MAGI2 — 652 ClinVar variants
All ClinVar germline MAGI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 322 flagged for review →
4 Pathogenic · 8 Likely pathogenic · 19 Conflicting · 86 Benign · 12 Benign/Likely benign · 159 Likely benign · 364 Uncertain significance
Full MAGI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 322
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- MAGI2 p.Ala1406Thr Conflicting Single submitter
- MAGI2 p.Gly1395Ser Conflicting Single submitter
-
MAGI2 p.Leu381Val
Conflicting
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Pro271Leu
Conflicting
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Pro573Ala
Conflicting
Single submitter
nephrotic syndrome 15
- MAGI2 p.Pro711Thr Conflicting Single submitter
-
MAGI2 p.Ser944Pro
Conflicting
Single submitter
nephrotic syndrome 15
- MAGI2 p.Thr293Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 256
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 256
-
MAGI2 p.Ala1028Val
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ala1247Thr
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ala1271Thr
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ala1453Thr
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Ala274Thr Uncertain significance Multiple submitters
-
MAGI2 p.Ala620Gly
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ala899Pro
Uncertain significance
Multiple submitters
MAGI2-related disorder
- MAGI2 p.Arg1005His Uncertain significance Multiple submitters
-
MAGI2 p.Arg1370Pro
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Arg1425Leu Uncertain significance Multiple submitters
- MAGI2 p.Arg215Gln Uncertain significance Multiple submitters
-
MAGI2 p.Arg508His
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Arg766Gln Uncertain significance Multiple submitters
-
MAGI2 p.Arg887His
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Asn503Ser
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Asp1260Asn Uncertain significance Multiple submitters
-
MAGI2 p.Asp258Glu
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Asp464Gly Uncertain significance Multiple submitters
-
MAGI2 p.Asp814Asn
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Cys345Tyr
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Gln388Arg Uncertain significance Multiple submitters
-
MAGI2 p.Glu230Asp
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Glu309Asp
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Gly580Ser
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Gly794Trp
Uncertain significance
Multiple submitters
MAGI2-related disorder
-
MAGI2 p.His256Arg
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ile498Val
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ile529Val
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ile671Thr
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ile694Val
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ile79Thr
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Leu1134Val
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Leu1328Phe
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Leu666Ile
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Lys1307Gln
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Met593Val
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Met695Thr
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Pro1273Leu Uncertain significance Multiple submitters
-
MAGI2 p.Pro1392Ser
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Pro1419Ala
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Pro273Ala
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Pro275Leu Uncertain significance Multiple submitters
-
MAGI2 p.Pro868Arg
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Pro908Arg
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Pro908His
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Ser1397Asn Uncertain significance Multiple submitters
- MAGI2 p.Ser707Ile Uncertain significance Multiple submitters
-
MAGI2 p.Thr1016Ile
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Thr1129Ser
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Thr290Ile
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Thr706Met
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Thr894Ala
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Tyr893Asp
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Val1294Phe
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Val1429Ile
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Val248Glu
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Val276Met
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Val647Ile
Uncertain significance
Multiple submitters
nephrotic syndrome 15
