MGAM — 323 ClinVar variants
All ClinVar germline MGAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →
2 Conflicting · 7 Benign · 46 Likely benign · 268 Uncertain significance
Full MGAM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 174
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 138
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MGAM p.Pro1471Ser Uncertain significance Multiple submitters
- MGAM p.Ala1027Ser Uncertain significance Single submitter
- MGAM p.Ala1260Ser Uncertain significance Single submitter
- MGAM p.Ala454Val Uncertain significance Single submitter
- MGAM p.Ala595Thr Uncertain significance Single submitter
- MGAM p.Ala832Thr Uncertain significance Single submitter
- MGAM p.Ala937Thr Uncertain significance Single submitter
- MGAM p.Ala937Val Uncertain significance Single submitter
- MGAM p.Arg1097His Uncertain significance Single submitter
- MGAM p.Arg1304Pro Uncertain significance Single submitter
- MGAM p.Arg1437Gly Uncertain significance Single submitter
- MGAM p.Arg1510Cys Uncertain significance Single submitter
- MGAM p.Arg154Trp Uncertain significance Single submitter
- MGAM p.Arg2564His Uncertain significance Single submitter
- MGAM p.Arg257Gln Uncertain significance Single submitter
- MGAM p.Arg3Thr Uncertain significance Single submitter
- MGAM p.Arg606Ser Uncertain significance Single submitter
- MGAM p.Arg672Trp Uncertain significance Single submitter
- MGAM p.Arg684Gly Uncertain significance Single submitter
- MGAM p.Arg881His Uncertain significance Single submitter
- MGAM p.Asn1303Ser Uncertain significance Single submitter
- MGAM p.Asn167Ser Uncertain significance Single submitter
- MGAM p.Asn192Thr Uncertain significance Single submitter
- MGAM p.Asn2743Ser Uncertain significance Single submitter
- MGAM p.Asn293Ser Uncertain significance Single submitter
- MGAM p.Asn295His Uncertain significance Single submitter
- MGAM p.Asn392Ser Uncertain significance Single submitter
- MGAM p.Asn438Asp Uncertain significance Single submitter
- MGAM p.Asn442Asp Uncertain significance Single submitter
- MGAM p.Asn442Ser Uncertain significance Single submitter
- MGAM p.Asn457Lys Uncertain significance Single submitter
- MGAM p.Asn867Asp Uncertain significance Single submitter
- MGAM p.Asn885His Uncertain significance Single submitter
- MGAM p.Asn885Thr Uncertain significance Single submitter
- MGAM p.Asn895Ser Uncertain significance Single submitter
- MGAM p.Asn989Asp Uncertain significance Single submitter
- MGAM p.Asp1357Gly Uncertain significance Single submitter
- MGAM p.Asp61Ala Uncertain significance Single submitter
- MGAM p.Asp635Glu Uncertain significance Single submitter
- MGAM p.Asp753Glu Uncertain significance Single submitter
- MGAM p.Asp77Gly Uncertain significance Single submitter
- MGAM p.Asp969Val Uncertain significance Single submitter
- MGAM p.Gln1081Glu Uncertain significance Single submitter
- MGAM p.Gln1254His Uncertain significance Single submitter
- MGAM p.Gln1326Arg Uncertain significance Single submitter
- MGAM p.Gln250His Uncertain significance Single submitter
- MGAM p.Gln757His Uncertain significance Single submitter
