COL6A5 — 391 ClinVar variants
All ClinVar germline COL6A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 333 flagged for review →
6 Conflicting · 12 Benign · 54 Likely benign · 319 Uncertain significance
Full COL6A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 333
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 187
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 187
- COL6A5 p.Ala1047Pro Uncertain significance Single submitter
- COL6A5 p.Ala1442Thr Uncertain significance Single submitter
- COL6A5 p.Ala144Thr Uncertain significance Single submitter
- COL6A5 p.Ala1975Gly Uncertain significance Single submitter
- COL6A5 p.Ala1975Pro Uncertain significance Single submitter
- COL6A5 p.Ala2259Gly Uncertain significance Single submitter
- COL6A5 p.Ala376Pro Uncertain significance Single submitter
- COL6A5 p.Ala580Thr Uncertain significance Single submitter
- COL6A5 p.Ala604Val Uncertain significance Single submitter
- COL6A5 p.Ala70Thr Uncertain significance Single submitter
- COL6A5 p.Arg1120Cys Uncertain significance Single submitter
- COL6A5 p.Arg1430Gln Uncertain significance Single submitter
- COL6A5 p.Arg1739Pro Uncertain significance Single submitter
- COL6A5 p.Arg1857Gln Uncertain significance Single submitter
- COL6A5 p.Arg1879Ser Uncertain significance Single submitter
- COL6A5 p.Arg190Gln Uncertain significance Single submitter
- COL6A5 p.Arg800His Uncertain significance Single submitter
- COL6A5 p.Arg882Gln Uncertain significance Single submitter
- COL6A5 p.Arg884His Uncertain significance Single submitter
- COL6A5 p.Arg911Cys Uncertain significance Single submitter
- COL6A5 p.Asn1018Lys Uncertain significance Single submitter
- COL6A5 p.Asn1074Ser Uncertain significance Single submitter
- COL6A5 p.Asn1283Asp Uncertain significance Single submitter
- COL6A5 p.Asn1789Asp Uncertain significance Single submitter
- COL6A5 p.Asn1873Ser Uncertain significance Single submitter
- COL6A5 p.Asn1926His Uncertain significance Single submitter
- COL6A5 p.Asn1970Ser Uncertain significance Single submitter
- COL6A5 p.Asn1992His Uncertain significance Single submitter
- COL6A5 p.Asn2248Ser Uncertain significance Single submitter
- COL6A5 p.Asn2381Lys Uncertain significance Single submitter
- COL6A5 p.Asn2396Lys Uncertain significance Single submitter
- COL6A5 p.Asn702Ser Uncertain significance Single submitter
- COL6A5 p.Asn767Ser Uncertain significance Single submitter
- COL6A5 p.Asp1030Glu Uncertain significance Single submitter
- COL6A5 p.Asp1144Glu Uncertain significance Single submitter
- COL6A5 p.Asp1736Gly Uncertain significance Single submitter
- COL6A5 p.Asp1959Glu Uncertain significance Single submitter
- COL6A5 p.Asp1963Glu Uncertain significance Single submitter
- COL6A5 p.Asp2003Ala Uncertain significance Single submitter
- COL6A5 p.Asp220His Uncertain significance Single submitter
- COL6A5 p.Asp2291Gly Uncertain significance Single submitter
- COL6A5 p.Asp30Val Uncertain significance Single submitter
- COL6A5 p.Asp39Asn Uncertain significance Single submitter
- COL6A5 p.Asp488Asn Uncertain significance Single submitter
- COL6A5 p.Asp538Asn Uncertain significance Single submitter
- COL6A5 p.Asp76Asn Uncertain significance Single submitter
- COL6A5 p.Cys1388Gly Uncertain significance Single submitter
- COL6A5 p.Cys1444Trp Uncertain significance Single submitter
- COL6A5 p.Cys1752Tyr Uncertain significance Single submitter
- COL6A5 p.Cys1938Gly Uncertain significance Single submitter
- COL6A5 p.Cys435Tyr Uncertain significance Single submitter
- COL6A5 p.Cys545Gly Uncertain significance Single submitter
- COL6A5 p.Gln1212Arg Uncertain significance Single submitter
- COL6A5 p.Gln1526Leu Uncertain significance Single submitter
- COL6A5 p.Gln1720His Uncertain significance Single submitter
- COL6A5 p.Gln1824Lys Uncertain significance Single submitter
- COL6A5 p.Gln2134Arg Uncertain significance Single submitter
- COL6A5 p.Gln295Pro Uncertain significance Single submitter
- COL6A5 p.Gln659His Uncertain significance Single submitter
- COL6A5 p.Glu151Lys Uncertain significance Single submitter
- COL6A5 p.Glu1839Lys Uncertain significance Single submitter
- COL6A5 p.Glu2250Gly Uncertain significance Single submitter
- COL6A5 p.Glu2279Lys Uncertain significance Single submitter
- COL6A5 p.Glu2351Lys Uncertain significance Single submitter
- COL6A5 p.Glu2516Asp Uncertain significance Single submitter
- COL6A5 p.Glu2516Val Uncertain significance Single submitter
- COL6A5 p.Glu611Lys Uncertain significance Single submitter
- COL6A5 p.Glu619Val Uncertain significance Single submitter
- COL6A5 p.Glu773Asp Uncertain significance Single submitter
- COL6A5 p.Gly1045Val Uncertain significance Single submitter
- COL6A5 p.Gly106Trp Uncertain significance Single submitter
- COL6A5 p.Gly1101Ala Uncertain significance Single submitter
- COL6A5 p.Gly1223Ser Uncertain significance Single submitter