- MAGI2 p.Ala1055Glu Uncertain significance Single submitter
-
MAGI2 p.Ala1248Thr
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Ala1263Thr
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Ala1302Val
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Ala1388Pro Uncertain significance Single submitter
- MAGI2 p.Ala1388Ser Uncertain significance Single submitter
-
MAGI2 p.Ala1388Val
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Ala1390Asp Uncertain significance Single submitter
- MAGI2 p.Ala1390Val Uncertain significance Single submitter
-
MAGI2 p.Ala1402Thr
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Ala1450Ser Uncertain significance Single submitter
-
MAGI2 p.Ala171Thr
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Ala193Thr Uncertain significance Single submitter
- MAGI2 p.Ala404Ser Uncertain significance Single submitter
- MAGI2 p.Ala461Pro Uncertain significance Single submitter
-
MAGI2 p.Ala461Thr
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Ala53Val Uncertain significance Single submitter
- MAGI2 p.Ala601Thr Uncertain significance Single submitter
- MAGI2 p.Ala712Asp Uncertain significance Single submitter
- MAGI2 p.Ala900Val Uncertain significance Single submitter
- MAGI2 p.Arg1084Gln Uncertain significance Single submitter
-
MAGI2 p.Arg1325Leu
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Arg1327Lys Uncertain significance Single submitter
- MAGI2 p.Arg1327Ser Uncertain significance Single submitter
-
MAGI2 p.Arg136Cys
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Arg1425His
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Arg215Trp Uncertain significance Single submitter
- MAGI2 p.Arg415Trp Uncertain significance Single submitter
- MAGI2 p.Arg553Gln Uncertain significance Single submitter
- MAGI2 p.Arg564Gln Uncertain significance Single submitter
- MAGI2 p.Arg564Gly Uncertain significance Single submitter
-
MAGI2 p.Arg681Gln
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Arg697Gln Uncertain significance Single submitter
- MAGI2 p.Arg738Trp Uncertain significance Single submitter
- MAGI2 p.Arg850His Uncertain significance Single submitter
-
MAGI2 p.Arg887Cys
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Arg941Ser Uncertain significance Single submitter
-
MAGI2 p.Asn113Ser
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Asn477Lys
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Asn700Lys Uncertain significance Single submitter
-
MAGI2 p.Asn895Lys
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Asp1128Val
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Asp1260Glu Uncertain significance Single submitter
- MAGI2 p.Asp180Gly Uncertain significance Single submitter
- MAGI2 p.Asp258Val Uncertain significance Single submitter
- MAGI2 p.Asp289Gly Uncertain significance Single submitter
- MAGI2 p.Asp297Asn Uncertain significance Single submitter
-
MAGI2 p.Asp368Asn
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Asp464His Uncertain significance Single submitter
- MAGI2 p.Asp621Asn Uncertain significance Single submitter
-
MAGI2 p.Asp621Gly
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Asp741Tyr
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Asp796Val
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Asp814Tyr Uncertain significance Single submitter
-
MAGI2 p.Asp843Gly
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Asp959His Uncertain significance Single submitter
- MAGI2 p.Cys1303Tyr Uncertain significance Single submitter
-
MAGI2 p.Cys507Ser
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Gln1030Arg
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Gln1041Pro Uncertain significance Single submitter
-
MAGI2 p.Gln1321His
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Gln286Glu
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Gln652Lys Uncertain significance Single submitter
- MAGI2 p.Glu1234Ala Uncertain significance Single submitter
- MAGI2 p.Glu1237Lys Uncertain significance Single submitter
- MAGI2 p.Glu1299Asp Uncertain significance Single submitter
- MAGI2 p.Glu1403Gly Uncertain significance Single submitter
- MAGI2 p.Glu161Asp Uncertain significance Single submitter
- MAGI2 p.Glu235Lys Uncertain significance Single submitter
- MAGI2 p.Glu237Lys Uncertain significance Single submitter
-
MAGI2 p.Glu252Lys
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Glu517Ala Uncertain significance Single submitter
-
MAGI2 p.Glu867Lys
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Glu909Ala Uncertain significance Single submitter
- MAGI2 p.Gly1064Ala Uncertain significance Single submitter
- MAGI2 p.Gly1104Glu Uncertain significance Single submitter
- MAGI2 p.Gly1228Asp Uncertain significance Single submitter
