SHROOM3 — 441 ClinVar variants
All ClinVar germline SHROOM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 297 flagged for review →
3 Conflicting · 39 Benign · 2 Benign/Likely benign · 92 Likely benign · 305 Uncertain significance
Full SHROOM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 297
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 270
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 270
- SHROOM3 p.Arg148Trp Uncertain significance Multiple submitters
- SHROOM3 p.Ala1002Thr Uncertain significance Single submitter
- SHROOM3 p.Ala1055Thr Uncertain significance Single submitter
- SHROOM3 p.Ala1085Thr Uncertain significance Single submitter
- SHROOM3 p.Ala1085Val Uncertain significance Single submitter
- SHROOM3 p.Ala1101Thr Uncertain significance Single submitter
- SHROOM3 p.Ala1119Thr Uncertain significance Single submitter
- SHROOM3 p.Ala1127Ser Uncertain significance Single submitter
- SHROOM3 p.Ala1134Asp Uncertain significance Single submitter
- SHROOM3 p.Ala1161Thr Uncertain significance Single submitter
- SHROOM3 p.Ala1233Val Uncertain significance Single submitter
- SHROOM3 p.Ala1271Gly Uncertain significance Single submitter
- SHROOM3 p.Ala140Thr Uncertain significance Single submitter
- SHROOM3 p.Ala1478Asp Uncertain significance Single submitter
- SHROOM3 p.Ala1478Val Uncertain significance Single submitter
- SHROOM3 p.Ala20Asp Uncertain significance Single submitter
- SHROOM3 p.Ala30Thr Uncertain significance Single submitter
- SHROOM3 p.Ala393Thr Uncertain significance Single submitter
- SHROOM3 p.Ala507Thr Uncertain significance Single submitter
- SHROOM3 p.Ala661Asp Uncertain significance Single submitter
- SHROOM3 p.Ala696Ser Uncertain significance Single submitter
- SHROOM3 p.Ala72Ser Uncertain significance Single submitter
- SHROOM3 p.Ala768Val Uncertain significance Single submitter
- SHROOM3 p.Ala883Thr Uncertain significance Single submitter
- SHROOM3 p.Ala950Val Uncertain significance Single submitter
- SHROOM3 p.Ala977Pro Uncertain significance Single submitter
- SHROOM3 p.Ala977Val Uncertain significance Single submitter
- SHROOM3 p.Arg103Lys Uncertain significance Single submitter
- SHROOM3 p.Arg1063His Uncertain significance Single submitter
- SHROOM3 p.Arg1150His Uncertain significance Single submitter
- SHROOM3 p.Arg1170Cys Uncertain significance Single submitter
- SHROOM3 p.Arg1179His Uncertain significance Single submitter
- SHROOM3 p.Arg1298His Uncertain significance Single submitter
- SHROOM3 p.Arg1347Lys Uncertain significance Single submitter
- SHROOM3 p.Arg1495Trp Uncertain significance Single submitter
- SHROOM3 p.Arg153His Uncertain significance Single submitter
- SHROOM3 p.Arg1892Gln Uncertain significance Single submitter
- SHROOM3 p.Arg212Gln Uncertain significance Single submitter
- SHROOM3 p.Arg212Trp Uncertain significance Single submitter
- SHROOM3 p.Arg256Lys Uncertain significance Single submitter
- SHROOM3 p.Arg280Trp Uncertain significance Single submitter
- SHROOM3 p.Arg282His Uncertain significance Single submitter
- SHROOM3 p.Arg305Cys Uncertain significance Single submitter
- SHROOM3 p.Arg314Gln Uncertain significance Single submitter
- SHROOM3 p.Arg315Thr Uncertain significance Single submitter
- SHROOM3 p.Arg333Gly Uncertain significance Single submitter