- COL6A5 p.Gly1491Arg Uncertain significance Single submitter
- COL6A5 p.Gly1491Glu Uncertain significance Single submitter
- COL6A5 p.Gly1494Asp Uncertain significance Single submitter
- COL6A5 p.Gly1579Arg Uncertain significance Single submitter
- COL6A5 p.Gly1659Ser Uncertain significance Single submitter
- COL6A5 p.Gly1683Cys Uncertain significance Single submitter
- COL6A5 p.Gly1690Ala Uncertain significance Single submitter
- COL6A5 p.Gly1861Ala Uncertain significance Single submitter
- COL6A5 p.Gly1911Arg Uncertain significance Single submitter
- COL6A5 p.Gly1916Glu Uncertain significance Single submitter
- COL6A5 p.Gly2024Asp Uncertain significance Single submitter
- COL6A5 p.Gly2210Ala Uncertain significance Single submitter
- COL6A5 p.Gly2228Arg Uncertain significance Single submitter
- COL6A5 p.Gly25Asp Uncertain significance Single submitter
- COL6A5 p.Gly325Asp Uncertain significance Single submitter
- COL6A5 p.Gly535Arg Uncertain significance Single submitter
- COL6A5 p.Gly847Val Uncertain significance Single submitter
- COL6A5 p.Gly89Val Uncertain significance Single submitter
- COL6A5 p.Gly909Asp Uncertain significance Single submitter
- COL6A5 p.His1098Arg Uncertain significance Single submitter
- COL6A5 p.His1149Tyr Uncertain significance Single submitter
- COL6A5 p.His1214Tyr Uncertain significance Single submitter
- COL6A5 p.His1281Tyr Uncertain significance Single submitter
- COL6A5 p.His2143Arg Uncertain significance Single submitter
- COL6A5 p.His2489Gln Uncertain significance Single submitter
- COL6A5 p.His832Tyr Uncertain significance Single submitter
- COL6A5 p.His83Arg Uncertain significance Single submitter
- COL6A5 p.Ile1037Val Uncertain significance Single submitter
- COL6A5 p.Ile1201Thr Uncertain significance Single submitter
- COL6A5 p.Ile137Val Uncertain significance Single submitter
- COL6A5 p.Ile1784Val Uncertain significance Single submitter
- COL6A5 p.Ile1883Val Uncertain significance Single submitter
- COL6A5 p.Ile1921Thr Uncertain significance Single submitter
- COL6A5 p.Ile2386Leu Uncertain significance Single submitter
- COL6A5 p.Ile2394Val Uncertain significance Single submitter
- COL6A5 p.Ile2410Thr Uncertain significance Single submitter
- COL6A5 p.Ile261Leu Uncertain significance Single submitter
- COL6A5 p.Ile307Met Uncertain significance Single submitter
- COL6A5 p.Ile3Val Uncertain significance Single submitter
- COL6A5 p.Ile531Val Uncertain significance Single submitter
- COL6A5 p.Ile53Val Uncertain significance Single submitter
- COL6A5 p.Leu1374Pro Uncertain significance Single submitter
- COL6A5 p.Leu1405Val Uncertain significance Single submitter
- COL6A5 p.Leu1613Ile Uncertain significance Single submitter
- COL6A5 p.Leu1638Val Uncertain significance Single submitter
- COL6A5 p.Leu1907Arg Uncertain significance Single submitter
- COL6A5 p.Leu2213Val Uncertain significance Single submitter
- COL6A5 p.Leu2261Val Uncertain significance Single submitter
- COL6A5 p.Leu2285Pro Uncertain significance Single submitter
- COL6A5 p.Leu251Val Uncertain significance Single submitter
- COL6A5 p.Leu363Met Uncertain significance Single submitter
- COL6A5 p.Leu654Pro Uncertain significance Single submitter
- COL6A5 p.Leu986Ile Uncertain significance Single submitter
- COL6A5 p.Lys1090Glu Uncertain significance Single submitter
- COL6A5 p.Lys1297Arg Uncertain significance Single submitter
- COL6A5 p.Lys1392Arg Uncertain significance Single submitter
- COL6A5 p.Lys1628Glu Uncertain significance Single submitter
- COL6A5 p.Lys171Gln Uncertain significance Single submitter
- COL6A5 p.Lys1856Arg Uncertain significance Single submitter
- COL6A5 p.Lys1980Arg Uncertain significance Single submitter
- COL6A5 p.Lys2155Arg Uncertain significance Single submitter
- COL6A5 p.Lys2308Asn Uncertain significance Single submitter
- COL6A5 p.Lys2448Arg Uncertain significance Single submitter
- COL6A5 p.Lys675Arg Uncertain significance Single submitter
- COL6A5 p.Lys754Glu Uncertain significance Single submitter
- COL6A5 p.Lys857Glu Uncertain significance Single submitter
- COL6A5 p.Lys968Arg Uncertain significance Single submitter
- COL6A5 p.Met1193Ile Uncertain significance Single submitter
- COL6A5 p.Met2099Ile Uncertain significance Single submitter
- COL6A5 p.Met2290Val Uncertain significance Single submitter
- COL6A5 p.Met2503Val Uncertain significance Single submitter
- COL6A5 p.Met272Leu Uncertain significance Single submitter
- COL6A5 p.Met536Ile Uncertain significance Single submitter
- COL6A5 p.Met625Val Uncertain significance Single submitter
- COL6A5 p.Met833Val Uncertain significance Single submitter
- COL6A5 p.Phe1163Ser Uncertain significance Single submitter
- COL6A5 p.Phe1946Leu Uncertain significance Single submitter
Predictors split 145
The independent predictors disagree with each other — read with care.
