uncertain significance Single submitter
- COL14A1 p.Arg1621His Uncertain significance Single submitter
- COL14A1 p.Arg175Thr Uncertain significance Single submitter
- COL14A1 p.Arg35Lys Uncertain significance Single submitter
- COL14A1 p.Arg836Gln Uncertain significance Single submitter
- COL14A1 p.Arg971Lys Uncertain significance Single submitter
- COL14A1 p.Asn103Ser Uncertain significance Single submitter
- COL14A1 p.Asn1049Ser Uncertain significance Single submitter
- COL14A1 p.Asn1063Ser Uncertain significance Single submitter
- COL14A1 p.Asn234Ser Uncertain significance Single submitter
- COL14A1 p.Asn571Lys Uncertain significance Single submitter
- COL14A1 p.Asn791Lys Uncertain significance Single submitter
- COL14A1 p.Asn791Ser Uncertain significance Single submitter
- COL14A1 p.Asp1121Asn Uncertain significance Single submitter
- COL14A1 p.Asp1121Glu Uncertain significance Single submitter
- COL14A1 p.Asp1148Asn Uncertain significance Single submitter
- COL14A1 p.Asp1160Gly Uncertain significance Single submitter
- COL14A1 p.Asp1242Tyr Uncertain significance Single submitter
- COL14A1 p.Asp125Val Uncertain significance Single submitter
- COL14A1 p.Asp1338Val Uncertain significance Single submitter
- COL14A1 p.Asp1419Tyr Uncertain significance Single submitter
- COL14A1 p.Asp583Asn Uncertain significance Single submitter
- COL14A1 p.Asp633Gly Uncertain significance Single submitter
- COL14A1 p.Asp650Asn Uncertain significance Single submitter
- COL14A1 p.Asp909Asn Uncertain significance Single submitter
- COL14A1 p.Cys23Ser Uncertain significance Single submitter
- COL14A1 p.Gln1076Arg Uncertain significance Single submitter
- COL14A1 p.Gln272Glu Uncertain significance Single submitter
- COL14A1 p.Gln341Arg Uncertain significance Single submitter
- COL14A1 p.Gln74Arg Uncertain significance Single submitter
- COL14A1 p.Gln78Pro Uncertain significance Single submitter
- COL14A1 p.Gln93His Uncertain significance Single submitter
- COL14A1 p.Gln956Arg Uncertain significance Single submitter
- COL14A1 p.Glu107Ala Uncertain significance Single submitter
- COL14A1 p.Glu107Lys Uncertain significance Single submitter
- COL14A1 p.Glu1127Gly Uncertain significance Single submitter
- COL14A1 p.Glu1670Asp Uncertain significance Single submitter
- COL14A1 p.Glu397Lys Uncertain significance Single submitter
- COL14A1 p.Glu702Lys Uncertain significance Single submitter
- COL14A1 p.Gly1144Arg Uncertain significance Single submitter
- COL14A1 p.Gly1405Arg Uncertain significance Single submitter
- COL14A1 p.Gly1495Asp Uncertain significance Single submitter
- COL14A1 p.Gly1681Arg Uncertain significance Single submitter
- COL14A1 p.Gly1768Asp Uncertain significance Single submitter
- COL14A1 p.Gly1795Arg Uncertain significance Single submitter
- COL14A1 p.Gly485Arg Uncertain significance Single submitter
- COL14A1 p.Gly996Glu Uncertain significance Single submitter
- COL14A1 p.His1102Gln Uncertain significance Single submitter
- COL14A1 p.His1773Asn Uncertain significance Single submitter
- COL14A1 p.His43Pro Uncertain significance Single submitter