- SHROOM3 p.Arg352Trp Uncertain significance Single submitter
- SHROOM3 p.Arg396Trp Uncertain significance Single submitter
- SHROOM3 p.Arg398Cys Uncertain significance Single submitter
- SHROOM3 p.Arg398His Uncertain significance Single submitter
- SHROOM3 p.Arg411Trp Uncertain significance Single submitter
- SHROOM3 p.Arg414Trp Uncertain significance Single submitter
- SHROOM3 p.Arg621Gly Uncertain significance Single submitter
- SHROOM3 p.Arg682Gln Uncertain significance Single submitter
- SHROOM3 p.Arg706Lys Uncertain significance Single submitter
- SHROOM3 p.Arg758Gln Uncertain significance Single submitter
- SHROOM3 p.Arg758Trp Uncertain significance Single submitter
- SHROOM3 p.Arg876Cys Uncertain significance Single submitter
- SHROOM3 p.Arg884Gly Uncertain significance Single submitter
- SHROOM3 p.Arg944Pro Uncertain significance Single submitter
- SHROOM3 p.Arg969Gln Uncertain significance Single submitter
- SHROOM3 p.Arg983Gln Uncertain significance Single submitter
- SHROOM3 p.Arg985Gln Uncertain significance Single submitter
- SHROOM3 p.Arg997Ser Uncertain significance Single submitter
- SHROOM3 p.Asn1045Ser Uncertain significance Single submitter
- SHROOM3 p.Asn1453Asp Uncertain significance Single submitter
- SHROOM3 p.Asn1572His Uncertain significance Single submitter
- SHROOM3 p.Asn204His Uncertain significance Single submitter
- SHROOM3 p.Asn204Lys Uncertain significance Single submitter
- SHROOM3 p.Asn488Ser Uncertain significance Single submitter
- SHROOM3 p.Asn517His Uncertain significance Single submitter
- SHROOM3 p.Asn517Ser Uncertain significance Single submitter
- SHROOM3 p.Asn581Tyr Uncertain significance Single submitter
- SHROOM3 p.Asn635Tyr Uncertain significance Single submitter
- SHROOM3 p.Asn736Ser Uncertain significance Single submitter
- SHROOM3 p.Asn808Ser Uncertain significance Single submitter
- SHROOM3 p.Asn823Ser Uncertain significance Single submitter
- SHROOM3 p.Asn850Ser Uncertain significance Single submitter
- SHROOM3 p.Asp1088Tyr Uncertain significance Single submitter
- SHROOM3 p.Asp1471Ala Uncertain significance Single submitter
- SHROOM3 p.Asp1473Asn Uncertain significance Single submitter
- SHROOM3 p.Asp1544Tyr Uncertain significance Single submitter
- SHROOM3 p.Asp1689Ala Uncertain significance Single submitter
- SHROOM3 p.Asp1689Asn Uncertain significance Single submitter
- SHROOM3 p.Asp1868Gly Uncertain significance Single submitter
- SHROOM3 p.Asp206Asn Uncertain significance Single submitter
- SHROOM3 p.Asp312Asn Uncertain significance Single submitter
- SHROOM3 p.Asp717His Uncertain significance Single submitter
- SHROOM3 p.Asp917Gly Uncertain significance Single submitter
- SHROOM3 p.Asp930Glu Uncertain significance Single submitter
- SHROOM3 p.Cys1280Phe Uncertain significance Single submitter
- SHROOM3 p.Cys1555Arg Uncertain significance Single submitter
- SHROOM3 p.Cys1729Tyr Uncertain significance Single submitter
- SHROOM3 p.Cys365Tyr Uncertain significance Single submitter
- SHROOM3 p.Cys413Arg Uncertain significance Single submitter
- SHROOM3 p.Cys695Arg Uncertain significance Single submitter
- SHROOM3 p.Gln1043Glu Uncertain significance Single submitter
- SHROOM3 p.Gln1117Arg Uncertain significance Single submitter
- SHROOM3 p.Gln1369Arg Uncertain significance Single submitter
