UACA — 216 ClinVar variants
All ClinVar germline UACA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →
17 Benign · 21 Likely benign · 178 Uncertain significance
Full UACA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 169
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 133
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UACA p.Ala1060Ser Uncertain significance Single submitter
- UACA p.Ala1248Val Uncertain significance Single submitter
- UACA p.Ala191Val Uncertain significance Single submitter
- UACA p.Ala203Gly Uncertain significance Single submitter
- UACA p.Ala231Thr Uncertain significance Single submitter
- UACA p.Ala338Gly Uncertain significance Single submitter
- UACA p.Ala353Ser Uncertain significance Single submitter
- UACA p.Ala815Asp Uncertain significance Single submitter
- UACA p.Ala843Thr Uncertain significance Single submitter
- UACA p.Ala986Val Uncertain significance Single submitter
- UACA p.Arg1305Gly Uncertain significance Single submitter
- UACA p.Arg1306Ile Uncertain significance Single submitter
- UACA p.Arg1385Gln Uncertain significance Single submitter
- UACA p.Arg450Gln Uncertain significance Single submitter
- UACA p.Arg483Lys Uncertain significance Single submitter
- UACA p.Arg590Gln Uncertain significance Single submitter
- UACA p.Arg693Ser Uncertain significance Single submitter
- UACA p.Arg881Gly Uncertain significance Single submitter
- UACA p.Asn1251His Uncertain significance Single submitter
- UACA p.Asn371Ser Uncertain significance Single submitter
- UACA p.Asn60Ser Uncertain significance Single submitter
- UACA p.Asn80Tyr Uncertain significance Single submitter
- UACA p.Asn857Asp Uncertain significance Single submitter
- UACA p.Asp1007Gly Uncertain significance Single submitter
- UACA p.Asp1066Gly Uncertain significance Single submitter
- UACA p.Asp1225Ala Uncertain significance Single submitter
- UACA p.Asp1357Val Uncertain significance Single submitter
- UACA p.Asp188Gly Uncertain significance Single submitter
- UACA p.Asp30His Uncertain significance Single submitter
- UACA p.Asp340Tyr Uncertain significance Single submitter
- UACA p.Asp544Gly Uncertain significance Single submitter
- UACA p.Asp758Ala Uncertain significance Single submitter
- UACA p.Asp762Gly Uncertain significance Single submitter
- UACA p.Asp885Glu Uncertain significance Single submitter
- UACA p.Asp93Gly Uncertain significance Single submitter
- UACA p.Asp975Asn Uncertain significance Single submitter
- UACA p.Cys1258Arg Uncertain significance Single submitter
- UACA p.Cys1258Phe Uncertain significance Single submitter
- UACA p.Cys183Tyr Uncertain significance Single submitter
- UACA p.Cys453Gly Uncertain significance Single submitter
- UACA p.Cys474Gly Uncertain significance Single submitter
- UACA p.Gln1071Leu Uncertain significance Single submitter
- UACA p.Gln1077Arg Uncertain significance Single submitter
- UACA p.Gln1333Glu Uncertain significance Single submitter
- UACA p.Gln1401Glu Uncertain significance Single submitter
- UACA p.Gln1412Arg Uncertain significance Single submitter
- UACA p.Gln569Arg Uncertain significance Single submitter
- UACA p.Gln978Pro Uncertain significance Single submitter
- UACA p.Glu1022Val Uncertain significance Single submitter
- UACA p.Glu1143Lys Uncertain significance Single submitter
- UACA p.Glu1291Lys Uncertain significance Single submitter
- UACA p.Glu1309Lys Uncertain significance Single submitter
- UACA p.Glu209Lys Uncertain significance Single submitter
- UACA p.Glu308Gly Uncertain significance Single submitter
- UACA p.Glu308Lys Uncertain significance Single submitter
- UACA p.Glu445Gly Uncertain significance Single submitter