- COL14A1 p.His678Arg Uncertain significance Single submitter
- COL14A1 p.His942Tyr Uncertain significance Single submitter
- COL14A1 p.His972Pro Uncertain significance Single submitter
- COL14A1 p.Ile1051Phe Uncertain significance Single submitter
- COL14A1 p.Ile1052Val Uncertain significance Single submitter
- COL14A1 p.Ile1116Val Uncertain significance Single submitter
- COL14A1 p.Ile1420Val Uncertain significance Single submitter
- COL14A1 p.Ile1571Arg Uncertain significance Single submitter
- COL14A1 p.Ile208Thr Uncertain significance Single submitter
- COL14A1 p.Ile266Val Uncertain significance Single submitter
- COL14A1 p.Ile41Thr Uncertain significance Single submitter
- COL14A1 p.Ile41Val Uncertain significance Single submitter
- COL14A1 p.Ile603Val Uncertain significance Single submitter
- COL14A1 p.Ile847Val Uncertain significance Single submitter
- COL14A1 p.Ile881Val Uncertain significance Single submitter
- COL14A1 p.Leu1033Pro Uncertain significance Single submitter
- COL14A1 p.Leu1062Val Uncertain significance Single submitter
- COL14A1 p.Leu1447Val Uncertain significance Single submitter
- COL14A1 p.Leu1511Pro Uncertain significance Single submitter
- COL14A1 p.Leu441Pro Uncertain significance Single submitter
- COL14A1 p.Lys1064Asn Uncertain significance Single submitter
- COL14A1 p.Lys1093Arg Uncertain significance Single submitter
- COL14A1 p.Lys1114Arg Uncertain significance Single submitter
- COL14A1 p.Lys1222Glu Uncertain significance Single submitter
- COL14A1 p.Lys51Arg Uncertain significance Single submitter
- COL14A1 p.Lys960Asn Uncertain significance Single submitter
- COL14A1 p.Met1074Leu Uncertain significance Single submitter
- COL14A1 p.Met1074Val Uncertain significance Single submitter
- COL14A1 p.Met1251Val Uncertain significance Single submitter
- COL14A1 p.Met1615Val Uncertain significance Single submitter
- COL14A1 p.Met1789Val Uncertain significance Single submitter
- COL14A1 p.Met517Ile Uncertain significance Single submitter
- COL14A1 p.Met770Lys Uncertain significance Single submitter
- COL14A1 p.Met893Ile Uncertain significance Single submitter
- COL14A1 p.Pro1482Ser Uncertain significance Single submitter
- COL14A1 p.Pro14Ser Uncertain significance Single submitter
- COL14A1 p.Pro1534Ser Uncertain significance Single submitter
- COL14A1 p.Pro1686Thr Uncertain significance Single submitter
- COL14A1 p.Pro355Gln Uncertain significance Single submitter
- COL14A1 p.Pro355Leu Uncertain significance Single submitter
- COL14A1 p.Pro720Gln Uncertain significance Single submitter
- COL14A1 p.Pro810Thr Uncertain significance Single submitter
- COL14A1 p.Ser1175Leu Uncertain significance Single submitter
- COL14A1 p.Ser1179Asn Uncertain significance Single submitter
- COL14A1 p.Ser1185Thr Uncertain significance Single submitter
- COL14A1 p.Ser1549Leu Uncertain significance Single submitter
- COL14A1 p.Ser1664Leu Uncertain significance Single submitter
- COL14A1 p.Ser348Leu Uncertain significance Single submitter
- COL14A1 p.Ser523Asn Uncertain significance Single submitter