- SHROOM3 p.Gln1461Arg Uncertain significance Single submitter
- SHROOM3 p.Gln431Glu Uncertain significance Single submitter
- SHROOM3 p.Gln685His Uncertain significance Single submitter
- SHROOM3 p.Gln846Glu Uncertain significance Single submitter
- SHROOM3 p.Gln889Glu Uncertain significance Single submitter
- SHROOM3 p.Glu1062Lys Uncertain significance Single submitter
- SHROOM3 p.Glu1114Lys Uncertain significance Single submitter
- SHROOM3 p.Glu1208Asp Uncertain significance Single submitter
- SHROOM3 p.Glu1524Gly Uncertain significance Single submitter
- SHROOM3 p.Glu1735Gly Uncertain significance Single submitter
- SHROOM3 p.Glu1824Lys Uncertain significance Single submitter
- SHROOM3 p.Glu297Ala Uncertain significance Single submitter
- SHROOM3 p.Glu566Asp Uncertain significance Single submitter
- SHROOM3 p.Glu567Lys Uncertain significance Single submitter
- SHROOM3 p.Glu624Asp Uncertain significance Single submitter
- SHROOM3 p.Glu627Lys Uncertain significance Single submitter
- SHROOM3 p.Glu686Gln Uncertain significance Single submitter
- SHROOM3 p.Glu743Gly Uncertain significance Single submitter
- SHROOM3 p.Glu897Asp Uncertain significance Single submitter
- SHROOM3 p.Gly1041Cys Uncertain significance Single submitter
- SHROOM3 p.Gly1046Arg Uncertain significance Single submitter
- SHROOM3 p.Gly1186Arg Uncertain significance Single submitter
- SHROOM3 p.Gly1191Arg Uncertain significance Single submitter
- SHROOM3 p.Gly1194Asp Uncertain significance Single submitter
- SHROOM3 p.Gly1195Glu Uncertain significance Single submitter
- SHROOM3 p.Gly1234Asp Uncertain significance Single submitter
- SHROOM3 p.Gly1262Val Uncertain significance Single submitter
- SHROOM3 p.Gly1284Asp Uncertain significance Single submitter
- SHROOM3 p.Gly1300Asp Uncertain significance Single submitter
- SHROOM3 p.Gly1318Val Uncertain significance Single submitter
- SHROOM3 p.Gly1402Cys Uncertain significance Single submitter
- SHROOM3 p.Gly1593Ser Uncertain significance Single submitter
- SHROOM3 p.Gly1965Arg Uncertain significance Single submitter
- SHROOM3 p.Gly23Glu Uncertain significance Single submitter
- SHROOM3 p.Gly353Asp Uncertain significance Single submitter
- SHROOM3 p.Gly421Ser Uncertain significance Single submitter
- SHROOM3 p.Gly489Ser Uncertain significance Single submitter
- SHROOM3 p.Gly687Asp Uncertain significance Single submitter
- SHROOM3 p.Gly690Arg Uncertain significance Single submitter
- SHROOM3 p.Gly762Cys Uncertain significance Single submitter
- SHROOM3 p.Gly842Asp Uncertain significance Single submitter
- SHROOM3 p.Gly937Arg Uncertain significance Single submitter
- SHROOM3 p.His1294Arg Uncertain significance Single submitter
- SHROOM3 p.His136Tyr Uncertain significance Single submitter
- SHROOM3 p.His1677Tyr Uncertain significance Single submitter
- SHROOM3 p.His1792Arg Uncertain significance Single submitter
- SHROOM3 p.His274Gln Uncertain significance Single submitter
- SHROOM3 p.His274Tyr Uncertain significance Single submitter
- SHROOM3 p.His450Gln Uncertain significance Single submitter
- SHROOM3 p.His558Arg Uncertain significance Single submitter
- SHROOM3 p.His715Asn Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- SHROOM3 p.Val1054Met Benign Multiple submitters