- COL6A5 p.Val669Gly Likely benign Multiple submitters
- COL6A5 p.Ala113Thr Uncertain significance Single submitter
- COL6A5 p.Ala1247Thr Uncertain significance Single submitter
- COL6A5 p.Ala1802Thr Uncertain significance Single submitter
- COL6A5 p.Ala1846Gly Uncertain significance Single submitter
- COL6A5 p.Ala2176Asp Uncertain significance Single submitter
- COL6A5 p.Ala2415Val Uncertain significance Single submitter
- COL6A5 p.Ala2433Thr Uncertain significance Single submitter
- COL6A5 p.Ala316Pro Uncertain significance Single submitter
- COL6A5 p.Arg1180Cys Conflicting Single submitter
- COL6A5 p.Arg1288Trp Uncertain significance Single submitter
- COL6A5 p.Arg1301Gln Uncertain significance Single submitter
- COL6A5 p.Arg1301Trp Uncertain significance Single submitter
- COL6A5 p.Arg1430Leu Uncertain significance Single submitter
- COL6A5 p.Arg1815His Uncertain significance Single submitter
- COL6A5 p.Arg1815Leu Uncertain significance Single submitter
- COL6A5 p.Arg1857Trp Uncertain significance Single submitter
- COL6A5 p.Arg2120Cys Conflicting Single submitter
- COL6A5 p.Arg2163Leu Uncertain significance Single submitter
- COL6A5 p.Arg2493Cys Likely benign Single submitter
- COL6A5 p.Arg273Gln Uncertain significance Single submitter
- COL6A5 p.Arg480Gln Uncertain significance Single submitter
- COL6A5 p.Arg614Cys Uncertain significance Single submitter
- COL6A5 p.Arg68Cys Uncertain significance Single submitter
- COL6A5 p.Arg725Cys Uncertain significance Single submitter
- COL6A5 p.Arg749Gly Uncertain significance Single submitter
- COL6A5 p.Arg752Trp Uncertain significance Single submitter
- COL6A5 p.Arg850Gln Uncertain significance Single submitter
- COL6A5 p.Arg990Cys Conflicting Single submitter
- COL6A5 p.Asn1251Tyr Uncertain significance Single submitter
- COL6A5 p.Asn1283Lys Uncertain significance Single submitter
- COL6A5 p.Asn1992Lys Uncertain significance Single submitter
- COL6A5 p.Asn2381Tyr Uncertain significance Single submitter
- COL6A5 p.Asn313Ser Uncertain significance Single submitter
- COL6A5 p.Asn582Ser Uncertain significance Single submitter
- COL6A5 p.Asn643His Uncertain significance Single submitter
- COL6A5 p.Asp1011Asn Conflicting Single submitter
- COL6A5 p.Asp1085Tyr Uncertain significance Single submitter
- COL6A5 p.Asp1200Asn Uncertain significance Single submitter
- COL6A5 p.Asp1333Gly Uncertain significance Single submitter
- COL6A5 p.Asp1842Gly Uncertain significance Single submitter
- COL6A5 p.Asp1902Val Uncertain significance Single submitter
- COL6A5 p.Asp1998Tyr Uncertain significance Single submitter
- COL6A5 p.Asp2424Val Uncertain significance Single submitter
- COL6A5 p.Asp557Asn Uncertain significance Single submitter
- COL6A5 p.Asp925Asn Uncertain significance Single submitter
- COL6A5 p.Gln1216His Uncertain significance Single submitter
- COL6A5 p.Glu2029Gln Uncertain significance Single submitter
- COL6A5 p.Glu328Asp Uncertain significance Single submitter
- COL6A5 p.Glu561Gly Uncertain significance Single submitter
- COL6A5 p.Glu594Ala Uncertain significance Single submitter
- COL6A5 p.Gly1079Ser Likely benign Single submitter
- COL6A5 p.Gly1398Glu Uncertain significance Single submitter
- COL6A5 p.Gly1401Glu Uncertain significance Single submitter
- COL6A5 p.Gly1437Val Uncertain significance Single submitter
- COL6A5 p.Gly1449Arg Uncertain significance Single submitter
- COL6A5 p.Gly1449Ser Uncertain significance Single submitter
- COL6A5 p.Gly1537Ser Uncertain significance Single submitter
- COL6A5 p.Gly1576Val Uncertain significance Single submitter
- COL6A5 p.Gly1609Ala Uncertain significance Single submitter
- COL6A5 p.Gly1609Asp Uncertain significance Single submitter
- COL6A5 p.Gly161Glu Uncertain significance Single submitter
- COL6A5 p.Gly168Ala Uncertain significance Single submitter