- MGAM p.Gln825Lys Uncertain significance Single submitter
- MGAM p.Glu1399Lys Uncertain significance Single submitter
- MGAM p.Glu395Lys Uncertain significance Single submitter
- MGAM p.Glu532Lys Uncertain significance Single submitter
- MGAM p.Glu803Lys Uncertain significance Single submitter
- MGAM p.Glu970Lys Uncertain significance Single submitter
- MGAM p.Gly1209Ala Uncertain significance Single submitter
- MGAM p.Gly1219Glu Uncertain significance Single submitter
- MGAM p.Gly1347Glu Uncertain significance Single submitter
- MGAM p.Gly1505Glu Uncertain significance Single submitter
- MGAM p.Gly1505Val Uncertain significance Single submitter
- MGAM p.Gly2526Val Uncertain significance Single submitter
- MGAM p.Gly2643Arg Uncertain significance Single submitter
- MGAM p.Gly50Val Uncertain significance Single submitter
- MGAM p.Gly818Arg Uncertain significance Single submitter
- MGAM p.Gly82Arg Uncertain significance Single submitter
- MGAM p.Gly919Asp Uncertain significance Single submitter
- MGAM p.His2606Arg Uncertain significance Single submitter
- MGAM p.His624Arg Uncertain significance Single submitter
- MGAM p.His69Asn Uncertain significance Single submitter
- MGAM p.Ile1104Thr Uncertain significance Single submitter
- MGAM p.Ile1315Ser Uncertain significance Single submitter
- MGAM p.Ile1341Phe Uncertain significance Single submitter
- MGAM p.Ile219Leu Uncertain significance Single submitter
- MGAM p.Ile2546Leu Uncertain significance Single submitter
-
MGAM p.Ile609Ser
Uncertain significance
Single submitter
MGAM-related disorder
- MGAM p.Ile938Val Uncertain significance Single submitter
- MGAM p.Leu1002Val Uncertain significance Single submitter
- MGAM p.Leu1021Phe Uncertain significance Single submitter
- MGAM p.Leu2620Arg Uncertain significance Single submitter
- MGAM p.Lys1022Thr Uncertain significance Single submitter
- MGAM p.Lys1099Asn Uncertain significance Single submitter
- MGAM p.Lys109Glu Uncertain significance Single submitter
- MGAM p.Lys1129Glu Uncertain significance Single submitter
- MGAM p.Lys1460Met Uncertain significance Single submitter
- MGAM p.Lys599Arg Uncertain significance Single submitter
- MGAM p.Met1049Leu Uncertain significance Single submitter
- MGAM p.Met1283Ile Uncertain significance Single submitter
- MGAM p.Met327Ile Uncertain significance Single submitter
- MGAM p.Phe238Leu Uncertain significance Single submitter
- MGAM p.Phe348Ser Uncertain significance Single submitter
- MGAM p.Phe621Leu Uncertain significance Single submitter
- MGAM p.Phe699Leu Uncertain significance Single submitter
- MGAM p.Pro1067Leu Uncertain significance Single submitter
- MGAM p.Pro106Gln Uncertain significance Single submitter
- MGAM p.Pro1293Ser Uncertain significance Single submitter
- MGAM p.Pro1327Ala Uncertain significance Single submitter
- MGAM p.Pro1356Thr Uncertain significance Single submitter
- MGAM p.Pro162Arg Uncertain significance Single submitter
- MGAM p.Pro2490Arg Uncertain significance Single submitter
- MGAM p.Pro2719Leu Uncertain significance Single submitter
- MGAM p.Ser1032Tyr Uncertain significance Single submitter