- SHROOM3 p.Ala1800Val Uncertain significance Single submitter
- SHROOM3 p.Arg1115Gly Uncertain significance Single submitter
- SHROOM3 p.Arg1892Trp Uncertain significance Single submitter
- SHROOM3 p.Arg985Trp Uncertain significance Single submitter
- SHROOM3 p.Asn80Ser Uncertain significance Single submitter
- SHROOM3 p.Asp1056Val Uncertain significance Single submitter
- SHROOM3 p.Gly1839Arg Uncertain significance Single submitter
- SHROOM3 p.His78Pro Uncertain significance Single submitter
- SHROOM3 p.Ile668Thr Uncertain significance Single submitter
- SHROOM3 p.Leu1060Pro Uncertain significance Single submitter
- SHROOM3 p.Leu1671Val Uncertain significance Single submitter
- SHROOM3 p.Leu1760Arg Uncertain significance Single submitter
- SHROOM3 p.Lys1756Thr Uncertain significance Single submitter
- SHROOM3 p.Phe1831Cys Uncertain significance Single submitter
- SHROOM3 p.Ser1490Pro Uncertain significance Single submitter
- SHROOM3 p.Ser1876Pro Uncertain significance Single submitter
- SHROOM3 p.Ser1929Pro Uncertain significance Single submitter
- SHROOM3 p.Ser443Arg Uncertain significance Single submitter
- SHROOM3 p.Ser933Pro Uncertain significance Single submitter
- SHROOM3 p.Thr939Ala Uncertain significance Single submitter
- SHROOM3 p.Thr939Ile Uncertain significance Single submitter
- SHROOM3 p.Tyr25Cys Uncertain significance Single submitter
- SHROOM3 p.Val106Leu Likely benign Single submitter
All SHROOM3 variants
Conflicting classifications of pathogenicity 3
- p.Asp1187His Single submitter ⚠
- p.Glu645Asp Single submitter ⚠
- p.Glu645Gly Single submitter ⚠
Benign 39
- c.168+119C>A Multiple submitters
- c.3753+183T>C Multiple submitters
- c.4710-44T>C Multiple submitters
- c.587+131T>C Multiple submitters
- p.Ala1557Val Multiple submitters
- p.Ala613= Multiple submitters
- p.Ala72= Multiple submitters
- p.Arg1430Gln Multiple submitters
- p.Asn1972Asp Multiple submitters
- p.Asp408= Multiple submitters
- p.Gly279Ala Multiple submitters
- p.Gly60Val Multiple submitters
- p.Leu147His Multiple submitters
- p.Leu995= Multiple submitters
- p.Pro1290Leu Multiple submitters
- p.Pro1498= Multiple submitters
- p.Pro469Ala Multiple submitters
- p.Ser325Ala Multiple submitters
- p.Ser765= Multiple submitters
- p.Ser974= Multiple submitters
- p.Thr1481Pro Multiple submitters
- p.Val1054Met Multiple submitters ⚠
- c.168+11474G>A Single submitter
- c.168+118_168+119insT Single submitter
- c.168+124_168+125insAAA Single submitter
- c.168+125G>T Single submitter
- c.168+155G>T Single submitter
- c.168+219T>C Single submitter
- c.4710-217A>G Single submitter
- c.4710-44_4710-43insCTC Single submitter
- c.5198+253C>T Single submitter
- c.5623-172T>C Single submitter
- p.Pro1534= Single submitter
- c.-8T>A No assertion criteria SHROOM3-related disorder
- p.Gly186Arg No assertion criteria SHROOM3-related disorder
- p.His207Tyr No assertion criteria SHROOM3-related disorder
- p.Ser1131= No assertion criteria SHROOM3-related disorder
- p.Ser933= No assertion criteria SHROOM3-related disorder
- p.Val1054Leu No assertion criteria SHROOM3-related disorder
Benign/Likely benign 2
- p.Gln1164= Multiple submitters
- p.Met1585Lys Multiple submitters
Likely benign 92
- p.Ala1158= Multiple submitters
- p.Arg718Gln Multiple submitters
- p.Gln1558Pro Multiple submitters