- MAGI2 p.Gly1250Asp Uncertain significance Single submitter
- MAGI2 p.Gly1261Arg Uncertain significance Single submitter
- MAGI2 p.Gly1283Ser Uncertain significance Single submitter
- MAGI2 p.Gly1391Arg Uncertain significance Single submitter
-
MAGI2 p.Gly1398Asp
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Gly1398Ser Uncertain significance Single submitter
- MAGI2 p.Gly1404Ser Uncertain significance Single submitter
- MAGI2 p.Gly1411Asp Uncertain significance Single submitter
- MAGI2 p.Gly1420Glu Uncertain significance Single submitter
-
MAGI2 p.Gly246Arg
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Gly262Asp
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Gly580Arg Uncertain significance Single submitter
-
MAGI2 p.Gly616Ser
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Gly794Arg Uncertain significance Single submitter
- MAGI2 p.Gly795Glu Uncertain significance Single submitter
Predictors split 58
The independent predictors disagree with each other — read with care.
- MAGI2 p.Ala809Ser Uncertain significance Multiple submitters
-
MAGI2 p.Arg408Gln
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Arg839Cys
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Arg839His
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Glu927Gln
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Gly102Glu
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Met986Ile
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Pro1008Ser
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ser9Gly
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Tyr544His
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Val654Leu
Uncertain significance
Multiple submitters
nephrotic syndrome 15
-
MAGI2 p.Ala612Val
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Ala849Thr
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Arg1005Cys Uncertain significance Single submitter
- MAGI2 p.Arg1187Lys Uncertain significance Single submitter
-
MAGI2 p.Arg217Gly
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Arg782Gln Uncertain significance Single submitter
- MAGI2 p.Arg782Trp Uncertain significance Single submitter
-
MAGI2 p.Arg94Trp
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Arg965Cys
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Arg965His Uncertain significance Single submitter
-
MAGI2 p.Asn113His
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Asn23Lys Uncertain significance Single submitter
- MAGI2 p.Asn243Ser Uncertain significance Single submitter
- MAGI2 p.Asn872Lys Uncertain significance Single submitter
- MAGI2 p.Asn985His Uncertain significance Single submitter
- MAGI2 p.Asn985Ile Uncertain significance Single submitter
-
MAGI2 p.Asp1121Tyr
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Asp302Asn
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Asp444Glu Uncertain significance Single submitter
- MAGI2 p.Cys641Ser Uncertain significance Single submitter
-
MAGI2 p.Gln1077Arg
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Glu167Asp
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Glu64Ala Uncertain significance Single submitter
- MAGI2 p.Glu747Lys Uncertain significance Single submitter
- MAGI2 p.Gly873Glu Uncertain significance Single submitter
- MAGI2 p.Gly945Glu Uncertain significance Single submitter
-
MAGI2 p.His846Asn
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.His88Gln Uncertain significance Single submitter
- MAGI2 p.Ile1183Thr Uncertain significance Single submitter
- MAGI2 p.Leu803Phe Uncertain significance Single submitter
- MAGI2 p.Lys1074Arg Uncertain significance Single submitter
- MAGI2 p.Lys14Thr Uncertain significance Single submitter
- MAGI2 p.Lys315Asn Uncertain significance Single submitter
- MAGI2 p.Lys610Arg Uncertain significance Single submitter
- MAGI2 p.Met1150Ile Uncertain significance Single submitter
-
MAGI2 p.Phe514Leu
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Pro1038Ala Uncertain significance Single submitter
-
MAGI2 p.Pro1117Leu
Uncertain significance
Single submitter
nephrotic syndrome 15
-
MAGI2 p.Pro303Leu
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Pro457Leu Uncertain significance Single submitter
- MAGI2 p.Ser1001Asn Uncertain significance Single submitter
-
MAGI2 p.Ser1043Asn
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Ser676Pro Uncertain significance Single submitter
-
MAGI2 p.Thr12Ser
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Thr427Ala Uncertain significance Single submitter
-
MAGI2 p.Tyr1106Cys
Uncertain significance
Single submitter
nephrotic syndrome 15
- MAGI2 p.Val647Ala Uncertain significance Single submitter
All MAGI2 variants
Pathogenic 4
- p.Tyr54fs Single submitter