- COL6A5 p.Gly1722Ser Uncertain significance Single submitter
- COL6A5 p.Gly2054Glu Uncertain significance Single submitter
- COL6A5 p.Gly2117Ser Uncertain significance Single submitter
- COL6A5 p.Gly2140Ala Likely benign Single submitter
- COL6A5 p.Gly2345Ala Uncertain significance Single submitter
- COL6A5 p.Gly2345Ser Uncertain significance Single submitter
- COL6A5 p.Gly591Val Uncertain significance Single submitter
- COL6A5 p.Gly776Arg Uncertain significance Single submitter
- COL6A5 p.Gly888Ala Uncertain significance Single submitter
- COL6A5 p.Gly945Ala Uncertain significance Single submitter
- COL6A5 p.His1478Tyr Uncertain significance Single submitter
- COL6A5 p.Ile2410Phe Uncertain significance Single submitter
- COL6A5 p.Ile2440Thr Uncertain significance Single submitter
- COL6A5 p.Ile2480Val Uncertain significance Single submitter
- COL6A5 p.Ile393Met Uncertain significance Single submitter
- COL6A5 p.Ile417Met Uncertain significance Single submitter
- COL6A5 p.Ile443Met Uncertain significance Single submitter
- COL6A5 p.Ile532Thr Uncertain significance Single submitter
- COL6A5 p.Ile578Thr Uncertain significance Single submitter
- COL6A5 p.Ile608Lys Uncertain significance Single submitter
- COL6A5 p.Ile667Thr Uncertain significance Single submitter
- COL6A5 p.Ile864Met Conflicting Single submitter
- COL6A5 p.Leu1133Pro Uncertain significance Single submitter
- COL6A5 p.Leu1271Val Uncertain significance Single submitter
- COL6A5 p.Leu237Phe Uncertain significance Single submitter
- COL6A5 p.Leu2404Met Uncertain significance Single submitter
- COL6A5 p.Leu804Pro Uncertain significance Single submitter
- COL6A5 p.Leu897Phe Uncertain significance Single submitter
- COL6A5 p.Leu97Phe Uncertain significance Single submitter
- COL6A5 p.Lys1077Glu Uncertain significance Single submitter
- COL6A5 p.Lys1454Glu Uncertain significance Single submitter
- COL6A5 p.Lys1508Glu Uncertain significance Single submitter
- COL6A5 p.Lys1530Asn Uncertain significance Single submitter
- COL6A5 p.Lys1542Gln Uncertain significance Single submitter
- COL6A5 p.Lys1599Glu Uncertain significance Single submitter
- COL6A5 p.Lys1667Thr Uncertain significance Single submitter
- COL6A5 p.Lys722Met Uncertain significance Single submitter
- COL6A5 p.Lys98Asn Uncertain significance Single submitter
- COL6A5 p.Phe1966Leu Uncertain significance Single submitter
- COL6A5 p.Phe2112Val Uncertain significance Single submitter
- COL6A5 p.Phe2441Leu Uncertain significance Single submitter
- COL6A5 p.Phe2487Leu Uncertain significance Single submitter
- COL6A5 p.Phe409Leu Uncertain significance Single submitter
- COL6A5 p.Pro1445Leu Uncertain significance Single submitter
- COL6A5 p.Pro1502His Uncertain significance Single submitter
- COL6A5 p.Pro1514Leu Benign Single submitter
- COL6A5 p.Pro1753Leu Uncertain significance Single submitter
- COL6A5 p.Pro1753Ser Uncertain significance Single submitter
- COL6A5 p.Pro2354Ser Uncertain significance Single submitter
- COL6A5 p.Pro2486Ala Uncertain significance Single submitter
- COL6A5 p.Pro544Leu Uncertain significance Single submitter
- COL6A5 p.Pro61Thr Uncertain significance Single submitter
- COL6A5 p.Ser1076Phe Uncertain significance Single submitter
- COL6A5 p.Ser1411Cys Uncertain significance Single submitter
- COL6A5 p.Ser143Leu Uncertain significance Single submitter
- COL6A5 p.Ser1553Asn Uncertain significance Single submitter
- COL6A5 p.Ser1783Ala Uncertain significance Single submitter
- COL6A5 p.Ser1808Leu Likely benign Single submitter
- COL6A5 p.Ser1872Asn Uncertain significance Single submitter
- COL6A5 p.Ser1872Cys Uncertain significance Single submitter
- COL6A5 p.Ser1878Ile Uncertain significance Single submitter
- COL6A5 p.Ser287Tyr Uncertain significance Single submitter
- COL6A5 p.Ser406Gly Uncertain significance Single submitter