- p.Leu756= Multiple submitters
- c.455+20G>A Single submitter
- c.4710-15A>T Single submitter
- p.Ala1003= Single submitter
- p.Ala1134Thr Single submitter
- p.Ala456= Single submitter
- p.Ala701= Single submitter
- p.Arg107= Single submitter
- p.Arg1250His Single submitter
- p.Arg1495Gln Single submitter
- p.Arg305His Single submitter
- p.Arg352Gln Single submitter
- p.Arg758= Single submitter
- p.Arg833His Single submitter
- p.Arg900Lys Single submitter
- p.Asn1708= Single submitter
- p.Asn586Ile Single submitter
- p.Asn586Ser Single submitter
- p.Asn850= Single submitter
- p.Asp1406Asn Single submitter
- p.Asp1506= Single submitter
- p.Gln216Arg Single submitter
- p.Gln363Arg Single submitter
- p.Gln71= Single submitter
- p.Gln861= Single submitter
- p.Glu1507Lys Single submitter
- p.Glu47= Single submitter
- p.Glu564Ala Single submitter
- p.Gly1407Ser Single submitter
- p.Gly1864Asp Single submitter
- p.Gly244Ser Single submitter
- p.Gly762Ser Single submitter
- p.Gly869Arg Single submitter
- p.His601Tyr Single submitter
- p.Leu1133= Single submitter
- p.Leu32Pro Single submitter
- p.Leu420Ser Single submitter
- p.Leu66Val Single submitter
- p.Met1585Val Single submitter
- p.Met490Thr Single submitter
- p.Phe263= Single submitter
- p.Pro1290= Single submitter
- p.Pro1379= Single submitter
- p.Pro1398Ser Single submitter
- p.Pro1513Leu Single submitter
- p.Pro1530= Single submitter
- p.Pro1531= Single submitter
- p.Pro1534Leu Single submitter
- p.Pro1539Leu Single submitter
- p.Pro1615= Single submitter
- p.Pro469= Single submitter
- p.Pro504= Single submitter
- p.Pro745= Single submitter
- p.Pro840= Single submitter
- p.Pro902Ala Single submitter
- p.Ser1138= Single submitter
- p.Ser1823= Single submitter
- p.Ser1863= Single submitter
- p.Ser593Gly Single submitter
- p.Ser956= Single submitter
- p.Thr1012Asn Single submitter
- p.Thr1246Ala Single submitter
- p.Thr1339= Single submitter
- p.Thr1339Met Single submitter
- p.Thr1416Met Single submitter
- p.Thr1806Met Single submitter
- p.Thr1991Ala Single submitter
- p.Thr684= Single submitter
- p.Thr83Ala Single submitter
- p.Tyr1878= Single submitter
- p.Tyr272= Single submitter
- p.Val106Leu Single submitter ⚠
- p.Val125Ile Single submitter
- p.Val356Ala Single submitter
- p.Pro1534= No assertion criteria SHROOM3-related disorder
- p.Ala1175= No assertion criteria SHROOM3-related disorder
- p.Arg969Trp No assertion criteria SHROOM3-related disorder
- p.Glu1129Lys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Gly421= No assertion criteria SHROOM3-related disorder
- p.Pro1527= No assertion criteria SHROOM3-related disorder
- p.Pro1532= No assertion criteria SHROOM3-related disorder
- p.Pro233Thr No assertion criteria SHROOM3-related disorder
- p.Pro471= No assertion criteria SHROOM3-related disorder
- p.Pro881= No assertion criteria SHROOM3-related disorder
- p.Ser367Arg No assertion criteria SHROOM3-related disorder
- p.Ser754= No assertion criteria SHROOM3-related disorder
- p.Ser976= No assertion criteria SHROOM3-related disorder
- p.Thr373= No assertion criteria SHROOM3-related disorder
- p.Thr814= No assertion criteria SHROOM3-related disorder
Uncertain significance 305
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg148Trp Multiple submitters ⚠
- p.Arg1936Gln Multiple submitters