- MGAM p.Ser1072Asn Uncertain significance Single submitter
- MGAM p.Ser1261Gly Uncertain significance Single submitter
- MGAM p.Ser1426Asn Uncertain significance Single submitter
- MGAM p.Ser2676Asn Uncertain significance Single submitter
- MGAM p.Ser2702Asn Uncertain significance Single submitter
- MGAM p.Ser2702Gly Uncertain significance Single submitter
- MGAM p.Ser2720Phe Uncertain significance Single submitter
- MGAM p.Ser613Phe Uncertain significance Single submitter
- MGAM p.Thr1033Ala Uncertain significance Single submitter
- MGAM p.Thr10Ser Uncertain significance Single submitter
- MGAM p.Thr1101Ala Uncertain significance Single submitter
- MGAM p.Thr111Ile Uncertain significance Single submitter
- MGAM p.Thr1512Pro Uncertain significance Single submitter
- MGAM p.Thr2503Ile Uncertain significance Single submitter
- MGAM p.Thr2673Met Uncertain significance Single submitter
- MGAM p.Thr338Ile Uncertain significance Single submitter
- MGAM p.Thr51Ile Uncertain significance Single submitter
- MGAM p.Thr57Ala Uncertain significance Single submitter
- MGAM p.Thr59Ile Uncertain significance Single submitter
- MGAM p.Thr65Ser Uncertain significance Single submitter
- MGAM p.Thr67Ala Uncertain significance Single submitter
- MGAM p.Thr914Ile Uncertain significance Single submitter
- MGAM p.Thr924Ile Uncertain significance Single submitter
- MGAM p.Trp1523Cys Uncertain significance Single submitter
- MGAM p.Trp2698Cys Uncertain significance Single submitter
- MGAM p.Trp2698Ser Uncertain significance Single submitter
- MGAM p.Trp856Arg Uncertain significance Single submitter
- MGAM p.Trp856Leu Uncertain significance Single submitter
- MGAM p.Tyr1229Cys Uncertain significance Single submitter
- MGAM p.Tyr1277Cys Uncertain significance Single submitter
- MGAM p.Tyr300Cys Uncertain significance Single submitter
- MGAM p.Tyr387Ser Uncertain significance Single submitter
- MGAM p.Tyr680Cys Uncertain significance Single submitter
- MGAM p.Tyr787Asn Uncertain significance Single submitter
- MGAM p.Val1005Ala Uncertain significance Single submitter
- MGAM p.Val217Leu Uncertain significance Single submitter
- MGAM p.Val2527Ile Uncertain significance Single submitter
- MGAM p.Val2703Ala Uncertain significance Single submitter
- MGAM p.Val86Ala Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- MGAM p.Ala1182Thr Uncertain significance Single submitter
- MGAM p.Ala730Ser Uncertain significance Single submitter
- MGAM p.Arg1125Cys Uncertain significance Single submitter
- MGAM p.Arg115Cys Uncertain significance Single submitter
- MGAM p.Arg1311Gln Uncertain significance Single submitter
- MGAM p.Arg1333Trp Uncertain significance Single submitter
- MGAM p.Arg1387Cys Uncertain significance Single submitter
- MGAM p.Arg1518Cys Uncertain significance Single submitter
- MGAM p.Arg182Cys Uncertain significance Single submitter
- MGAM p.Arg182His Uncertain significance Single submitter
- MGAM p.Arg2531Gln Uncertain significance Single submitter
- MGAM p.Arg2626Cys Uncertain significance Single submitter
- MGAM p.Arg340Cys Uncertain significance Single submitter