- UACA p.Glu530Lys Uncertain significance Single submitter
- UACA p.Glu575Val Uncertain significance Single submitter
- UACA p.Glu921Val Uncertain significance Single submitter
- UACA p.Glu929Lys Uncertain significance Single submitter
- UACA p.Gly157Glu Uncertain significance Single submitter
- UACA p.Gly157Val Uncertain significance Single submitter
- UACA p.Gly223Arg Uncertain significance Single submitter
- UACA p.Gly412Val Uncertain significance Single submitter
- UACA p.Gly45Arg Uncertain significance Single submitter
- UACA p.Gly79Arg Uncertain significance Single submitter
- UACA p.His1111Tyr Uncertain significance Single submitter
- UACA p.His289Gln Uncertain significance Single submitter
- UACA p.Ile1172Val Uncertain significance Single submitter
- UACA p.Ile1182Val Uncertain significance Single submitter
- UACA p.Ile1408Val Uncertain significance Single submitter
- UACA p.Ile182Val Uncertain significance Single submitter
- UACA p.Ile760Val Uncertain significance Single submitter
- UACA p.Ile813Thr Uncertain significance Single submitter
- UACA p.Ile87Val Uncertain significance Single submitter
- UACA p.Ile988Val Uncertain significance Single submitter
- UACA p.Leu105Phe Uncertain significance Single submitter
- UACA p.Leu1075Val Uncertain significance Single submitter
- UACA p.Leu229Val Uncertain significance Single submitter
- UACA p.Leu396Phe Uncertain significance Single submitter
- UACA p.Leu430Ser Uncertain significance Single submitter
- UACA p.Leu650Ile Uncertain significance Single submitter
- UACA p.Leu724Met Uncertain significance Single submitter
- UACA p.Leu729Phe Uncertain significance Single submitter
- UACA p.Leu830Pro Uncertain significance Single submitter
- UACA p.Lys1024Glu Uncertain significance Single submitter
- UACA p.Lys1095Arg Uncertain significance Single submitter
- UACA p.Lys1160Asn Uncertain significance Single submitter
- UACA p.Lys485Glu Uncertain significance Single submitter
- UACA p.Lys552Asn Uncertain significance Single submitter
- UACA p.Met1138Ile Uncertain significance Single submitter
- UACA p.Met1138Val Uncertain significance Single submitter
- UACA p.Met422Ile Uncertain significance Single submitter
- UACA p.Met653Ile Uncertain significance Single submitter
- UACA p.Met854Lys Uncertain significance Single submitter
- UACA p.Met870Ile Uncertain significance Single submitter
- UACA p.Phe577Cys Uncertain significance Single submitter
- UACA p.Phe890Ile Uncertain significance Single submitter
- UACA p.Phe890Ser Uncertain significance Single submitter
- UACA p.Pro270Thr Uncertain significance Single submitter
- UACA p.Pro987Ser Uncertain significance Single submitter
- UACA p.Ser1017Thr Uncertain significance Single submitter
- UACA p.Ser1137Gly Uncertain significance Single submitter
- UACA p.Ser1162Tyr Uncertain significance Single submitter
- UACA p.Ser1186Asn Uncertain significance Single submitter
- UACA p.Ser1206Leu Uncertain significance Single submitter
- UACA p.Ser1353Asn Uncertain significance Single submitter
- UACA p.Ser1365Cys Uncertain significance Single submitter
- UACA p.Ser343Asn Uncertain significance Single submitter
- UACA p.Ser343Gly Uncertain significance Single submitter
- UACA p.Ser378Gly Uncertain significance Single submitter
- UACA p.Ser52Pro Uncertain significance Single submitter
- UACA p.Ser533Leu Uncertain significance Single submitter
- UACA p.Ser793Asn Uncertain significance Single submitter
- UACA p.Ser846Ala Uncertain significance Single submitter
- UACA p.Thr1298Ile Uncertain significance Single submitter
- UACA p.Thr169Ile Uncertain significance Single submitter