- p.Arg22fs No assertion criteria nephrotic syndrome 15
- p.Glu1178fs No assertion criteria nephrotic syndrome 15
- p.Gly1333fs No assertion criteria nephrotic syndrome 15
Likely pathogenic 8
- c.2269+1G>A Single submitter MAGI2-related disorder
- c.2269+2dup Single submitter nephrotic syndrome 15
- c.3567+1G>T Single submitter nephrotic syndrome 15
- p.Asp464fs Single submitter nephrotic syndrome 15
- p.Gln27Ter Single submitter nephrotic syndrome 15
- p.Glu238Ter Single submitter nephrotic syndrome 15
- p.Gly50fs Single submitter nephrotic syndrome 15
- p.Val15fs Single submitter MAGI2-related disorder
Conflicting classifications of pathogenicity 19
- c.3706+5G>A Single submitter
- p.Ala1406Thr Single submitter ⚠
- p.Arg818= Single submitter
- p.Asp579= Single submitter
- p.Gly1395Ser Single submitter ⚠
- p.Leu381Val Single submitter nephrotic syndrome 15 ⚠
- p.Pro271Leu Single submitter nephrotic syndrome 15 ⚠
- p.Pro573Ala Single submitter nephrotic syndrome 15 ⚠
- p.Pro711= Single submitter
- p.Pro711Thr Single submitter ⚠
- p.Pro714= Single submitter
- p.Pro720= Single submitter
- p.Pro73= Single submitter
- p.Ser571= Single submitter
- p.Ser944Pro Single submitter nephrotic syndrome 15 ⚠
- p.Thr137= Single submitter nephrotic syndrome 15
- p.Thr293Ile Single submitter ⚠
- p.Tyr475= Single submitter
- p.Tyr510= Single submitter nephrotic syndrome 15
Benign 86
- c.1045+96C>T Multiple submitters
- c.1103+205A>G Multiple submitters
- c.1103+281T>C Multiple submitters
- c.2079+256C>G Multiple submitters
- c.2079+69G>T Multiple submitters
- c.2846-68G>T Multiple submitters
- c.301+80A>T Multiple submitters
- c.3031+85C>T Multiple submitters
- c.3032-80A>G Multiple submitters
- c.3203+156T>C Multiple submitters
- c.3204-116G>A Multiple submitters
- c.3204-132A>G Multiple submitters
- c.3204-82C>A Multiple submitters
- c.3424-43T>C Multiple submitters
- c.3706+133T>C Multiple submitters
- c.419-88C>A Multiple submitters
- c.538+157A>G Multiple submitters
- c.538+94G>A Multiple submitters
- c.965+154C>T Multiple submitters
- c.966-42T>G Multiple submitters
- c.966-66_966-65dup Multiple submitters
- c.966-73dup Multiple submitters
- c.-101T>G Multiple submitters
- p.Asn298Ser Multiple submitters
- p.Asn928= Multiple submitters
- p.Leu1119= Multiple submitters nephrotic syndrome 15
- p.Lys338= Multiple submitters
- p.Pro1423= Multiple submitters
- p.Pro1443= Multiple submitters nephrotic syndrome 15
- p.Pro585= Multiple submitters
- p.Ser1071= Multiple submitters nephrotic syndrome 15
- p.Thr177= Multiple submitters
- c.1045+232T>C Single submitter
- c.1046-308C>T Single submitter
- c.1104-264G>A Single submitter
- c.1225+448C>A Single submitter
- c.1226-179G>A Single submitter
- c.1408+129T>C Single submitter
- c.1408+174T>G Single submitter
- c.1409-8dup Single submitter
- c.2048-241T>G Single submitter
- c.2270-182T>C Single submitter
- c.2404-51del Single submitter
- c.2404-64dup Single submitter
- c.2597-6_2597-5del Single submitter
- c.2845+1802C>T Single submitter
- c.2846-159G>T Single submitter
- c.301+13G>T Single submitter
- c.302-9del Single submitter
- c.302-9dup Single submitter
- c.3031+259C>T Single submitter
- c.3031+293A>G Single submitter
- c.3203+193G>A Single submitter
- c.3204-18C>G Single submitter
- c.3423+237G>A Single submitter
- c.3423+239G>A Single submitter
- c.3424-191C>G Single submitter
- c.3568-329T>C Single submitter
- c.3706+133_3706+136del Single submitter
- c.3706+135CA[17] Single submitter
- c.3707-221G>A Single submitter
- c.418+204A>G Single submitter
- c.418+222T>C Single submitter
- c.538+260CA[11] Single submitter
- c.538+260CA[12] Single submitter
- c.538+260CA[14] Single submitter
- c.538+260CA[15] Single submitter
- c.539-163T>G Single submitter
- c.539-179T>C Single submitter
- c.539-32942G>A Single submitter
- c.539-32984G>C Single submitter
- c.754+110A>G Single submitter
- c.754+178A>T Single submitter
- c.754+18T>C Single submitter
- c.754+193A>T Single submitter
- c.754+197del Single submitter
- c.754+236_754+252del Single submitter
- c.965+170C>A Single submitter
- c.965+218C>T Single submitter
- c.965+259A>C Single submitter
- c.965+78_965+79dup Single submitter
- c.965+78_965+80dup Single submitter
- c.965+78dup Single submitter
- c.965+92del Single submitter
- p.His1065= Single submitter
- p.Leu1262= Single submitter
Benign/Likely benign 12
- c.2846-18C>A Multiple submitters
- p.Arg738Gln Multiple submitters
- p.Asn872= Multiple submitters nephrotic syndrome 15
- p.Gln1305= Multiple submitters
- p.Glu300= Multiple submitters nephrotic syndrome 15
- p.Gly1255= Multiple submitters
- p.Gly176= Multiple submitters nephrotic syndrome 15
- p.Gly316= Multiple submitters