- MGAM p.Asp1107Glu Uncertain significance Single submitter
- MGAM p.Asp809Val Uncertain significance Single submitter
- MGAM p.Gly1435Asp Uncertain significance Single submitter
- MGAM p.Gly1473Asp Uncertain significance Single submitter
- MGAM p.Gly1473Ser Uncertain significance Single submitter
- MGAM p.Gly773Val Uncertain significance Single submitter
- MGAM p.Gly859Ala Uncertain significance Single submitter
- MGAM p.Ile811Thr Uncertain significance Single submitter
- MGAM p.Leu1038His Uncertain significance Single submitter
- MGAM p.Leu723Val Uncertain significance Single submitter
- MGAM p.Met653Thr Uncertain significance Single submitter
- MGAM p.Pro1222Thr Uncertain significance Single submitter
- MGAM p.Pro292Leu Uncertain significance Single submitter
- MGAM p.Pro553Leu Uncertain significance Single submitter
- MGAM p.Pro641Arg Uncertain significance Single submitter
- MGAM p.Thr2528Ser Uncertain significance Single submitter
- MGAM p.Thr2543Ala Uncertain significance Single submitter
- MGAM p.Trp2544Gly Uncertain significance Single submitter
- MGAM p.Tyr2514Cys Uncertain significance Single submitter
- MGAM p.Tyr2582Cys Uncertain significance Single submitter
- MGAM p.Val1497Gly Uncertain significance Single submitter
-
MGAM p.Arg401Cys
Likely benign
No assertion criteria
MGAM-related disorder
All MGAM variants
Conflicting classifications of pathogenicity 2
- p.Asn971Asp Single submitter ⚠
- p.Thr2524Met Single submitter
Benign 7
- p.Glu2536= Multiple submitters
- p.Ile2500Val Multiple submitters
- p.Phe2443= Multiple submitters
- p.Pro1424Thr Multiple submitters
- p.Thr1528= Multiple submitters
- c.7307-8C>T Single submitter
- p.Tyr1485= Single submitter
Likely benign 46
- p.Ala1296= Multiple submitters
- c.127+5G>T Single submitter
- p.Ala70Ser Single submitter
- p.Arg1140Thr Single submitter
- p.Arg154Gln Single submitter
- p.Arg421Lys Single submitter
- p.Asn1896= Single submitter
- p.Asn989Ser Single submitter
- p.Asp2733Asn Single submitter
- p.Asp391Asn Single submitter
- p.Gly2643Glu Single submitter
- p.Gly642= Single submitter
- p.Ile1104Val Single submitter
- p.Ile2546Val Single submitter
- p.Ile28Thr Single submitter
- p.Ile342Thr Single submitter
- p.Leu237= Single submitter
- p.Met1073Val Single submitter
- p.Phe1358Leu Single submitter
- p.Ser1155= Single submitter
- p.Ser1371= Single submitter
- p.Ser2051= Single submitter
- p.Thr1501= Single submitter
- p.Thr1552Met Single submitter
- p.Thr2503Asn Single submitter
- p.Tyr2028Cys Single submitter
- p.Val125Ile Single submitter
- p.Val2495Ala Single submitter
- p.Val2705Ile Single submitter
- p.Val592= Single submitter
- c.2374-4T>A No assertion criteria MGAM-related disorder
- c.4122+1G>T No assertion criteria MGAM-related disorder
- c.5186+5A>G No assertion criteria MGAM-related disorder
- c.7608-8C>T No assertion criteria MGAM-related disorder
- p.Ala2571= No assertion criteria MGAM-related disorder
- p.Arg1125= No assertion criteria MGAM-related disorder
- p.Arg1668= No assertion criteria MGAM-related disorder
- p.Arg401Cys No assertion criteria MGAM-related disorder ⚠