- COL14A1 p.Ser830Leu Uncertain significance Single submitter
- COL14A1 p.Ser854Phe Uncertain significance Single submitter
- COL14A1 p.Thr1058Ala Uncertain significance Single submitter
- COL14A1 p.Thr1095Ala Uncertain significance Single submitter
- COL14A1 p.Thr1367Ser Uncertain significance Single submitter
- COL14A1 p.Thr1424Lys Uncertain significance Single submitter
- COL14A1 p.Thr1651Ile Uncertain significance Single submitter
- COL14A1 p.Thr1780Asn Uncertain significance Single submitter
- COL14A1 p.Thr1780Ile Uncertain significance Single submitter
- COL14A1 p.Thr439Ser Uncertain significance Single submitter
- COL14A1 p.Thr527Met Uncertain significance Single submitter
- COL14A1 p.Thr558Ser Uncertain significance Single submitter
- COL14A1 p.Thr594Ser Uncertain significance Single submitter
- COL14A1 p.Thr620Ser Uncertain significance Single submitter
- COL14A1 p.Thr718Ile Uncertain significance Single submitter
- COL14A1 p.Thr736Arg Uncertain significance Single submitter
- COL14A1 p.Thr771Ala Uncertain significance Single submitter
- COL14A1 p.Thr813Met Uncertain significance Single submitter
- COL14A1 p.Thr917Pro Uncertain significance Single submitter
- COL14A1 p.Tyr662Cys Uncertain significance Single submitter
- COL14A1 p.Tyr895His Uncertain significance Single submitter
- COL14A1 p.Val1178Ile Uncertain significance Single submitter
- COL14A1 p.Val1258Met Uncertain significance Single submitter
- COL14A1 p.Val1371Ala Uncertain significance Single submitter
- COL14A1 p.Val1459Met Uncertain significance Single submitter
- COL14A1 p.Val1685Leu Uncertain significance Single submitter
- COL14A1 p.Val1796Ala Uncertain significance Single submitter
- COL14A1 p.Val287Ile Uncertain significance Single submitter
- COL14A1 p.Val669Ala Uncertain significance Single submitter
- COL14A1 p.Val696Ile Uncertain significance Single submitter
- COL14A1 p.Val808Ala Uncertain significance Single submitter
- COL14A1 p.Val808Met Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- COL14A1 p.Ser458Asn Likely benign Multiple submitters
- COL14A1 p.Ala1620Val Uncertain significance Single submitter
- COL14A1 p.Ala695Thr Uncertain significance Single submitter
- COL14A1 p.Arg1725Trp Uncertain significance Single submitter
- COL14A1 p.Arg435Trp Uncertain significance Single submitter
- COL14A1 p.Arg460Gln Uncertain significance Single submitter
- COL14A1 p.Asn316Asp Uncertain significance Single submitter
- COL14A1 p.Asn834Ser Uncertain significance Single submitter
- COL14A1 p.Asp205Asn Uncertain significance Single submitter
- COL14A1 p.Asp298Asn Uncertain significance Single submitter
- COL14A1 p.Glu487Gly Uncertain significance Single submitter
- COL14A1 p.Gly1757Ala Uncertain significance Single submitter
- COL14A1 p.Gly737Val Uncertain significance Single submitter
- COL14A1 p.His654Asp Uncertain significance Single submitter
- COL14A1 p.Ile117Thr Uncertain significance Single submitter
- COL14A1 p.Ile1389Thr Uncertain significance Single submitter
- COL14A1 p.Leu236Val Uncertain significance Single submitter