- p.Leu777= Multiple submitters
- p.Leu793= Multiple submitters
- p.Pro92= Multiple submitters nephrotic syndrome 15
- p.Ser1268= Multiple submitters
Likely benign 159
- c.1104-32C>T Multiple submitters
- c.1225+164T>C Multiple submitters
- c.1226-24T>C Multiple submitters
- c.3423+13G>A Multiple submitters
- c.3423+19C>T Multiple submitters
- c.3424-14C>T Multiple submitters
- c.3706+12G>A Multiple submitters nephrotic syndrome 15
- c.418+11T>C Multiple submitters
- c.-27G>A Multiple submitters
- p.Gly1304Asp Multiple submitters
- p.Lys216= Multiple submitters
- p.Lys386= Multiple submitters
- p.Pro1118= Multiple submitters
- p.Pro742= Multiple submitters
- p.Ser1451= Multiple submitters nephrotic syndrome 15
- p.Thr1229= Multiple submitters
- p.Thr1285= Multiple submitters
- p.Thr706= Multiple submitters
- p.Tyr746= Multiple submitters
- p.Tyr840= Multiple submitters
- p.Val121= Multiple submitters
- p.Val1436= Multiple submitters
- c.1104-91C>T Single submitter
- c.1225+197C>A Single submitter
- c.1408+5G>A Single submitter
- c.1409-6T>C Single submitter
- c.2047+129_2047+132del Single submitter
- c.2047+17C>T Single submitter
- c.2079+8G>A Single submitter
- c.2269+215T>G Single submitter
- c.2270-16C>T Single submitter
- c.2270-18C>T Single submitter
- c.2311+18C>G Single submitter
- c.2311+19T>G Single submitter
- c.2312-20T>C Single submitter
- c.2403+140del Single submitter
- c.2845+20T>A Single submitter
- c.2846-16G>A Single submitter
- c.301+11C>A Single submitter
- c.301+7G>A Single submitter
- c.302-16C>T Single submitter
- c.3031+233C>A Single submitter
- c.3032-16T>C Single submitter
- c.3203+270A>G Single submitter
- c.3204-18C>T Single submitter
- c.3204-3T>C Single submitter
- c.3204-67C>G Single submitter
- c.3423+12C>T Single submitter
- c.3424-19T>C Single submitter
- c.3567+14C>A Single submitter
- c.3567+237T>G Single submitter
- c.3706+11C>T Single submitter
- c.3706+125TA[4] Single submitter
- c.3706+12G>T Single submitter
- c.3707-11C>T Single submitter
- c.3707-143_3707-138dup Single submitter
- c.3707-17G>A Single submitter
- c.3707-19C>T Single submitter
- c.3707-9C>T Single submitter
- c.418+11T>G Single submitter
- c.418+294C>T Single submitter
- c.419-11T>C Single submitter
- c.419-16A>G Single submitter
- c.538+15C>G Single submitter
- c.538+260CA[16] Single submitter
- c.538+260CA[18] Single submitter
- c.539-173T>C Single submitter
- c.539-4G>C Single submitter
- c.755-12G>T Single submitter
- c.755-20G>A Single submitter
- c.965+266_965+270del Single submitter
- c.965+77_965+78del Single submitter
- c.966-7T>C Single submitter
- c.*66G>C Single submitter
- c.*99G>A Single submitter
- p.Ala1028= Single submitter
- p.Ala1040= Single submitter
- p.Ala1239= Single submitter
- p.Ala1271= Single submitter
- p.Ala1318= Single submitter
- p.Ala1390= Single submitter
- p.Ala1422= Single submitter
- p.Ala336= Single submitter
- p.Ala462= Single submitter
- p.Ala620= Single submitter
- p.Ala834= Single submitter
- p.Arg1076= Single submitter
- p.Arg1220= Single submitter
- p.Arg1327= Single submitter
- p.Arg1417= Single submitter
- p.Arg215= Single submitter
- p.Arg553= Single submitter
- p.Asn1013= Single submitter
- p.Asp1293= Single submitter
- p.Asp154= Single submitter
- p.Asp444= Single submitter
- p.Asp768= Single submitter
- p.Glu1066= Single submitter
- p.Glu124= Single submitter
- p.Glu296= Single submitter
- p.Glu55= Single submitter
- p.Gly1304Ser Single submitter
- p.Gly1395_Gly1396dup Single submitter
- p.Gly1407= Single submitter
- p.Gly643= Single submitter
- p.Gly811= Single submitter
- p.His847= Single submitter
- p.His898= Single submitter
- p.His988= Single submitter
- p.Leu172= Single submitter
- p.Leu196= Single submitter
- p.Leu745= Single submitter
- p.Leu77= Single submitter
- p.Lys1289= Single submitter
- p.Lys1306= Single submitter
- p.Lys1435= Single submitter
- p.Lys739= Single submitter
- p.Met1027Leu Single submitter
- p.Phe41= Single submitter
- p.Phe436= Single submitter
- p.Phe615= Single submitter
- p.Phe911= Single submitter
- p.Phe931= Single submitter
- p.Pro1038= Single submitter
- p.Pro1094= Single submitter
- p.Pro1095= Single submitter
- p.Pro1238= Single submitter
- p.Pro1240= Single submitter
- p.Pro1244= Single submitter
- p.Pro1419= Single submitter
- p.Pro188= Single submitter
- p.Pro275= Single submitter
- p.Pro351= Single submitter
- p.Pro405= Single submitter
- p.Pro457= Single submitter
- p.Pro584= Single submitter
- p.Pro638= Single submitter
- p.Pro729= Single submitter
- p.Ser1001= Single submitter
- p.Ser1017= Single submitter
- p.Ser1317= Single submitter
- p.Thr1129= Single submitter
- p.Thr328= Single submitter
- p.Thr581= Single submitter