- p.Arg637Ser No assertion criteria MGAM-related disorder
- p.Asp1562= No assertion criteria MGAM-related disorder
- p.Glu1564= No assertion criteria MGAM-related disorder
- p.Ile2679Val No assertion criteria MGAM-related disorder
- p.Leu1002= No assertion criteria MGAM-related disorder
- p.Phe899= No assertion criteria MGAM-related disorder
- p.Thr2748Met No assertion criteria MGAM-related disorder
- p.Thr914= No assertion criteria MGAM-related disorder
Uncertain significance 268
- p.Glu805Gly Multiple submitters MGAM-related disorder
- p.Pro1471Ser Multiple submitters ⚠
- p.Ala1027Ser Single submitter ⚠
- p.Ala1182Thr Single submitter ⚠
- p.Ala1260Ser Single submitter ⚠
- p.Ala1300Pro Single submitter
- p.Ala1520Pro Single submitter
- p.Ala209Gly Single submitter
- p.Ala2665Gly Single submitter
- p.Ala334Val Single submitter
- p.Ala454Val Single submitter ⚠
- p.Ala507Asp Single submitter
- p.Ala593Thr Single submitter
- p.Ala595Thr Single submitter ⚠
- p.Ala616Val Single submitter
- p.Ala730Ser Single submitter ⚠
- p.Ala832Thr Single submitter ⚠
- p.Ala937Thr Single submitter ⚠
- p.Ala937Val Single submitter ⚠
- p.Arg1097His Single submitter ⚠
- p.Arg1125Cys Single submitter ⚠
- p.Arg115Cys Single submitter ⚠
- p.Arg1304Cys Single submitter
- p.Arg1304Pro Single submitter ⚠
- p.Arg1311Gln Single submitter ⚠
- p.Arg1333Trp Single submitter ⚠
- p.Arg1387Cys Single submitter ⚠
- p.Arg1437Gly Single submitter ⚠
- p.Arg1510Cys Single submitter ⚠
- p.Arg1518Cys Single submitter ⚠
- p.Arg1518His Single submitter
- p.Arg154Trp Single submitter ⚠
- p.Arg182Cys Single submitter ⚠
- p.Arg182His Single submitter ⚠
- p.Arg231Ile Single submitter
- p.Arg235His Single submitter
- p.Arg2486Gly Single submitter
- p.Arg2531Gln Single submitter ⚠
- p.Arg2564Cys Single submitter
- p.Arg2564His Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg2626Cys Single submitter ⚠
- p.Arg275Pro Single submitter
- p.Arg340Cys Single submitter ⚠
- p.Arg3Thr Single submitter ⚠
- p.Arg606Ser Single submitter ⚠
- p.Arg671Met Single submitter
- p.Arg672Trp Single submitter ⚠
- p.Arg684Gly Single submitter ⚠
- p.Arg881Cys Single submitter
- p.Arg881His Single submitter ⚠
- p.Arg981His Single submitter
- p.Asn1303Ser Single submitter ⚠
- p.Asn1323Ser Single submitter
- p.Asn167Ser Single submitter ⚠
- p.Asn192Thr Single submitter ⚠
- p.Asn2481Ser Single submitter
- p.Asn2743Ser Single submitter ⚠
- p.Asn293Ser Single submitter ⚠
- p.Asn295His Single submitter ⚠
- p.Asn392Ser Single submitter ⚠
- p.Asn438Asp Single submitter ⚠
- p.Asn442Asp Single submitter ⚠
- p.Asn442Ser Single submitter ⚠
- p.Asn457Lys Single submitter ⚠
- p.Asn547Lys Single submitter
- p.Asn714Asp Single submitter
- p.Asn867Asp Single submitter ⚠
- p.Asn885His Single submitter ⚠
- p.Asn885Thr Single submitter ⚠
- p.Asn895Ser Single submitter ⚠
- p.Asn989Asp Single submitter ⚠
- p.Asp1107Glu Single submitter ⚠
- p.Asp1357Gly Single submitter ⚠
- p.Asp2494Val Single submitter
- p.Asp249Glu Single submitter
- p.Asp2637Gly Single submitter
- p.Asp426Asn Single submitter
- p.Asp61Ala Single submitter ⚠
- p.Asp635Glu Single submitter ⚠