- COL14A1 p.Lys1023Glu Uncertain significance Single submitter
- COL14A1 p.Met1251Ile Uncertain significance Single submitter
- COL14A1 p.Met1632Thr Uncertain significance Single submitter
- COL14A1 p.Phe369Ile Uncertain significance Single submitter
- COL14A1 p.Phe876Ser Uncertain significance Single submitter
- COL14A1 p.Pro1218Arg Uncertain significance Single submitter
- COL14A1 p.Pro1448Arg Uncertain significance Single submitter
- COL14A1 p.Pro1556Thr Uncertain significance Single submitter
- COL14A1 p.Pro1714His Uncertain significance Single submitter
- COL14A1 p.Pro1720Thr Uncertain significance Single submitter
- COL14A1 p.Pro1756Leu Uncertain significance Single submitter
- COL14A1 p.Pro395Ser Uncertain significance Single submitter
- COL14A1 p.Pro852Leu Uncertain significance Single submitter
- COL14A1 p.Ser1271Phe Uncertain significance Single submitter
- COL14A1 p.Ser336Cys Uncertain significance Single submitter
- COL14A1 p.Thr802Ile Uncertain significance Single submitter
- COL14A1 p.Val743Ala Uncertain significance Single submitter
- COL14A1 p.Val950Phe Uncertain significance Single submitter
All COL14A1 variants
Conflicting classifications of pathogenicity 1
- p.Gln627Pro Single submitter ⚠
Benign 98
- c.1192-76G>A Multiple submitters
- c.1322-124C>G Multiple submitters
- c.2138-137G>A Multiple submitters
- c.2349+209C>T Multiple submitters
- c.2349+232G>T Multiple submitters
- c.2480-9T>C Multiple submitters
- c.2602+46T>G Multiple submitters
- c.2603-81A>G Multiple submitters
- c.2752+71T>C Multiple submitters
- c.2869+134A>G Multiple submitters
- c.2869+141A>G Multiple submitters
- c.2869+22C>T Multiple submitters
- c.3214-244T>C Multiple submitters
- c.3214-305A>T Multiple submitters
- c.3337+100T>A Multiple submitters
- c.349+29C>G Multiple submitters
- c.3646+69G>A Multiple submitters
- c.3647-145G>C Multiple submitters
- c.3647-3C>T Multiple submitters
- c.3824+33G>A Multiple submitters
- c.3824+78A>G Multiple submitters
- c.3825-131T>C Multiple submitters
- c.3967+28A>G Multiple submitters
- c.3968-54C>A Multiple submitters
- c.4237-71A>T Multiple submitters
- c.4314+35A>T Multiple submitters
- c.436+178G>A Multiple submitters
- c.436+181C>T Multiple submitters
- c.437-30A>C Multiple submitters
- c.4551+161G>T Multiple submitters
- c.4552-99C>T Multiple submitters
- c.4713+28A>G Multiple submitters
- c.4714-153G>A Multiple submitters
- c.4714-59T>G Multiple submitters
- c.4786-148G>A Multiple submitters
- c.4821+283G>C Multiple submitters
- c.4821+52A>G Multiple submitters
- c.4821+93A>T Multiple submitters
- c.4822-113G>A Multiple submitters
- c.4822-114G>A Multiple submitters
- c.4888+166G>A Multiple submitters
- c.712+81C>T Multiple submitters
- c.713-72G>A Multiple submitters
- c.877+42C>T Multiple submitters
- p.Asn563His Multiple submitters
- p.Asp850= Multiple submitters
- p.Glu1603= Multiple submitters
- p.Gly1608= Multiple submitters
- p.Gly204= Multiple submitters
- p.Gly744Ser Multiple submitters
- p.Leu302= Multiple submitters
- p.Leu794= Multiple submitters
- p.Pro1556= Multiple submitters
- p.Pro855Leu Multiple submitters