- COL6A5 p.Ser872Leu Uncertain significance Single submitter
- COL6A5 p.Thr2329Ile Uncertain significance Single submitter
- COL6A5 p.Thr395Met Likely benign Single submitter
- COL6A5 p.Thr51Met Uncertain significance Single submitter
- COL6A5 p.Thr757Ala Uncertain significance Single submitter
- COL6A5 p.Thr86Ile Uncertain significance Single submitter
- COL6A5 p.Tyr2479Cys Uncertain significance Single submitter
- COL6A5 p.Val1123Ala Uncertain significance Single submitter
- COL6A5 p.Val1337Leu Uncertain significance Single submitter
- COL6A5 p.Val167Met Uncertain significance Single submitter
- COL6A5 p.Val1864Met Likely benign Single submitter
- COL6A5 p.Val1920Met Uncertain significance Single submitter
- COL6A5 p.Val238Met Likely benign Single submitter
- COL6A5 p.Val354Ala Uncertain significance Single submitter
- COL6A5 p.Val354Met Uncertain significance Single submitter
- COL6A5 p.Val368Met Likely benign Single submitter
- COL6A5 p.Val49Met Uncertain significance Single submitter
- COL6A5 p.Val714Leu Uncertain significance Single submitter
-
COL6A5 p.Arg2163Trp
Likely benign
No assertion criteria
COL6A5-related disorder
All COL6A5 variants
Conflicting classifications of pathogenicity 6
- p.Arg1180Cys Single submitter ⚠
- p.Arg2120Cys Single submitter ⚠
- p.Arg990Cys Single submitter ⚠
- p.Asp1011Asn Single submitter ⚠
- p.Ile864Met Single submitter ⚠
- p.Leu344Val Single submitter ⚠
Benign 12
- p.Ala2589Thr Multiple submitters
- p.Asn641His Multiple submitters
- p.Asp160= Multiple submitters
- p.Glu2272Ter Multiple submitters
- p.Lys620= Multiple submitters
- p.Ser1539Thr Multiple submitters
- p.Thr572= Multiple submitters
- p.Val2425Ile Multiple submitters
- c.4951-1G>T Single submitter
- p.Ala2151= Single submitter
- p.Pro1514Leu Single submitter ⚠
- p.Val354Leu Single submitter
Likely benign 54
- p.Val669Gly Multiple submitters ⚠
- c.2417-7C>T Single submitter
- c.4608+1G>A Single submitter
- p.Ala1676= Single submitter
- p.Ala1676Val Single submitter
- p.Ala2151Val Single submitter
- p.Ala581Val Single submitter
- p.Ala618Thr Single submitter
- p.Arg1288Gln Single submitter
- p.Arg1739Gln Single submitter
- p.Arg1937His Single submitter
- p.Arg1952Gln Single submitter
- p.Arg1972Gln Single submitter
- p.Arg2120His Single submitter
- p.Arg2493Cys Single submitter ⚠
- p.Asn281Ser Single submitter
- p.Asp831Glu Single submitter
- p.Gln2253Lys Single submitter
- p.Gln688Arg Single submitter
- p.Glu77Lys Single submitter
- p.Gly1079Ser Single submitter ⚠
- p.Gly2140Ala Single submitter ⚠
- p.Gly2518= Single submitter
- p.Gly753Asp Single submitter
- p.His1744Arg Single submitter
- p.His931Arg Single submitter
- p.Ile1968Leu Single submitter
- p.Ile798Val Single submitter
- p.Ile864Val Single submitter
- p.Leu234= Single submitter
- p.Leu682Pro Single submitter
- p.Lys1454Arg Single submitter
- p.Lys857Arg Single submitter
- p.Met1193Val Single submitter
- p.Phe1086Leu Single submitter
- p.Ser1808Leu Single submitter ⚠
- p.Thr395Met Single submitter ⚠
- p.Tyr1767= Single submitter
- p.Val1864Met Single submitter ⚠
- p.Val1920= Single submitter
- p.Val2085Ile Single submitter
- p.Val2302Ile Single submitter
- p.Val238Met Single submitter ⚠
- p.Val31= Single submitter
- p.Val368Met Single submitter ⚠
- p.Val385Ala Single submitter
- p.Val613Ile Single submitter
- p.Val739Glu Single submitter
- c.4134+10T>G No assertion criteria COL6A5-related disorder
- c.4699-9G>C No assertion criteria COL6A5-related disorder
- c.4825-4dup No assertion criteria COL6A5-related disorder
- p.Arg2163Trp No assertion criteria COL6A5-related disorder ⚠
- p.Gln1184Ter No assertion criteria COL6A5-related disorder
- p.Leu566= No assertion criteria COL6A5-related disorder
Uncertain significance 319
Showing the top 300 by review status; the full set is in the sitemap.