- UACA p.Thr278Ile Uncertain significance Single submitter
- UACA p.Thr409Ser Uncertain significance Single submitter
- UACA p.Thr51Ile Uncertain significance Single submitter
- UACA p.Thr610Ile Uncertain significance Single submitter
- UACA p.Thr875Met Uncertain significance Single submitter
- UACA p.Trp266Arg Uncertain significance Single submitter
- UACA p.Tyr775Cys Uncertain significance Single submitter
- UACA p.Tyr953Cys Uncertain significance Single submitter
- UACA p.Val1415Leu Uncertain significance Single submitter
- UACA p.Val172Phe Uncertain significance Single submitter
- UACA p.Val286Gly Uncertain significance Single submitter
- UACA p.Val484Ile Uncertain significance Single submitter
- UACA p.Val551Ile Uncertain significance Single submitter
- UACA p.Val682Leu Uncertain significance Single submitter
- UACA p.Val690Phe Uncertain significance Single submitter
- UACA p.Val92Ile Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- UACA p.Ala1391Val Uncertain significance Single submitter
- UACA p.Ala255Pro Uncertain significance Single submitter
- UACA p.Ala532Pro Uncertain significance Single submitter
- UACA p.Arg1330Ser Uncertain significance Single submitter
- UACA p.Arg1411Trp Uncertain significance Single submitter
- UACA p.Arg372Ile Uncertain significance Single submitter
- UACA p.Arg37Gln Uncertain significance Single submitter
- UACA p.Arg69Thr Uncertain significance Single submitter
- UACA p.Arg798Cys Uncertain significance Single submitter
- UACA p.Asn1069Ile Uncertain significance Single submitter
- UACA p.Asn60Ile Uncertain significance Single submitter
- UACA p.Asn765His Benign Single submitter
- UACA p.Asp1046Gly Uncertain significance Single submitter
- UACA p.Asp340Glu Uncertain significance Single submitter
- UACA p.Asp35Glu Uncertain significance Single submitter
- UACA p.Gln176His Uncertain significance Single submitter
- UACA p.Glu611Lys Uncertain significance Single submitter
- UACA p.Glu810Val Uncertain significance Single submitter
- UACA p.Gly134Arg Uncertain significance Single submitter
- UACA p.His519Arg Uncertain significance Single submitter
- UACA p.Ile1128Ser Uncertain significance Single submitter
- UACA p.Leu1040Phe Uncertain significance Single submitter
- UACA p.Leu1072Ser Uncertain significance Single submitter
- UACA p.Leu64Gln Uncertain significance Single submitter
- UACA p.Leu678Pro Uncertain significance Single submitter
- UACA p.Lys1190Asn Uncertain significance Single submitter
- UACA p.Lys1253Thr Uncertain significance Single submitter
- UACA p.Pro1165His Uncertain significance Single submitter
- UACA p.Pro425Arg Uncertain significance Single submitter
- UACA p.Pro425Leu Uncertain significance Single submitter
- UACA p.Ser1123Cys Uncertain significance Single submitter
- UACA p.Ser455Pro Uncertain significance Single submitter
- UACA p.Thr776Ile Uncertain significance Single submitter
- UACA p.Val216Ile Uncertain significance Single submitter
- UACA p.Val324Phe Uncertain significance Single submitter
-
UACA p.Asp1074Tyr
Benign
No assertion criteria
UACA-related disorder
All UACA variants
Benign 17
- p.Asn765His Single submitter ⚠
- p.Ile820Val Single submitter
- c.79-6T>C No assertion criteria UACA-related disorder
- c.822+5A>G No assertion criteria UACA-related disorder
- p.Asn1336= No assertion criteria UACA-related disorder
- p.Asn325Ser No assertion criteria UACA-related disorder
- p.Asn371= No assertion criteria UACA-related disorder
- p.Asp1074Tyr No assertion criteria UACA-related disorder ⚠
- p.Gln1104= No assertion criteria UACA-related disorder
- p.Glu867= No assertion criteria UACA-related disorder
- p.Ile814Thr No assertion criteria UACA-related disorder