- c.323+1G>A Single submitter neural tube defect
- p.Ala1002Thr Single submitter ⚠
- p.Ala1055Thr Single submitter ⚠
- p.Ala1085Thr Single submitter ⚠
- p.Ala1085Val Single submitter ⚠
- p.Ala1101Thr Single submitter ⚠
- p.Ala1119Thr Single submitter ⚠
- p.Ala1127Ser Single submitter ⚠
- p.Ala1134Asp Single submitter ⚠
- p.Ala1161Thr Single submitter ⚠
- p.Ala1233Val Single submitter ⚠
- p.Ala1271Gly Single submitter ⚠
- p.Ala140Thr Single submitter ⚠
- p.Ala1478Asp Single submitter ⚠
- p.Ala1478Val Single submitter ⚠
- p.Ala1800Val Single submitter ⚠
- p.Ala20Asp Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala393Thr Single submitter ⚠
- p.Ala507Thr Single submitter ⚠
- p.Ala661Asp Single submitter ⚠
- p.Ala696Ser Single submitter ⚠
- p.Ala72Ser Single submitter ⚠
- p.Ala768Val Single submitter ⚠
- p.Ala883Thr Single submitter ⚠
- p.Ala931Ser Single submitter
- p.Ala950Val Single submitter ⚠
- p.Ala977Pro Single submitter ⚠
- p.Ala977Val Single submitter ⚠
- p.Arg1008His Single submitter
- p.Arg103Lys Single submitter ⚠
- p.Arg1063His Single submitter ⚠
- p.Arg1063Pro Single submitter
- p.Arg107Cys Single submitter
- p.Arg1115Gly Single submitter ⚠
- p.Arg1150His Single submitter ⚠
- p.Arg1170Cys Single submitter ⚠
- p.Arg1179His Single submitter ⚠
- p.Arg1298His Single submitter ⚠
- p.Arg1347Lys Single submitter ⚠
- p.Arg1495Trp Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg1892Gln Single submitter ⚠
- p.Arg1892Trp Single submitter ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg256Lys Single submitter ⚠
- p.Arg280Trp Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg315Thr Single submitter ⚠
- p.Arg333Gly Single submitter ⚠
- p.Arg352Trp Single submitter ⚠
- p.Arg396Trp Single submitter ⚠
- p.Arg398Cys Single submitter ⚠
- p.Arg398His Single submitter ⚠
- p.Arg411Trp Single submitter ⚠
- p.Arg414Trp Single submitter ⚠
- p.Arg621Gly Single submitter ⚠
- p.Arg682Gln Single submitter ⚠
- p.Arg706Lys Single submitter ⚠
- p.Arg758Gln Single submitter ⚠
- p.Arg758Trp Single submitter ⚠
- p.Arg876Cys Single submitter ⚠
- p.Arg884Gly Single submitter ⚠
- p.Arg934Gly Single submitter
- p.Arg944Pro Single submitter ⚠
- p.Arg969Gln Single submitter ⚠
- p.Arg983Gln Single submitter ⚠
- p.Arg985Gln Single submitter ⚠
- p.Arg985Trp Single submitter ⚠
- p.Arg997Ser Single submitter ⚠
- p.Asn1045Ser Single submitter ⚠
- p.Asn1453Asp Single submitter ⚠
- p.Asn1572His Single submitter ⚠
- p.Asn204His Single submitter ⚠
- p.Asn204Lys Single submitter ⚠
- p.Asn488Ser Single submitter ⚠
- p.Asn517His Single submitter ⚠
- p.Asn517Ser Single submitter ⚠
- p.Asn581Tyr Single submitter ⚠
- p.Asn635Tyr Single submitter ⚠
- p.Asn736Ser Single submitter ⚠
- p.Asn808Ser Single submitter ⚠
- p.Asn80Ser Single submitter ⚠
- p.Asn823Ser Single submitter ⚠
- p.Asn850Ser Single submitter ⚠
- p.Asp1056Val Single submitter ⚠
- p.Asp1088Tyr Single submitter ⚠
- p.Asp1471Ala Single submitter ⚠
- p.Asp1473Asn Single submitter ⚠
- p.Asp1544Tyr Single submitter ⚠
- p.Asp1689Ala Single submitter ⚠
- p.Asp1689Asn Single submitter ⚠
- p.Asp1868Gly Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Asp312Asn Single submitter ⚠
- p.Asp717His Single submitter ⚠
- p.Asp917Gly Single submitter ⚠
- p.Asp930Glu Single submitter ⚠
- p.Cys1280Phe Single submitter ⚠