- c.5249-5T>C Single submitter
- c.7477+1G>T Single submitter
- p.Ala1047Pro Single submitter ⚠
- p.Ala113Thr Single submitter ⚠
- p.Ala1247Thr Single submitter ⚠
- p.Ala1442Thr Single submitter ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala1802Thr Single submitter ⚠
- p.Ala1846Gly Single submitter ⚠
- p.Ala1975Gly Single submitter ⚠
- p.Ala1975Pro Single submitter ⚠
- p.Ala2176Asp Single submitter ⚠
- p.Ala2259Gly Single submitter ⚠
- p.Ala2415Val Single submitter ⚠
- p.Ala2433Thr Single submitter ⚠
- p.Ala316Pro Single submitter ⚠
- p.Ala376Pro Single submitter ⚠
- p.Ala580Thr Single submitter ⚠
- p.Ala604Val Single submitter ⚠
- p.Ala70Thr Single submitter ⚠
- p.Arg1120Cys Single submitter ⚠
- p.Arg1288Trp Single submitter ⚠
- p.Arg1301Gln Single submitter ⚠
- p.Arg1301Trp Single submitter ⚠
- p.Arg1430Gln Single submitter ⚠
- p.Arg1430Leu Single submitter ⚠
- p.Arg1739Pro Single submitter ⚠
- p.Arg1815His Single submitter ⚠
- p.Arg1815Leu Single submitter ⚠
- p.Arg1857Gln Single submitter ⚠
- p.Arg1857Trp Single submitter ⚠
- p.Arg1879Ser Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg2163Leu Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg480Gln Single submitter ⚠
- p.Arg614Cys Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg725Cys Single submitter ⚠
- p.Arg749Gly Single submitter ⚠
- p.Arg752Trp Single submitter ⚠
- p.Arg800His Single submitter ⚠
- p.Arg850Gln Single submitter ⚠
- p.Arg882Gln Single submitter ⚠
- p.Arg884His Single submitter ⚠
- p.Arg911Cys Single submitter ⚠
- p.Asn1018Lys Single submitter ⚠
- p.Asn1074Ser Single submitter ⚠
- p.Asn1251Tyr Single submitter ⚠
- p.Asn1283Asp Single submitter ⚠
- p.Asn1283Lys Single submitter ⚠
- p.Asn1789Asp Single submitter ⚠
- p.Asn1873Ser Single submitter ⚠
- p.Asn1926His Single submitter ⚠
- p.Asn1970Ser Single submitter ⚠
- p.Asn1992His Single submitter ⚠
- p.Asn1992Lys Single submitter ⚠
- p.Asn2248Ser Single submitter ⚠
- p.Asn2381Lys Single submitter ⚠
- p.Asn2381Tyr Single submitter ⚠
- p.Asn2396Lys Single submitter ⚠
- p.Asn313Ser Single submitter ⚠
- p.Asn582Ser Single submitter ⚠
- p.Asn643His Single submitter ⚠
- p.Asn702Ser Single submitter ⚠
- p.Asn767Ser Single submitter ⚠
- p.Asn786fs Single submitter
- p.Asp1030Glu Single submitter ⚠
- p.Asp1085Tyr Single submitter ⚠
- p.Asp1144Glu Single submitter ⚠
- p.Asp1200Asn Single submitter ⚠
- p.Asp1333Gly Single submitter ⚠
- p.Asp1736Gly Single submitter ⚠
- p.Asp1842Gly Single submitter ⚠
- p.Asp1902Val Single submitter ⚠
- p.Asp1959Glu Single submitter ⚠
- p.Asp1963Glu Single submitter ⚠
- p.Asp1998Tyr Single submitter ⚠
- p.Asp2003Ala Single submitter ⚠
- p.Asp220His Single submitter ⚠
- p.Asp2291Gly Single submitter ⚠
- p.Asp2424Val Single submitter ⚠
- p.Asp30Val Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Asp488Asn Single submitter ⚠
- p.Asp538Asn Single submitter ⚠
- p.Asp557Asn Single submitter ⚠
- p.Asp76Asn Single submitter ⚠
- p.Asp925Asn Single submitter ⚠
- p.Cys1388Gly Single submitter ⚠
- p.Cys1444Trp Single submitter ⚠
- p.Cys1752Tyr Single submitter ⚠
- p.Cys1938Gly Single submitter ⚠
- p.Cys435Tyr Single submitter ⚠
- p.Cys545Gly Single submitter ⚠
- p.Gln1212Arg Single submitter ⚠
- p.Gln1216His Single submitter ⚠
- p.Gln1526Leu Single submitter ⚠
- p.Gln1720His Single submitter ⚠
- p.Gln1824Lys Single submitter ⚠