- p.Tyr183= Single submitter
- p.Tyr277= Single submitter
- p.Tyr365= Single submitter
- p.Tyr827Phe Single submitter
- p.Val1173= Single submitter
- p.Val455= Single submitter
- p.Val505= Single submitter
- p.Val586= Single submitter
- c.2079+9G>A No assertion criteria MAGI2-related disorder
- c.2404-5T>C No assertion criteria MAGI2-related disorder
- c.3032-3C>T No assertion criteria MAGI2-related disorder
- c.3032-5C>T No assertion criteria MAGI2-related disorder
- c.3706+4C>T No assertion criteria MAGI2-related disorder
- p.Gly865= No assertion criteria MAGI2-related disorder
- p.Tyr178= No assertion criteria MAGI2-related disorder
Uncertain significance 364
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1028Val Multiple submitters nephrotic syndrome 15 ⚠
- p.Ala1247Thr Multiple submitters nephrotic syndrome 15 ⚠
- p.Ala1271Thr Multiple submitters nephrotic syndrome 15 ⚠
- p.Ala1453Thr Multiple submitters nephrotic syndrome 15 ⚠
- p.Ala274Thr Multiple submitters ⚠
- p.Ala620Gly Multiple submitters nephrotic syndrome 15 ⚠
- p.Ala809Ser Multiple submitters ⚠
- p.Ala899Pro Multiple submitters MAGI2-related disorder ⚠
- p.Arg1005His Multiple submitters ⚠
- p.Arg1370Pro Multiple submitters nephrotic syndrome 15 ⚠
- p.Arg1425Leu Multiple submitters ⚠
- p.Arg215Gln Multiple submitters ⚠
- p.Arg408Gln Multiple submitters nephrotic syndrome 15 ⚠
- p.Arg508His Multiple submitters nephrotic syndrome 15 ⚠
- p.Arg766Gln Multiple submitters ⚠
- p.Arg839Cys Multiple submitters nephrotic syndrome 15 ⚠
- p.Arg839His Multiple submitters nephrotic syndrome 15 ⚠
- p.Arg850Cys Multiple submitters nephrotic syndrome 15
- p.Arg887His Multiple submitters nephrotic syndrome 15 ⚠
- p.Asn503Ser Multiple submitters nephrotic syndrome 15 ⚠
- p.Asp1260Asn Multiple submitters ⚠
- p.Asp258Glu Multiple submitters nephrotic syndrome 15 ⚠
- p.Asp464Gly Multiple submitters ⚠
- p.Asp814Asn Multiple submitters nephrotic syndrome 15 ⚠
- p.Cys345Tyr Multiple submitters nephrotic syndrome 15 ⚠
- p.Gln388Arg Multiple submitters ⚠
- p.Glu230Asp Multiple submitters nephrotic syndrome 15 ⚠
- p.Glu309Asp Multiple submitters nephrotic syndrome 15 ⚠
- p.Glu927Gln Multiple submitters nephrotic syndrome 15 ⚠
- p.Gly102Glu Multiple submitters nephrotic syndrome 15 ⚠
- p.Gly580Ser Multiple submitters nephrotic syndrome 15 ⚠
- p.Gly794Trp Multiple submitters MAGI2-related disorder ⚠
- p.His256Arg Multiple submitters nephrotic syndrome 15 ⚠
- p.Ile498Val Multiple submitters nephrotic syndrome 15 ⚠
- p.Ile529Val Multiple submitters nephrotic syndrome 15 ⚠
- p.Ile671Thr Multiple submitters nephrotic syndrome 15 ⚠
- p.Ile694Val Multiple submitters nephrotic syndrome 15 ⚠
- p.Ile79Thr Multiple submitters nephrotic syndrome 15 ⚠
- p.Leu1134Val Multiple submitters nephrotic syndrome 15 ⚠
- p.Leu1328Phe Multiple submitters nephrotic syndrome 15 ⚠
- p.Leu666Ile Multiple submitters nephrotic syndrome 15 ⚠
- p.Lys1307Gln Multiple submitters nephrotic syndrome 15 ⚠
- p.Met1027_Pro1032dup Multiple submitters nephrotic syndrome 15
- p.Met593Val Multiple submitters nephrotic syndrome 15 ⚠
- p.Met695Thr Multiple submitters nephrotic syndrome 15 ⚠
- p.Met986Ile Multiple submitters nephrotic syndrome 15 ⚠
- p.Pro1008Ser Multiple submitters nephrotic syndrome 15 ⚠
- p.Pro1127= Multiple submitters
- p.Pro1273Leu Multiple submitters ⚠
- p.Pro1392Ser Multiple submitters nephrotic syndrome 15 ⚠
- p.Pro1419Ala Multiple submitters nephrotic syndrome 15 ⚠
- p.Pro273Ala Multiple submitters nephrotic syndrome 15 ⚠
- p.Pro275Leu Multiple submitters ⚠
- p.Pro511His Multiple submitters nephrotic syndrome 15
- p.Pro868Arg Multiple submitters nephrotic syndrome 15 ⚠
- p.Pro908Arg Multiple submitters nephrotic syndrome 15 ⚠
- p.Pro908His Multiple submitters nephrotic syndrome 15 ⚠
- p.Ser1397Asn Multiple submitters ⚠
- p.Ser707Ile Multiple submitters ⚠
- p.Ser9Gly Multiple submitters nephrotic syndrome 15 ⚠
- p.Thr1016Ile Multiple submitters nephrotic syndrome 15 ⚠
- p.Thr1129Ser Multiple submitters nephrotic syndrome 15 ⚠
- p.Thr1147= Multiple submitters
- p.Thr290Ile Multiple submitters nephrotic syndrome 15 ⚠
- p.Thr469Ile Multiple submitters nephrotic syndrome 15
- p.Thr706Met Multiple submitters nephrotic syndrome 15 ⚠
- p.Thr894Ala Multiple submitters nephrotic syndrome 15 ⚠
- p.Tyr544His Multiple submitters nephrotic syndrome 15 ⚠
- p.Tyr893Asp Multiple submitters nephrotic syndrome 15 ⚠
- p.Val1294Phe Multiple submitters nephrotic syndrome 15 ⚠
- p.Val1429Ile Multiple submitters nephrotic syndrome 15 ⚠
- p.Val248Glu Multiple submitters nephrotic syndrome 15 ⚠
- p.Val276Met Multiple submitters nephrotic syndrome 15 ⚠
- p.Val647Ile Multiple submitters nephrotic syndrome 15 ⚠