- p.Cys1555Arg Single submitter ⚠
- p.Cys1729Tyr Single submitter ⚠
- p.Cys365Tyr Single submitter ⚠
- p.Cys413Arg Single submitter ⚠
- p.Cys695Arg Single submitter ⚠
- p.Gln1043Glu Single submitter ⚠
- p.Gln1117Arg Single submitter ⚠
- p.Gln1369Arg Single submitter ⚠
- p.Gln1461Arg Single submitter ⚠
- p.Gln1887Glu Single submitter
- p.Gln431Glu Single submitter ⚠
- p.Gln685His Single submitter ⚠
- p.Gln846Glu Single submitter ⚠
- p.Gln889Glu Single submitter ⚠
- p.Glu1014Lys Single submitter
- p.Glu1062Lys Single submitter ⚠
- p.Glu1114Lys Single submitter ⚠
- p.Glu1208Asp Single submitter ⚠
- p.Glu1524Gly Single submitter ⚠
- p.Glu1735Gly Single submitter ⚠
- p.Glu1824Lys Single submitter ⚠
- p.Glu1873Asp Single submitter
- p.Glu297Ala Single submitter ⚠
- p.Glu566Asp Single submitter ⚠
- p.Glu567Lys Single submitter ⚠
- p.Glu624Asp Single submitter ⚠
- p.Glu627Lys Single submitter ⚠
- p.Glu686Gln Single submitter ⚠
- p.Glu743Gly Single submitter ⚠
- p.Glu897Asp Single submitter ⚠
- p.Gly1041Cys Single submitter ⚠
- p.Gly1046Arg Single submitter ⚠
- p.Gly1186Arg Single submitter ⚠
- p.Gly1191Arg Single submitter ⚠
- p.Gly1194Asp Single submitter ⚠
- p.Gly1195Glu Single submitter ⚠
- p.Gly1234Asp Single submitter ⚠
- p.Gly1262Val Single submitter ⚠
- p.Gly1284Asp Single submitter ⚠
- p.Gly1300Asp Single submitter ⚠
- p.Gly1318Val Single submitter ⚠
- p.Gly1402Cys Single submitter ⚠
- p.Gly1593Ser Single submitter ⚠
- p.Gly1839Arg Single submitter ⚠
- p.Gly1965Arg Single submitter ⚠
- p.Gly23Glu Single submitter ⚠
- p.Gly353Asp Single submitter ⚠
- p.Gly421Ser Single submitter ⚠
- p.Gly489Ser Single submitter ⚠
- p.Gly687Asp Single submitter ⚠
- p.Gly690Arg Single submitter ⚠
- p.Gly762Cys Single submitter ⚠
- p.Gly842Asp Single submitter ⚠
- p.Gly937Arg Single submitter ⚠
- p.His1294Arg Single submitter ⚠
- p.His136Tyr Single submitter ⚠
- p.His1677Tyr Single submitter ⚠
- p.His1792Arg Single submitter ⚠
- p.His274Gln Single submitter ⚠
- p.His274Tyr Single submitter ⚠
- p.His450Gln Single submitter ⚠
- p.His558Arg Single submitter ⚠
- p.His715Asn Single submitter ⚠
- p.His778Arg Single submitter ⚠
- p.His78Pro Single submitter ⚠
- p.Ile1090Leu Single submitter ⚠
- p.Ile1354Thr Single submitter ⚠
- p.Ile1489Val Single submitter ⚠
- p.Ile1720Val Single submitter ⚠
- p.Ile185Val Single submitter ⚠
- p.Ile1883Thr Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Ile668Thr Single submitter ⚠
- p.Ile668Val Single submitter ⚠
- p.Leu1060Pro Single submitter ⚠
- p.Leu1121Phe Single submitter ⚠
- p.Leu1133Phe Single submitter ⚠
- p.Leu1295Val Single submitter ⚠
- p.Leu1320Gln Single submitter ⚠
- p.Leu1378Phe Single submitter ⚠
- p.Leu1463His Single submitter ⚠
- p.Leu1463Val Single submitter ⚠
- p.Leu1559Gln Single submitter ⚠
- p.Leu1574Arg Single submitter ⚠
- p.Leu1671Val Single submitter ⚠
- p.Leu1760Arg Single submitter ⚠
- p.Leu665Val Single submitter ⚠
- p.Lys1305Glu Single submitter ⚠
- p.Lys1756Thr Single submitter ⚠
- p.Lys1937Met Single submitter ⚠
- p.Lys410Asn Single submitter ⚠
- p.Lys410Thr Single submitter ⚠
- p.Lys449Arg Single submitter ⚠
- p.Lys657Glu Single submitter ⚠
- p.Lys829Glu Single submitter ⚠
- p.Met1220Val Single submitter ⚠
- p.Met1386Val Single submitter ⚠
- p.Met286Val Single submitter ⚠