- p.Gln2134Arg Single submitter ⚠
- p.Gln295Pro Single submitter ⚠
- p.Gln659His Single submitter ⚠
- p.Glu151Lys Single submitter ⚠
- p.Glu1839Lys Single submitter ⚠
- p.Glu2029Gln Single submitter ⚠
- p.Glu2250Gly Single submitter ⚠
- p.Glu2279Lys Single submitter ⚠
- p.Glu2351Lys Single submitter ⚠
- p.Glu2516Asp Single submitter ⚠
- p.Glu2516Val Single submitter ⚠
- p.Glu328Asp Single submitter ⚠
- p.Glu561Gly Single submitter ⚠
- p.Glu594Ala Single submitter ⚠
- p.Glu611Lys Single submitter ⚠
- p.Glu619Val Single submitter ⚠
- p.Glu773Asp Single submitter ⚠
- p.Gly1045Val Single submitter ⚠
- p.Gly106Trp Single submitter ⚠
- p.Gly1101Ala Single submitter ⚠
- p.Gly1223Ser Single submitter ⚠
- p.Gly1398Glu Single submitter ⚠
- p.Gly1401Glu Single submitter ⚠
- p.Gly1437Val Single submitter ⚠
- p.Gly1449Arg Single submitter ⚠
- p.Gly1449Ser Single submitter ⚠
- p.Gly1491Arg Single submitter ⚠
- p.Gly1491Glu Single submitter ⚠
- p.Gly1494Asp Single submitter ⚠
- p.Gly1537Ser Single submitter ⚠
- p.Gly1576Val Single submitter ⚠
- p.Gly1579Arg Single submitter ⚠
- p.Gly1609Ala Single submitter ⚠
- p.Gly1609Asp Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly1659Ser Single submitter ⚠
- p.Gly1683Cys Single submitter ⚠
- p.Gly168Ala Single submitter ⚠
- p.Gly1690Ala Single submitter ⚠
- p.Gly1722Ser Single submitter ⚠
- p.Gly1861Ala Single submitter ⚠
- p.Gly1911Arg Single submitter ⚠
- p.Gly1916Glu Single submitter ⚠
- p.Gly2024Asp Single submitter ⚠
- p.Gly2054Glu Single submitter ⚠
- p.Gly2117Ser Single submitter ⚠
- p.Gly2210Ala Single submitter ⚠
- p.Gly2228Arg Single submitter ⚠
- p.Gly2345Ala Single submitter ⚠
- p.Gly2345Ser Single submitter ⚠
- p.Gly25Asp Single submitter ⚠
- p.Gly325Asp Single submitter ⚠
- p.Gly535Arg Single submitter ⚠
- p.Gly591Val Single submitter ⚠
- p.Gly776Arg Single submitter ⚠
- p.Gly847Val Single submitter ⚠
- p.Gly888Ala Single submitter ⚠
- p.Gly89Val Single submitter ⚠
- p.Gly909Asp Single submitter ⚠
- p.Gly945Ala Single submitter ⚠
- p.His1098Arg Single submitter ⚠
- p.His1149Tyr Single submitter ⚠
- p.His1214Tyr Single submitter ⚠
- p.His1281Tyr Single submitter ⚠
- p.His1478Tyr Single submitter ⚠
- p.His2143Arg Single submitter ⚠
- p.His2489Gln Single submitter ⚠
- p.His832Tyr Single submitter ⚠
- p.His83Arg Single submitter ⚠
- p.Ile1037Val Single submitter ⚠
- p.Ile1201Thr Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile1784Val Single submitter ⚠
- p.Ile1883Val Single submitter ⚠
- p.Ile1921Thr Single submitter ⚠
- p.Ile2386Leu Single submitter ⚠
- p.Ile2394Val Single submitter ⚠
- p.Ile2410Phe Single submitter ⚠
- p.Ile2410Thr Single submitter ⚠
- p.Ile2440Thr Single submitter ⚠
- p.Ile2480Val Single submitter ⚠
- p.Ile261Leu Single submitter ⚠
- p.Ile307Met Single submitter ⚠
- p.Ile393Met Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Ile417Met Single submitter ⚠
- p.Ile443Met Single submitter ⚠
- p.Ile531Val Single submitter ⚠
- p.Ile532Thr Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Ile578Thr Single submitter ⚠
- p.Ile608Lys Single submitter ⚠
- p.Ile667Thr Single submitter ⚠
- p.Leu1133Pro Single submitter ⚠
- p.Leu1271Val Single submitter ⚠
- p.Leu1374Pro Single submitter ⚠
- p.Leu1405Val Single submitter ⚠
- p.Leu1613Ile Single submitter ⚠
- p.Leu1638Val Single submitter ⚠
- p.Leu1907Arg Single submitter ⚠