- p.Val654Leu Multiple submitters nephrotic syndrome 15 ⚠
- c.1104-3del Single submitter
- c.1225+17C>G Single submitter nephrotic syndrome 15
- c.1226-10G>C Single submitter nephrotic syndrome 15
- c.2846-10G>T Single submitter nephrotic syndrome 15
- c.302-6T>G Single submitter nephrotic syndrome 15
- c.3203+3A>G Single submitter
- c.3568-9A>C Single submitter nephrotic syndrome 15
- c.3707-10C>T Single submitter
- c.3707-9C>A Single submitter
- p.1030QSPLAQ[1] Single submitter
- p.Ala1055Glu Single submitter ⚠
- p.Ala1247= Single submitter nephrotic syndrome 15
- p.Ala1248Thr Single submitter nephrotic syndrome 15 ⚠
- p.Ala1263Thr Single submitter nephrotic syndrome 15 ⚠
- p.Ala1302Val Single submitter nephrotic syndrome 15 ⚠
- p.Ala1318Leu Single submitter nephrotic syndrome 15
- p.Ala1388Pro Single submitter ⚠
- p.Ala1388Ser Single submitter ⚠
- p.Ala1388Val Single submitter nephrotic syndrome 15 ⚠
- p.Ala1390Asp Single submitter ⚠
- p.Ala1390Val Single submitter ⚠
- p.Ala1402Thr Single submitter nephrotic syndrome 15 ⚠
- p.Ala1422fs Single submitter nephrotic syndrome 15
- p.Ala1450Ser Single submitter ⚠
- p.Ala171Thr Single submitter nephrotic syndrome 15 ⚠
- p.Ala193Thr Single submitter ⚠
- p.Ala404Ser Single submitter ⚠
- p.Ala461Pro Single submitter ⚠
- p.Ala461Thr Single submitter nephrotic syndrome 15 ⚠
- p.Ala528_Ile529insSer Single submitter nephrotic syndrome 15
- p.Ala53Val Single submitter ⚠
- p.Ala601Thr Single submitter ⚠
- p.Ala612Val Single submitter nephrotic syndrome 15 ⚠
- p.Ala712Asp Single submitter ⚠
- p.Ala849Thr Single submitter nephrotic syndrome 15 ⚠
- p.Ala900Val Single submitter ⚠
- p.Arg1005Cys Single submitter ⚠
- p.Arg1084Gln Single submitter ⚠
- p.Arg1187Lys Single submitter ⚠
- p.Arg1325Leu Single submitter nephrotic syndrome 15 ⚠
- p.Arg1327Lys Single submitter ⚠
- p.Arg1327Ser Single submitter ⚠
- p.Arg136Cys Single submitter nephrotic syndrome 15 ⚠
- p.Arg1425His Single submitter nephrotic syndrome 15 ⚠
- p.Arg1455= Single submitter
- p.Arg215Trp Single submitter ⚠
- p.Arg217Gly Single submitter nephrotic syndrome 15 ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg553Gln Single submitter ⚠
- p.Arg564Gln Single submitter ⚠
- p.Arg564Gly Single submitter ⚠
- p.Arg627Gln Single submitter
- p.Arg681Gln Single submitter nephrotic syndrome 15 ⚠
- p.Arg697Gln Single submitter ⚠
- p.Arg738Trp Single submitter ⚠
- p.Arg782Gln Single submitter ⚠
- p.Arg782Trp Single submitter ⚠
- p.Arg850His Single submitter ⚠
- p.Arg887Cys Single submitter nephrotic syndrome 15 ⚠
- p.Arg941Ser Single submitter ⚠
- p.Arg94Trp Single submitter nephrotic syndrome 15 ⚠
- p.Arg965Cys Single submitter nephrotic syndrome 15 ⚠
- p.Arg965His Single submitter ⚠
- p.Arg974Gln Single submitter
- p.Asn113His Single submitter nephrotic syndrome 15 ⚠
- p.Asn113Ser Single submitter nephrotic syndrome 15 ⚠
- p.Asn23Lys Single submitter ⚠
- p.Asn243Ser Single submitter ⚠
- p.Asn477Lys Single submitter nephrotic syndrome 15 ⚠
- p.Asn700Lys Single submitter ⚠
- p.Asn872Lys Single submitter ⚠
- p.Asn895Lys Single submitter nephrotic syndrome 15 ⚠
- p.Asn985His Single submitter ⚠
- p.Asn985Ile Single submitter ⚠
- p.Asp1105Tyr Single submitter
- p.Asp1121Tyr Single submitter nephrotic syndrome 15 ⚠
- p.Asp1128Val Single submitter nephrotic syndrome 15 ⚠
- p.Asp1260Glu Single submitter ⚠
- p.Asp1293del Single submitter nephrotic syndrome 15
- p.Asp180Gly Single submitter ⚠
- p.Asp258Val Single submitter ⚠
- p.Asp289Gly Single submitter ⚠
- p.Asp297Asn Single submitter ⚠
- p.Asp302Asn Single submitter nephrotic syndrome 15 ⚠
- p.Asp368Asn Single submitter nephrotic syndrome 15 ⚠
- p.Asp444Glu Single submitter ⚠
- p.Asp464His Single submitter ⚠
- p.Asp518Tyr Single submitter
- p.Asp621Asn Single submitter ⚠
- p.Asp621Gly Single submitter nephrotic syndrome 15 ⚠
- p.Asp741Tyr Single submitter nephrotic syndrome 15 ⚠
- p.Asp796Val Single submitter nephrotic syndrome 15 ⚠
- p.Asp814Tyr Single submitter ⚠
- p.Asp843Gly Single submitter nephrotic syndrome 15 ⚠
- p.Asp959His Single submitter ⚠
- p.Asp990= Single submitter nephrotic syndrome 15
- p.Cys1303Tyr Single submitter ⚠
- p.Cys507Ser Single submitter nephrotic syndrome 15 ⚠
- p.Cys641Ser Single submitter ⚠
- p.Gln1030Arg Single submitter nephrotic syndrome 15 ⚠
- p.Gln1041= Single submitter
- p.Gln1041Pro Single submitter ⚠
- p.Gln1077Arg Single submitter nephrotic syndrome 15 ⚠
- p.Gln1321His Single submitter nephrotic syndrome 15 ⚠
- p.Gln286Glu Single submitter nephrotic syndrome 15 ⚠
- p.Gln652Lys Single submitter ⚠
- p.Glu1234Ala Single submitter ⚠
- p.Glu1237Lys Single submitter ⚠
- p.Glu1237Ter Single submitter
- p.Glu1299Asp Single submitter ⚠
- p.Glu1403Gly Single submitter ⚠