- p.Ser1057= Multiple submitters
- p.Ser307= Multiple submitters
- p.Ser830= Multiple submitters
- p.Thr687= Multiple submitters
- p.Val1189Ile Multiple submitters
- p.Val150Leu Multiple submitters
- c.1040-215T>C Single submitter
- c.1191+264A>T Single submitter
- c.1737+294T>G Single submitter
- c.1865-320del Single submitter
- c.1865-320T>A Single submitter
- c.205+318G>A Single submitter
- c.206-103del Single submitter
- c.2138-303G>A Single submitter
- c.2350-195_2350-189del Single submitter
- c.2480-173dup Single submitter
- c.2480-174_2480-173dup Single submitter
- c.2752+120A>C Single submitter
- c.2752+127C>T Single submitter
- c.2870-256A>C Single submitter
- c.3017-285A>G Single submitter
- c.3481+95G>A Single submitter
- c.3686-4_3686-3del Single submitter
- c.3967+148G>A Single submitter
- c.4077+167T>C Single submitter
- c.4314+275C>T Single submitter
- c.4551+207A>G Single submitter
- c.4552-143_4552-140del Single submitter
- c.4659+147_4659+148insT Single submitter
- c.4660-294T>C Single submitter
- c.4822-290T>C Single submitter
- c.4888+277G>A Single submitter
- c.5156-232G>C Single submitter
- c.5312-6C>T Single submitter
- c.592+206C>T Single submitter
- c.89-169G>T Single submitter
- c.-37-178C>T Single submitter
- p.Ala1620= Single submitter
- p.Asp92Gly Single submitter
- p.Gln114= Single submitter
- p.Gln1506= Single submitter
- p.Lys1136Arg Single submitter
- p.Ser1175= Single submitter
- p.Ser49= Single submitter
Likely benign 33
- p.Arg6Cys Multiple submitters
- p.Leu1496= Multiple submitters
- p.Ser458Asn Multiple submitters ⚠
- p.Val922Ile Multiple submitters
- c.1737+9C>T Single submitter
- c.2603-10T>C Single submitter
- p.Ala1385Thr Single submitter
- p.Arg844Trp Single submitter
- p.Asn1457Ser Single submitter
- p.Asp1196= Single submitter
- p.Asp1446Glu Single submitter
- p.Asp189Asn Single submitter
- p.Asp396= Single submitter
- p.Asp396Glu Single submitter
- p.Asp464Asn Single submitter
- p.Cys1210= Single submitter
- p.Glu521Ala Single submitter
- p.Ile1494Thr Single submitter
- p.Ile1649Val Single submitter
- p.Ile952Thr Single submitter
- p.Leu541= Single submitter
- p.Lys1376= Single submitter
- p.Met413Ile Single submitter
- p.Pro1674= Single submitter
- p.Ser1562= Single submitter
- p.Ser908= Single submitter
- p.Thr1067Ala Single submitter
- p.Thr621= Single submitter
- p.Thr67Ala Single submitter
- p.Tyr1118His Single submitter
- p.Val1541Ile Single submitter
- p.Val190= Single submitter
- p.Val20Ala Single submitter
Uncertain significance 201
- p.Thr687Met Multiple submitters ⚠
- p.Ala1028Val Single submitter ⚠
- p.Ala1126Glu Single submitter ⚠
- p.Ala1126Val Single submitter ⚠
- p.Ala1170Ser Single submitter ⚠
- p.Ala1304Ser Single submitter ⚠
- p.Ala1464Val Single submitter ⚠
- p.Ala1600Glu Single submitter ⚠
- p.Ala1620Val Single submitter ⚠
- p.Ala1788Thr Single submitter ⚠
- p.Ala200Glu Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Ala477Gly Single submitter ⚠
- p.Ala695Thr Single submitter ⚠
- p.Ala81Val Single submitter ⚠
- p.Ala822Thr Single submitter ⚠