- p.Leu2213Val Single submitter ⚠
- p.Leu2261Val Single submitter ⚠
- p.Leu2285Pro Single submitter ⚠
- p.Leu237Phe Single submitter ⚠
- p.Leu2404Met Single submitter ⚠
- p.Leu251Val Single submitter ⚠
- p.Leu363Met Single submitter ⚠
- p.Leu654Pro Single submitter ⚠
- p.Leu804Pro Single submitter ⚠
- p.Leu897Phe Single submitter ⚠
- p.Leu97Phe Single submitter ⚠
- p.Leu986Ile Single submitter ⚠
- p.Lys1077Glu Single submitter ⚠
- p.Lys1090Glu Single submitter ⚠
- p.Lys1297Arg Single submitter ⚠
- p.Lys1392Arg Single submitter ⚠
- p.Lys1454Glu Single submitter ⚠
- p.Lys1508Glu Single submitter ⚠
- p.Lys1530Asn Single submitter ⚠
- p.Lys1542Gln Single submitter ⚠
- p.Lys1599Glu Single submitter ⚠
- p.Lys1628Glu Single submitter ⚠
- p.Lys1667Thr Single submitter ⚠
- p.Lys171Gln Single submitter ⚠
- p.Lys1856Arg Single submitter ⚠
- p.Lys1980Arg Single submitter ⚠
- p.Lys2155Arg Single submitter ⚠
- p.Lys2308Asn Single submitter ⚠
- p.Lys2448Arg Single submitter ⚠
- p.Lys675Arg Single submitter ⚠
- p.Lys722Met Single submitter ⚠
- p.Lys754Glu Single submitter ⚠
- p.Lys857Glu Single submitter ⚠
- p.Lys968Arg Single submitter ⚠
- p.Lys98Asn Single submitter ⚠
- p.Met1193Ile Single submitter ⚠
- p.Met2099Ile Single submitter ⚠
- p.Met2290Val Single submitter ⚠
- p.Met2503Val Single submitter ⚠
- p.Met272Leu Single submitter ⚠
- p.Met536Ile Single submitter ⚠
- p.Met625Val Single submitter ⚠
- p.Met833Val Single submitter ⚠
- p.Phe1163Ser Single submitter ⚠
- p.Phe1946Leu Single submitter ⚠
- p.Phe1966Leu Single submitter ⚠
- p.Phe2112Val Single submitter ⚠
- p.Phe2202Tyr Single submitter ⚠
- p.Phe2441Leu Single submitter ⚠
- p.Phe2487Leu Single submitter ⚠
- p.Phe288Cys Single submitter ⚠
- p.Phe409Leu Single submitter ⚠
- p.Phe866Ser Single submitter ⚠
- p.Pro1445Leu Single submitter ⚠
- p.Pro1490Thr Single submitter ⚠
- p.Pro1502His Single submitter ⚠
- p.Pro1635Arg Single submitter ⚠
- p.Pro1730Ser Single submitter ⚠
- p.Pro1753Leu Single submitter ⚠
- p.Pro1753Ser Single submitter ⚠
- p.Pro1896Ser Single submitter ⚠
- p.Pro2171Leu Single submitter ⚠
- p.Pro2354Ser Single submitter ⚠
- p.Pro2486Ala Single submitter ⚠
- p.Pro544Leu Single submitter ⚠
- p.Pro61Thr Single submitter ⚠
- p.Ser1076Phe Single submitter ⚠
- p.Ser1350Gly Single submitter ⚠
- p.Ser1411Cys Single submitter ⚠
- p.Ser143Leu Single submitter ⚠
- p.Ser1549Gly Single submitter ⚠
- p.Ser1553Asn Single submitter ⚠
- p.Ser166Phe Single submitter ⚠
- p.Ser1783Ala Single submitter ⚠
- p.Ser1872Asn Single submitter ⚠
- p.Ser1872Cys Single submitter ⚠
- p.Ser1872Ile Single submitter ⚠
- p.Ser1878Ile Single submitter ⚠
- p.Ser1971Phe Single submitter ⚠
- p.Ser2160Leu Single submitter ⚠
- p.Ser2414Pro Single submitter ⚠
- p.Ser287Tyr Single submitter ⚠
- p.Ser292Asn Single submitter ⚠
- p.Ser37Asn Single submitter ⚠
- p.Ser406Gly Single submitter ⚠
- p.Ser59Asn Single submitter ⚠
- p.Ser872Leu Single submitter ⚠
- p.Thr1575Ile Single submitter ⚠
- p.Thr1851Ser Single submitter ⚠
- p.Thr2224Ala Single submitter ⚠
- p.Thr2224Met Single submitter ⚠
- p.Thr2329Ile Single submitter ⚠
- p.Thr2331Pro Single submitter ⚠
- p.Thr2500Ala Single submitter ⚠
- p.Thr395Lys Single submitter ⚠
- p.Thr433Ser Single submitter ⚠
- p.Thr438Ile Single submitter ⚠
- p.Thr51Met Single submitter ⚠
- p.Thr757Ala Single submitter ⚠
- p.Thr86Ile Single submitter ⚠