- p.Glu1403Ter Single submitter
- p.Glu147Ala Single submitter nephrotic syndrome 15
- p.Glu161Asp Single submitter ⚠
- p.Glu167Asp Single submitter nephrotic syndrome 15 ⚠
- p.Glu235Lys Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu238_Arg239insGluGln Single submitter nephrotic syndrome 15
- p.Glu252Lys Single submitter nephrotic syndrome 15 ⚠
- p.Glu517Ala Single submitter ⚠
- p.Glu648= Single submitter nephrotic syndrome 15
- p.Glu64Ala Single submitter ⚠
- p.Glu747= Single submitter nephrotic syndrome 15
- p.Glu747Lys Single submitter ⚠
- p.Glu867Lys Single submitter nephrotic syndrome 15 ⚠
- p.Glu909Ala Single submitter ⚠
- p.Gly1064Ala Single submitter ⚠
- p.Gly1104Glu Single submitter ⚠
- p.Gly1228Asp Single submitter ⚠
- p.Gly1250Asp Single submitter ⚠
- p.Gly1261Arg Single submitter ⚠
- p.Gly1283Ser Single submitter ⚠
- p.Gly1391Arg Single submitter ⚠
- p.Gly1396_Ser1397insGly Single submitter
- p.Gly1398Asp Single submitter nephrotic syndrome 15 ⚠
- p.Gly1398Ser Single submitter ⚠
- p.Gly1404Ser Single submitter ⚠
- p.Gly1411Asp Single submitter ⚠
- p.Gly1420Glu Single submitter ⚠
- p.Gly246Arg Single submitter nephrotic syndrome 15 ⚠
- p.Gly262Asp Single submitter nephrotic syndrome 15 ⚠
- p.Gly580Arg Single submitter ⚠
- p.Gly616Ser Single submitter nephrotic syndrome 15 ⚠
- p.Gly794Arg Single submitter ⚠
- p.Gly795Glu Single submitter ⚠
- p.Gly835Ser Single submitter nephrotic syndrome 15
- p.Gly873Glu Single submitter ⚠
- p.Gly932Ser Single submitter ⚠
- p.Gly945Glu Single submitter ⚠
- p.Gly960Arg Single submitter ⚠
- p.His10Asp Single submitter ⚠
- p.His1292Pro Single submitter nephrotic syndrome 15 ⚠
- p.His1292Tyr Single submitter nephrotic syndrome 15 ⚠
- p.His486Gln Single submitter ⚠
- p.His659= Single submitter
- p.His780Tyr Single submitter nephrotic syndrome 15 ⚠
- p.His846Asn Single submitter nephrotic syndrome 15 ⚠
- p.His88Gln Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile1183Thr Single submitter ⚠
- p.Ile1214Phe Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile441Phe Single submitter ⚠
- p.Ile498Asn Single submitter ⚠
- p.Ile619Thr Single submitter ⚠
- p.Ile646Val Single submitter nephrotic syndrome 15
- p.Ile804Phe Single submitter ⚠
- p.Ile984Val Single submitter ⚠
- p.Leu1033Met Single submitter ⚠
- p.Leu1039Pro Single submitter ⚠
- p.Leu1120Val Single submitter
- p.Leu1258Arg Single submitter ⚠
- p.Leu1300Arg Single submitter nephrotic syndrome 15 ⚠
- p.Leu1442Gln Single submitter nephrotic syndrome 15 ⚠
- p.Leu283Val Single submitter ⚠
- p.Leu28Gln Single submitter ⚠
- p.Leu482Pro Single submitter nephrotic syndrome 15 ⚠
- p.Leu578Pro Single submitter nephrotic syndrome 15 ⚠
- p.Leu717Arg Single submitter ⚠
- p.Leu803Phe Single submitter ⚠
- p.Leu819_His820insIle Single submitter nephrotic syndrome 15
- p.Leu994Phe Single submitter ⚠
- p.Lys1074Arg Single submitter ⚠
- p.Lys1289Thr Single submitter ⚠
- p.Lys1435Arg Single submitter nephrotic syndrome 15 ⚠
- p.Lys14Thr Single submitter ⚠
- p.Lys284Gln Single submitter nephrotic syndrome 15 ⚠
- p.Lys315Asn Single submitter ⚠
- p.Lys33Met Single submitter nephrotic syndrome 15 ⚠
- p.Lys610Arg Single submitter ⚠
- p.Met1027Ile Single submitter ⚠
- p.Met1150Ile Single submitter ⚠
- p.Met287Thr Single submitter nephrotic syndrome 15 ⚠
- p.Met537del Single submitter nephrotic syndrome 15
- p.Met604Ile Single submitter ⚠
- p.Met604Leu Single submitter ⚠
- p.Met695Ile Single submitter nephrotic syndrome 15 ⚠
- p.Met810Val Single submitter nephrotic syndrome 15 ⚠
- p.Phe1389Cys Single submitter ⚠
- p.Phe514Leu Single submitter nephrotic syndrome 15 ⚠
- p.Phe735Ser Single submitter ⚠
- p.Pro1038Ala Single submitter ⚠
- p.Pro1047Ser Single submitter ⚠
- p.Pro1056Gln Single submitter nephrotic syndrome 15 ⚠
- p.Pro1057Ala Single submitter nephrotic syndrome 15 ⚠
- p.Pro1117Leu Single submitter nephrotic syndrome 15 ⚠
- p.Pro1127Ser Single submitter ⚠
- p.Pro1127Thr Single submitter ⚠
- p.Pro1240His Single submitter nephrotic syndrome 15 ⚠
- p.Pro1240Ser Single submitter ⚠
- p.Pro1249= Single submitter nephrotic syndrome 15
- p.Pro1264Ser Single submitter ⚠
- p.Pro1267Leu Single submitter nephrotic syndrome 15 ⚠
- p.Pro1272Gln Single submitter ⚠
- p.Pro1338fs Single submitter nephrotic syndrome 15
- p.Pro1387Leu Single submitter ⚠
- p.Pro1418Ser Single submitter nephrotic syndrome 15 ⚠
- p.Pro1423Ser Single submitter ⚠
- p.Pro1431Leu Single submitter nephrotic syndrome 15 ⚠
- p.Pro1437Ala Single submitter ⚠
- p.Pro1437Arg Single submitter nephrotic syndrome 15 ⚠
- p.Pro24Thr Single submitter ⚠
- p.Pro268Ala Single submitter nephrotic syndrome 15 ⚠
- p.Pro271Thr Single submitter nephrotic syndrome 15 ⚠
- p.Pro273Leu Single submitter ⚠