- p.Met299Ile Single submitter ⚠
- p.Met511Thr Single submitter ⚠
- p.Phe1451Leu Single submitter ⚠
- p.Phe1617Ser Single submitter ⚠
- p.Phe1831Cys Single submitter ⚠
- p.Pro1050Gln Single submitter ⚠
- p.Pro1098Arg Single submitter ⚠
- p.Pro1157Leu Single submitter ⚠
- p.Pro1167Ser Single submitter SHROOM3-related disorder ⚠
- p.Pro1330Thr Single submitter ⚠
- p.Pro134His Single submitter ⚠
- p.Pro1357Ser Single submitter ⚠
- p.Pro1379Leu Single submitter ⚠
- p.Pro1400Leu Single submitter ⚠
- p.Pro1464Ser Single submitter ⚠
- p.Pro1475Ser Single submitter ⚠
- p.Pro1521Arg Single submitter ⚠
- p.Pro1530Leu Single submitter ⚠
- p.Pro1632Ser Single submitter ⚠
- p.Pro1657Thr Single submitter ⚠
- p.Pro1704His Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro1962Thr Single submitter ⚠
- p.Pro1979Leu Single submitter ⚠
- p.Pro1979Ser Single submitter ⚠
- p.Pro1995Ser Single submitter ⚠
- p.Pro351Ser Single submitter ⚠
- p.Pro358Leu Single submitter ⚠
- p.Pro461Thr Single submitter ⚠
- p.Pro669Leu Single submitter ⚠
- p.Pro723Thr Single submitter ⚠
- p.Pro725Arg Single submitter ⚠
- p.Pro725Leu Single submitter ⚠
- p.Pro748Arg Single submitter ⚠
- p.Pro878Arg Single submitter ⚠
- p.Ser1053Gly Single submitter ⚠
- p.Ser1172Gly Single submitter ⚠
- p.Ser1229Trp Single submitter ⚠
- p.Ser1480Arg Single submitter ⚠
- p.Ser1480Gly Single submitter ⚠
- p.Ser1490Pro Single submitter ⚠
- p.Ser1519Phe Single submitter ⚠
- p.Ser1542Gly Single submitter ⚠
- p.Ser1570Gly Single submitter ⚠
- p.Ser1575Pro Single submitter ⚠
- p.Ser1725Arg Single submitter ⚠
- p.Ser1876Pro Single submitter ⚠
- p.Ser1929Pro Single submitter ⚠
- p.Ser1958Pro Single submitter ⚠
- p.Ser250Cys Single submitter ⚠
- p.Ser283Ala Single submitter ⚠
- p.Ser367Thr Single submitter ⚠
- p.Ser406Asn Single submitter ⚠
- p.Ser443Arg Single submitter ⚠
- p.Ser484Tyr Single submitter ⚠
- p.Ser620Phe Single submitter ⚠
- p.Ser737Asn Single submitter ⚠
- p.Ser737Cys Single submitter ⚠
- p.Ser749Trp Single submitter ⚠
- p.Ser780Leu Single submitter ⚠
- p.Ser799Arg Single submitter ⚠
- p.Ser821Tyr Single submitter ⚠
- p.Ser872Leu Single submitter ⚠
- p.Ser872Trp Single submitter ⚠
- p.Ser913Leu Single submitter ⚠
- p.Ser933Pro Single submitter ⚠
- p.Ser954Leu Single submitter ⚠
- p.Ser978Phe Single submitter
- p.Ser987Ile Single submitter ⚠
- p.Thr1070Met Single submitter ⚠
- p.Thr1199Ile Single submitter ⚠
- p.Thr1199Ser Single submitter ⚠
- p.Thr1974Met Single submitter ⚠
- p.Thr1984Ala Single submitter ⚠
- p.Thr19Met Single submitter ⚠
- p.Thr373Ala Single submitter ⚠
- p.Thr373Lys Single submitter ⚠
- p.Thr4Asn Single submitter ⚠
- p.Thr684Asn Single submitter ⚠
- p.Thr699Ile Single submitter ⚠
- p.Thr820Ile Single submitter ⚠
- p.Thr939Ala Single submitter ⚠
- p.Thr939Ile Single submitter ⚠
- p.Thr981Arg Single submitter ⚠
- p.Thr981Met Single submitter ⚠
- p.Trp1212Ser Single submitter ⚠
- p.Trp38Arg Single submitter ⚠
- p.Tyr1457Cys Single submitter ⚠
- p.Tyr1750Cys Single submitter ⚠
- p.Tyr25Cys Single submitter ⚠
- p.Tyr492His Single submitter ⚠
- p.Val1312Ile Single submitter ⚠
- p.Val1412Leu Single submitter ⚠
- p.Val1420Ala Single submitter ⚠
- p.Val1592Ala Single submitter ⚠
- p.Val1905Leu Single submitter ⚠
- p.Val1925Met Single submitter ⚠
- p.Val307Phe Single submitter ⚠