- p.Asp753Glu Single submitter ⚠
- p.Asp77Gly Single submitter ⚠
- p.Asp809Val Single submitter ⚠
- p.Asp969Val Single submitter ⚠
- p.Cys1436Tyr Single submitter
- p.Cys565Trp Single submitter
- p.Cys873Trp Single submitter
- p.Gln1081Glu Single submitter ⚠
- p.Gln1227His Single submitter
- p.Gln1254His Single submitter ⚠
- p.Gln1326Arg Single submitter ⚠
- p.Gln250His Single submitter ⚠
- p.Gln303His Single submitter
- p.Gln757His Single submitter ⚠
- p.Gln825Lys Single submitter ⚠
- p.Glu1223Asp Single submitter
- p.Glu1265Val Single submitter
- p.Glu1399Lys Single submitter ⚠
- p.Glu1495Gln Single submitter
- p.Glu1495Lys Single submitter
- p.Glu200Lys Single submitter
- p.Glu2563Lys Single submitter
- p.Glu395Lys Single submitter ⚠
- p.Glu439Lys Single submitter
- p.Glu532Lys Single submitter ⚠
- p.Glu803Lys Single submitter ⚠
- p.Glu849Gly Single submitter
- p.Glu970Lys Single submitter ⚠
- p.Gly1180Asp Single submitter
- p.Gly1180Cys Single submitter
- p.Gly1209Ala Single submitter ⚠
- p.Gly1219Glu Single submitter ⚠
- p.Gly1347Glu Single submitter ⚠
- p.Gly1435Asp Single submitter ⚠
- p.Gly1473Asp Single submitter ⚠
- p.Gly1473Ser Single submitter ⚠
- p.Gly1505Glu Single submitter ⚠
- p.Gly1505Val Single submitter ⚠
- p.Gly2312Val Single submitter MGAM-related disorder
- p.Gly2526Val Single submitter ⚠
- p.Gly2643Arg Single submitter ⚠
- p.Gly388Arg Single submitter
- p.Gly50Val Single submitter ⚠
- p.Gly763Ser Single submitter
- p.Gly773Asp Single submitter
- p.Gly773Val Single submitter ⚠
- p.Gly818Arg Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.Gly859Ala Single submitter ⚠
- p.Gly919Asp Single submitter ⚠
- p.His2523Leu Single submitter
- p.His2606Arg Single submitter ⚠
- p.His624Arg Single submitter ⚠
- p.His69Asn Single submitter ⚠
- p.Ile1104Thr Single submitter ⚠
- p.Ile1315Ser Single submitter ⚠
- p.Ile1341Met Single submitter
- p.Ile1341Phe Single submitter ⚠
- p.Ile1349Val Single submitter
- p.Ile219Leu Single submitter ⚠
- p.Ile2483Thr Single submitter
- p.Ile2546Leu Single submitter ⚠
- p.Ile342Val Single submitter
- p.Ile450Val Single submitter
- p.Ile609Ser Single submitter MGAM-related disorder ⚠
- p.Ile640Val Single submitter
- p.Ile811Thr Single submitter ⚠
- p.Ile938Val Single submitter ⚠
- p.Leu1002Val Single submitter ⚠
- p.Leu1021Phe Single submitter ⚠
- p.Leu1038His Single submitter ⚠
- p.Leu1224Phe Single submitter
- p.Leu1291Ile Single submitter
- p.Leu2620Arg Single submitter ⚠
- p.Leu2636Val Single submitter
- p.Leu2690Ser Single submitter
- p.Leu2730Val Single submitter
- p.Leu447Val Single submitter
- p.Leu568Val Single submitter
- p.Leu723Val Single submitter ⚠
- p.Leu897Phe Single submitter
- p.Lys1022Thr Single submitter ⚠
- p.Lys1099Asn Single submitter ⚠
- p.Lys109Glu Single submitter ⚠
- p.Lys1129Glu Single submitter ⚠
- p.Lys1460Met Single submitter ⚠
- p.Lys599Arg Single submitter ⚠
- p.Met1049Leu Single submitter ⚠
- p.Met1118Val Single submitter
- p.Met1283Ile Single submitter ⚠
- p.Met2463Ile Single submitter
- p.Met2463Lys Single submitter
- p.Met2674Thr Single submitter
- p.Met327Ile Single submitter ⚠