- p.Ala879Val Single submitter ⚠
- p.Arg1275Gly Single submitter ⚠
- p.Arg1350Lys Single submitter ⚠
- p.Arg1402Gly Single submitter ⚠
- p.Arg1439Lys Single submitter
- p.Arg1491Gln Single submitter ⚠
- p.Arg1621Cys Single submitter ⚠
- p.Arg1621His Single submitter ⚠
- p.Arg1725Trp Single submitter ⚠
- p.Arg175Thr Single submitter ⚠
- p.Arg226Ter Single submitter
- p.Arg35Lys Single submitter ⚠
- p.Arg435Trp Single submitter ⚠
- p.Arg460Gln Single submitter ⚠
- p.Arg836Gln Single submitter ⚠
- p.Arg971Lys Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn1049Ser Single submitter ⚠
- p.Asn1063Ser Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn316Asp Single submitter ⚠
- p.Asn571Lys Single submitter ⚠
- p.Asn791Lys Single submitter ⚠
- p.Asn791Ser Single submitter ⚠
- p.Asn834Ser Single submitter ⚠
- p.Asp1121Asn Single submitter ⚠
- p.Asp1121Glu Single submitter ⚠
- p.Asp1148Asn Single submitter ⚠
- p.Asp1160Gly Single submitter ⚠
- p.Asp1242Tyr Single submitter ⚠
- p.Asp125Val Single submitter ⚠
- p.Asp1338Val Single submitter ⚠
- p.Asp1419Tyr Single submitter ⚠
- p.Asp205Asn Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Asp583Asn Single submitter ⚠
- p.Asp633Gly Single submitter ⚠
- p.Asp650Asn Single submitter ⚠
- p.Asp909Asn Single submitter ⚠
- p.Cys23Ser Single submitter ⚠
- p.Gln1076Arg Single submitter ⚠
- p.Gln272Glu Single submitter ⚠
- p.Gln341Arg Single submitter ⚠
- p.Gln74Arg Single submitter ⚠
- p.Gln78Pro Single submitter ⚠
- p.Gln93His Single submitter ⚠
- p.Gln956Arg Single submitter ⚠
- p.Glu1024Lys Single submitter
- p.Glu107Ala Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu1127Gly Single submitter ⚠
- p.Glu1670Asp Single submitter ⚠
- p.Glu397Lys Single submitter ⚠
- p.Glu417Gly Single submitter
- p.Glu487Gly Single submitter ⚠
- p.Glu702Lys Single submitter ⚠
- p.Gly1144Arg Single submitter ⚠
- p.Gly1405Arg Single submitter ⚠
- p.Gly1495Asp Single submitter ⚠
- p.Gly1681Arg Single submitter ⚠
- p.Gly1757Ala Single submitter ⚠
- p.Gly1768Asp Single submitter ⚠
- p.Gly1795Arg Single submitter ⚠
- p.Gly485Arg Single submitter ⚠
- p.Gly663Arg Single submitter
- p.Gly737Val Single submitter ⚠
- p.Gly996Glu Single submitter ⚠
- p.His1102Gln Single submitter ⚠
- p.His1188Arg Single submitter
- p.His1773Asn Single submitter ⚠
- p.His43Pro Single submitter ⚠
- p.His654Asp Single submitter ⚠
- p.His678Arg Single submitter ⚠
- p.His942Tyr Single submitter ⚠
- p.His972Pro Single submitter ⚠
- p.Ile1051Phe Single submitter ⚠
- p.Ile1052Val Single submitter ⚠
- p.Ile1116Val Single submitter ⚠
- p.Ile117Thr Single submitter ⚠
- p.Ile1389Thr Single submitter ⚠
- p.Ile1420Val Single submitter ⚠
- p.Ile1571Arg Single submitter ⚠
- p.Ile208Thr Single submitter ⚠
- p.Ile266Val Single submitter ⚠
- p.Ile41Thr Single submitter ⚠
- p.Ile41Val Single submitter ⚠
- p.Ile603Val Single submitter ⚠
- p.Ile847Val Single submitter ⚠
- p.Ile881Val Single submitter ⚠
- p.Leu1033Pro Single submitter ⚠
- p.Leu1062Val Single submitter ⚠
- p.Leu1447Val Single submitter ⚠
- p.Leu1511Pro Single submitter ⚠
- p.Leu17fs Single submitter