- p.Leu780Met No assertion criteria UACA-related disorder
- p.Met403Val No assertion criteria UACA-related disorder
- p.Ser934Leu No assertion criteria UACA-related disorder
- p.Thr51= No assertion criteria UACA-related disorder
- p.Tyr985= No assertion criteria UACA-related disorder
- p.Val1149= No assertion criteria UACA-related disorder
Likely benign 21
- p.Gln458His Multiple submitters
- p.Asn873Ser Single submitter
- p.Asp1031Glu Single submitter
- p.Ile814Met Single submitter
- p.Lys608Arg Single submitter
- p.Tyr1016Cys Single submitter
- p.Val886Ala Single submitter
- c.213-7del No assertion criteria UACA-related disorder
- c.999+9A>G No assertion criteria UACA-related disorder
- p.Ala108= No assertion criteria UACA-related disorder
- p.Ala621= No assertion criteria UACA-related disorder
- p.Asn1336Ser No assertion criteria UACA-related disorder
- p.Cys1416= No assertion criteria UACA-related disorder
- p.His928= No assertion criteria UACA-related disorder
- p.Ile220= No assertion criteria UACA-related disorder
- p.Leu249= No assertion criteria UACA-related disorder
- p.Leu277= No assertion criteria UACA-related disorder
- p.Val1223= No assertion criteria UACA-related disorder
- p.Val324= No assertion criteria UACA-related disorder
- p.Val898Ile No assertion criteria UACA-related disorder
- p.Val989Ile No assertion criteria UACA-related disorder
Uncertain significance 178
- c.1222-1G>A Single submitter
- p.Ala1060Ser Single submitter ⚠
- p.Ala1248Val Single submitter ⚠
- p.Ala1391Val Single submitter ⚠
- p.Ala144Val Single submitter
- p.Ala191Val Single submitter ⚠
- p.Ala203Gly Single submitter ⚠
- p.Ala231Thr Single submitter ⚠
- p.Ala255Pro Single submitter ⚠
- p.Ala338Gly Single submitter ⚠
- p.Ala353Ser Single submitter ⚠
- p.Ala532Pro Single submitter ⚠
- p.Ala815Asp Single submitter ⚠
- p.Ala843Thr Single submitter ⚠
- p.Ala986Val Single submitter ⚠
- p.Arg1305Gly Single submitter ⚠
- p.Arg1306Ile Single submitter ⚠
- p.Arg1330Ser Single submitter ⚠
- p.Arg1385Gln Single submitter ⚠
- p.Arg1411Trp Single submitter ⚠
- p.Arg196Gly Single submitter
- p.Arg372Ile Single submitter ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg450Gln Single submitter ⚠
- p.Arg483Lys Single submitter ⚠
- p.Arg590Gln Single submitter ⚠
- p.Arg693Ser Single submitter ⚠
- p.Arg69Thr Single submitter ⚠
- p.Arg798Cys Single submitter ⚠
- p.Arg881Gly Single submitter ⚠
- p.Asn1069Ile Single submitter ⚠
- p.Asn1251His Single submitter ⚠
- p.Asn371Ser Single submitter ⚠
- p.Asn60Ile Single submitter ⚠
- p.Asn60Ser Single submitter ⚠
- p.Asn80Tyr Single submitter ⚠
- p.Asn857Asp Single submitter ⚠
- p.Asp1007Gly Single submitter ⚠
- p.Asp1046Gly Single submitter ⚠
- p.Asp1066Gly Single submitter ⚠
- p.Asp1225Ala Single submitter ⚠
- p.Asp1357Val Single submitter ⚠
- p.Asp188Gly Single submitter ⚠
- p.Asp30His Single submitter ⚠
- p.Asp340Glu Single submitter ⚠
- p.Asp340Tyr Single submitter ⚠
- p.Asp35Glu Single submitter ⚠
- p.Asp36Asn Single submitter
- p.Asp544Gly Single submitter ⚠
- p.Asp758Ala Single submitter ⚠
- p.Asp762Gly Single submitter ⚠
- p.Asp885Glu Single submitter ⚠
- p.Asp93Gly Single submitter ⚠
- p.Asp975Asn Single submitter ⚠
- p.Cys1258Arg Single submitter ⚠
- p.Cys1258Phe Single submitter ⚠
- p.Cys183Tyr Single submitter ⚠
- p.Cys453Gly Single submitter ⚠
- p.Cys474Gly Single submitter ⚠
- p.Gln1071Leu Single submitter ⚠
- p.Gln1077Arg Single submitter ⚠
- p.Gln1333Glu Single submitter ⚠
- p.Gln1401Glu Single submitter ⚠
- p.Gln1412Arg Single submitter ⚠
- p.Gln176His Single submitter ⚠
- p.Gln491Arg Single submitter
- p.Gln569Arg Single submitter ⚠