- p.Met653Thr Single submitter ⚠
- p.Met804Val Single submitter
- p.Phe238Leu Single submitter ⚠
- p.Phe2456Leu Single submitter
- p.Phe348Ser Single submitter ⚠
- p.Phe621Leu Single submitter ⚠
- p.Phe699Leu Single submitter ⚠
- p.Pro1067Leu Single submitter ⚠
- p.Pro106Gln Single submitter ⚠
- p.Pro1201Ser Single submitter
- p.Pro1222Thr Single submitter ⚠
- p.Pro1293Ser Single submitter ⚠
- p.Pro1327Ala Single submitter ⚠
- p.Pro1344Thr Single submitter
- p.Pro1356Thr Single submitter ⚠
- p.Pro162Arg Single submitter ⚠
- p.Pro2490Arg Single submitter ⚠
- p.Pro2719Leu Single submitter ⚠
- p.Pro292Leu Single submitter ⚠
- p.Pro486Leu Single submitter
- p.Pro553Leu Single submitter ⚠
- p.Pro641Arg Single submitter ⚠
- p.Ser1012Cys Single submitter
- p.Ser1032Tyr Single submitter ⚠
- p.Ser1072Asn Single submitter ⚠
- p.Ser1181Ile Single submitter
- p.Ser1261Gly Single submitter ⚠
- p.Ser1278Leu Single submitter
- p.Ser1426Asn Single submitter ⚠
- p.Ser1466Thr Single submitter
- p.Ser2676Asn Single submitter ⚠
- p.Ser2702Asn Single submitter ⚠
- p.Ser2702Gly Single submitter ⚠
- p.Ser2720Phe Single submitter ⚠
- p.Ser607Asn Single submitter
- p.Ser613Phe Single submitter ⚠
- p.Ser911Thr Single submitter
- p.Thr1033Ala Single submitter ⚠
- p.Thr10Ser Single submitter ⚠
- p.Thr1101Ala Single submitter ⚠
- p.Thr111Ile Single submitter ⚠
- p.Thr1226Ile Single submitter
- p.Thr1512Pro Single submitter ⚠
- p.Thr174Pro Single submitter
- p.Thr2448Met Single submitter
- p.Thr2503Ile Single submitter ⚠
- p.Thr2510Asn Single submitter
- p.Thr2510Ile Single submitter
- p.Thr2528Ser Single submitter ⚠
- p.Thr2543Ala Single submitter ⚠
- p.Thr2583Met Single submitter
- p.Thr2673Met Single submitter ⚠
- p.Thr2687Arg Single submitter
- p.Thr2726Met Single submitter
- p.Thr338Ile Single submitter ⚠
- p.Thr355Ala Single submitter
- p.Thr51Ile Single submitter ⚠
- p.Thr57Ala Single submitter ⚠
- p.Thr59Ile Single submitter ⚠
- p.Thr65Ser Single submitter ⚠
- p.Thr67Ala Single submitter ⚠
- p.Thr718Ile Single submitter
- p.Thr914Ile Single submitter ⚠
- p.Thr924Ile Single submitter ⚠
- p.Thr929Ile Single submitter
- p.Trp129Arg Single submitter
- p.Trp1523Cys Single submitter ⚠
- p.Trp2544Gly Single submitter ⚠
- p.Trp2698Cys Single submitter ⚠
- p.Trp2698Ser Single submitter ⚠
- p.Trp856Arg Single submitter ⚠
- p.Trp856Leu Single submitter ⚠
- p.Trp985Arg Single submitter
- p.Tyr1044Ter Single submitter MGAM-related disorder
- p.Tyr1083Cys Single submitter
- p.Tyr1229Cys Single submitter ⚠
- p.Tyr1277Cys Single submitter ⚠
- p.Tyr1376Cys Single submitter
- p.Tyr2514Cys Single submitter ⚠
- p.Tyr2582Cys Single submitter ⚠
- p.Tyr300Cys Single submitter ⚠
- p.Tyr387Ser Single submitter ⚠
- p.Tyr680Cys Single submitter ⚠
- p.Tyr787Asn Single submitter ⚠
- p.Val1005Ala Single submitter ⚠
- p.Val1497Gly Single submitter ⚠
- p.Val202Met Single submitter
- p.Val217Leu Single submitter ⚠
- p.Val2527Ile Single submitter ⚠
- p.Val2703Ala Single submitter ⚠
- p.Val350Met Single submitter
- p.Val397Met Single submitter
- p.Val86Ala Single submitter ⚠
- p.Val915Ala Single submitter