- p.Leu236Val Single submitter ⚠
- p.Leu441Pro Single submitter ⚠
- p.Lys1023Glu Single submitter ⚠
- p.Lys1064Asn Single submitter ⚠
- p.Lys1093Arg Single submitter ⚠
- p.Lys1114Arg Single submitter ⚠
- p.Lys1222Glu Single submitter ⚠
- p.Lys1523Asn Single submitter
- p.Lys51Arg Single submitter ⚠
- p.Lys960Asn Single submitter ⚠
- p.Met1074Leu Single submitter ⚠
- p.Met1074Val Single submitter ⚠
- p.Met1251Ile Single submitter ⚠
- p.Met1251Val Single submitter ⚠
- p.Met1615Val Single submitter ⚠
- p.Met1632Thr Single submitter ⚠
- p.Met1789Val Single submitter ⚠
- p.Met517Ile Single submitter ⚠
- p.Met770Lys Single submitter ⚠
- p.Met893Ile Single submitter ⚠
- p.Phe369Ile Single submitter ⚠
- p.Phe876Ser Single submitter ⚠
- p.Pro1218Arg Single submitter ⚠
- p.Pro1448Arg Single submitter ⚠
- p.Pro1482Ser Single submitter ⚠
- p.Pro14Ser Single submitter ⚠
- p.Pro1534Ser Single submitter ⚠
- p.Pro1556Thr Single submitter ⚠
- p.Pro1686Thr Single submitter ⚠
- p.Pro1714His Single submitter ⚠
- p.Pro1720Thr Single submitter ⚠
- p.Pro1756Leu Single submitter ⚠
- p.Pro355Gln Single submitter ⚠
- p.Pro355Leu Single submitter ⚠
- p.Pro395Ser Single submitter ⚠
- p.Pro720Gln Single submitter ⚠
- p.Pro810Thr Single submitter ⚠
- p.Pro852Leu Single submitter ⚠
- p.Ser1175Leu Single submitter ⚠
- p.Ser1179Asn Single submitter ⚠
- p.Ser1185Thr Single submitter ⚠
- p.Ser1271Phe Single submitter ⚠
- p.Ser1549Leu Single submitter ⚠
- p.Ser1664Leu Single submitter ⚠
- p.Ser336Cys Single submitter ⚠
- p.Ser348Leu Single submitter ⚠
- p.Ser523Asn Single submitter ⚠
- p.Ser749Cys Single submitter
- p.Ser830Leu Single submitter ⚠
- p.Ser854Phe Single submitter ⚠
- p.Ser902Phe Single submitter
- p.Thr1058Ala Single submitter ⚠
- p.Thr1092Ile Single submitter
- p.Thr1095Ala Single submitter ⚠
- p.Thr1212Ile Single submitter
- p.Thr1367Ser Single submitter ⚠
- p.Thr1424Lys Single submitter ⚠
- p.Thr1651Ile Single submitter ⚠
- p.Thr1780Asn Single submitter ⚠
- p.Thr1780Ile Single submitter ⚠
- p.Thr195Ile Single submitter
- p.Thr439Ser Single submitter ⚠
- p.Thr511Ile Single submitter
- p.Thr527Met Single submitter ⚠
- p.Thr558Ser Single submitter ⚠
- p.Thr594Ser Single submitter ⚠
- p.Thr620Ser Single submitter ⚠
- p.Thr718Ile Single submitter ⚠
- p.Thr736Arg Single submitter ⚠
- p.Thr771Ala Single submitter ⚠
- p.Thr802Ile Single submitter ⚠
- p.Thr813Met Single submitter ⚠
- p.Thr917Pro Single submitter ⚠
- p.Tyr662Cys Single submitter ⚠
- p.Tyr895His Single submitter ⚠
- p.Val1178Ile Single submitter ⚠
- p.Val1258Met Single submitter ⚠
- p.Val1371Ala Single submitter ⚠
- p.Val1459Met Single submitter ⚠
- p.Val1685Leu Single submitter ⚠
- p.Val1796Ala Single submitter ⚠
- p.Val287Ile Single submitter ⚠
- p.Val669Ala Single submitter ⚠
- p.Val696Ile Single submitter ⚠
- p.Val743Ala Single submitter ⚠
- p.Val808Ala Single submitter ⚠
- p.Val808Met Single submitter ⚠
- p.Val862Ile Single submitter ⚠
- p.Val950Phe Single submitter ⚠
- p.Val965Leu Single submitter ⚠
- p.Pro1502Leu No assertion criteria Variant of unknown significance ⚠