- p.Gln978Pro Single submitter ⚠
- p.Glu1022Val Single submitter ⚠
- p.Glu1143Lys Single submitter ⚠
- p.Glu1291Lys Single submitter ⚠
- p.Glu1309Lys Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Glu308Gly Single submitter ⚠
- p.Glu308Lys Single submitter ⚠
- p.Glu445Gly Single submitter ⚠
- p.Glu530Lys Single submitter ⚠
- p.Glu575Val Single submitter ⚠
- p.Glu611Lys Single submitter ⚠
- p.Glu810Val Single submitter ⚠
- p.Glu921Val Single submitter ⚠
- p.Glu929Lys Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.Gly157Glu Single submitter ⚠
- p.Gly157Val Single submitter ⚠
- p.Gly223Arg Single submitter ⚠
- p.Gly412Val Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.Gly79Arg Single submitter ⚠
- p.His1111Tyr Single submitter ⚠
- p.His289Gln Single submitter ⚠
- p.His519Arg Single submitter ⚠
- p.Ile1128Ser Single submitter ⚠
- p.Ile1172Val Single submitter ⚠
- p.Ile1182Val Single submitter ⚠
- p.Ile1408Val Single submitter ⚠
- p.Ile182Thr Single submitter
- p.Ile182Val Single submitter ⚠
- p.Ile760Val Single submitter ⚠
- p.Ile813Thr Single submitter ⚠
- p.Ile87Val Single submitter ⚠
- p.Ile988Val Single submitter ⚠
- p.Leu1040Phe Single submitter ⚠
- p.Leu105Phe Single submitter ⚠
- p.Leu1072Ser Single submitter ⚠
- p.Leu1075Val Single submitter ⚠
- p.Leu1325Arg Single submitter
- p.Leu229Val Single submitter ⚠
- p.Leu396Phe Single submitter ⚠
- p.Leu426Pro Single submitter
- p.Leu430Ser Single submitter ⚠
- p.Leu64Gln Single submitter ⚠
- p.Leu650Ile Single submitter ⚠
- p.Leu678Pro Single submitter ⚠
- p.Leu724Met Single submitter ⚠
- p.Leu729Phe Single submitter ⚠
- p.Leu830Pro Single submitter ⚠
- p.Lys1024Glu Single submitter ⚠
- p.Lys1095Arg Single submitter ⚠
- p.Lys1160Asn Single submitter ⚠
- p.Lys1190Asn Single submitter ⚠
- p.Lys1253Thr Single submitter ⚠
- p.Lys485Glu Single submitter ⚠
- p.Lys552Asn Single submitter ⚠
- p.Met1138Ile Single submitter ⚠
- p.Met1138Val Single submitter ⚠
- p.Met422Ile Single submitter ⚠
- p.Met653Ile Single submitter ⚠
- p.Met854Lys Single submitter ⚠
- p.Met870Ile Single submitter ⚠
- p.Phe577Cys Single submitter ⚠
- p.Phe890Ile Single submitter ⚠
- p.Phe890Ser Single submitter ⚠
- p.Pro1165His Single submitter ⚠
- p.Pro270Thr Single submitter ⚠
- p.Pro425Arg Single submitter ⚠
- p.Pro425Leu Single submitter ⚠
- p.Pro987Ser Single submitter ⚠
- p.Ser1017Thr Single submitter ⚠
- p.Ser1123Cys Single submitter ⚠
- p.Ser1137Gly Single submitter ⚠
- p.Ser1162Tyr Single submitter ⚠
- p.Ser1186Asn Single submitter ⚠
- p.Ser1206Leu Single submitter ⚠
- p.Ser1353Asn Single submitter ⚠
- p.Ser1365Cys Single submitter ⚠
- p.Ser343Asn Single submitter ⚠
- p.Ser343Gly Single submitter ⚠
- p.Ser378Gly Single submitter ⚠
- p.Ser455Pro Single submitter ⚠
- p.Ser52Pro Single submitter ⚠
- p.Ser533Leu Single submitter ⚠
- p.Ser793Asn Single submitter ⚠
- p.Ser846Ala Single submitter ⚠
- p.Thr1298Ile Single submitter ⚠
- p.Thr1299Ile Single submitter
- p.Thr169Ile Single submitter ⚠
- p.Thr278Ile Single submitter ⚠
- p.Thr409Ser Single submitter ⚠
- p.Thr51Ile Single submitter ⚠
- p.Thr610Ile Single submitter ⚠
- p.Thr776Ile Single submitter ⚠
- p.Thr875Met Single submitter ⚠
- p.Trp266Arg Single submitter ⚠
- p.Tyr1229Ter Single submitter
- p.Tyr775Cys Single submitter ⚠
- p.Tyr953Cys Single submitter ⚠
- p.Val1415Leu Single submitter ⚠
- p.Val172Phe Single submitter ⚠
- p.Val216Ile Single submitter ⚠
- p.Val286Gly Single submitter ⚠
- p.Val324Phe Single submitter ⚠
- p.Val484Ile Single submitter ⚠
- p.Val551Ile Single submitter ⚠
- p.Val59Phe Single submitter
- p.Val682Leu Single submitter ⚠
- p.Val690Phe Single submitter ⚠
- p.Val92Ile Single submitter ⚠