NUP160 — 417 ClinVar variants
All ClinVar germline NUP160 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 19 Benign · 4 Benign/Likely benign · 120 Likely benign · 262 Uncertain significance
Full NUP160 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 241
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 195
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 195
- NUP160 p.Arg1102His Uncertain significance Multiple submitters
- NUP160 p.Arg447Gln Uncertain significance Multiple submitters
- NUP160 p.Arg577Gln Uncertain significance Multiple submitters
- NUP160 p.Asn179Asp Uncertain significance Multiple submitters
- NUP160 p.Asp415Asn Uncertain significance Multiple submitters
- NUP160 p.Asp562Glu Uncertain significance Multiple submitters
- NUP160 p.Gln417Glu Uncertain significance Multiple submitters
-
NUP160 p.Glu769Lys
Uncertain significance
Multiple submitters
nephrotic syndrome, type 19
- NUP160 p.Ile1355Val Uncertain significance Multiple submitters
- NUP160 p.Ile413Val Uncertain significance Multiple submitters
- NUP160 p.Leu1203His Uncertain significance Multiple submitters
- NUP160 p.Leu7Val Uncertain significance Multiple submitters
-
NUP160 p.Phe1221Leu
Uncertain significance
Multiple submitters
nephrotic syndrome, type 19
- NUP160 p.Pro400Leu Uncertain significance Multiple submitters
- NUP160 p.Pro840Ser Uncertain significance Multiple submitters
- NUP160 p.Ser993Thr Uncertain significance Multiple submitters
- NUP160 p.Thr757Ala Uncertain significance Multiple submitters
- NUP160 p.Thr757Ile Uncertain significance Multiple submitters
- NUP160 p.Thr954Ile Uncertain significance Multiple submitters
- NUP160 p.Tyr673Cys Uncertain significance Multiple submitters
- NUP160 c.-6G>A Uncertain significance Single submitter
- NUP160 p.Ala1106Val Uncertain significance Single submitter
-
NUP160 p.Ala1115Pro
Uncertain significance
Single submitter
susceptibility to HIV infection
- NUP160 p.Ala1135Val Uncertain significance Single submitter
- NUP160 p.Ala1156Thr Uncertain significance Single submitter
- NUP160 p.Ala1232Asp Uncertain significance Single submitter
- NUP160 p.Ala1316Thr Uncertain significance Single submitter
- NUP160 p.Ala1373Thr Uncertain significance Single submitter
- NUP160 p.Ala196Asp Uncertain significance Single submitter
- NUP160 p.Ala196Thr Uncertain significance Single submitter
- NUP160 p.Ala3Val Uncertain significance Single submitter
- NUP160 p.Ala49Val Uncertain significance Single submitter
- NUP160 p.Ala566Ser Uncertain significance Single submitter
- NUP160 p.Ala750Thr Uncertain significance Single submitter
- NUP160 p.Arg1057Leu Uncertain significance Single submitter
- NUP160 p.Arg1082Gln Uncertain significance Single submitter
- NUP160 p.Arg1119His Uncertain significance Single submitter
- NUP160 p.Arg1139Gly Uncertain significance Single submitter
- NUP160 p.Arg1256Gln Uncertain significance Single submitter
- NUP160 p.Arg137Gln Uncertain significance Single submitter
- NUP160 p.Arg1394Gln Uncertain significance Single submitter
- NUP160 p.Arg140Thr Uncertain significance Single submitter
- NUP160 p.Arg21Ser Uncertain significance Single submitter
- NUP160 p.Arg23Lys Uncertain significance Single submitter
- NUP160 p.Arg250His Uncertain significance Single submitter
- NUP160 p.Arg301Gln Uncertain significance Single submitter
- NUP160 p.Arg311Gln Uncertain significance Single submitter
- NUP160 p.Arg346His Uncertain significance Single submitter
-
NUP160 p.Arg567Gln
Uncertain significance
Single submitter
osteopetrosis
- NUP160 p.Arg643Gln Uncertain significance Single submitter
- NUP160 p.Arg643Trp Uncertain significance Single submitter
-
NUP160 p.Arg911His
Uncertain significance
Single submitter
nephrotic syndrome, type 19
- NUP160 p.Arg914Cys Uncertain significance Single submitter
- NUP160 p.Arg914His Uncertain significance Single submitter
- NUP160 p.Arg95Cys Uncertain significance Single submitter
- NUP160 p.Asn1023Thr Uncertain significance Single submitter
-
NUP160 p.Asn1089Asp
Uncertain significance
Single submitter
nephrotic syndrome, type 19
- NUP160 p.Asn1309Thr Uncertain significance Single submitter
- NUP160 p.Asn345Thr Uncertain significance Single submitter
- NUP160 p.Asn37Ser Uncertain significance Single submitter
- NUP160 p.Asn435Asp Uncertain significance Single submitter
- NUP160 p.Asn633Asp Uncertain significance Single submitter
- NUP160 p.Asn668Thr Uncertain significance Single submitter
- NUP160 p.Asn779His Uncertain significance Single submitter
- NUP160 p.Asn88Ser Uncertain significance Single submitter
- NUP160 p.Asp1252Asn Uncertain significance Single submitter
- NUP160 p.Asp1390His Uncertain significance Single submitter
- NUP160 p.Asp213Gly Uncertain significance Single submitter
- NUP160 p.Asp564Ala Uncertain significance Single submitter
- NUP160 p.Asp623Asn Uncertain significance Single submitter
- NUP160 p.Asp727Asn Uncertain significance Single submitter
- NUP160 p.Asp859Gly Uncertain significance Single submitter
- NUP160 p.Cys101Ser Uncertain significance Single submitter
- NUP160 p.Cys439Arg Uncertain significance Single submitter
- NUP160 p.Cys748Ser Uncertain significance Single submitter
- NUP160 p.Gln1110Arg Uncertain significance Single submitter
- NUP160 p.Gln1333Arg Uncertain significance Single submitter
- NUP160 p.Gln359Glu Uncertain significance Single submitter
- NUP160 p.Gln432Pro Uncertain significance Single submitter
- NUP160 p.Gln947Arg Uncertain significance Single submitter
- NUP160 p.Glu1009Gly Uncertain significance Single submitter
- NUP160 p.Glu1018Asp Uncertain significance Single submitter
- NUP160 p.Glu1338Lys Uncertain significance Single submitter
- NUP160 p.Glu1364Asp Uncertain significance Single submitter
- NUP160 p.Glu13Lys Uncertain significance Single submitter
- NUP160 p.Glu260Asp Uncertain significance Single submitter
- NUP160 p.Glu650Val Uncertain significance Single submitter
- NUP160 p.Glu822Gly Uncertain significance Single submitter
-
NUP160 p.Glu919Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 19
- NUP160 p.Gly1189Val Uncertain significance Single submitter
- NUP160 p.Gly191Trp Uncertain significance Single submitter
- NUP160 p.Gly203Ala Uncertain significance Single submitter
- NUP160 p.Gly34Glu Uncertain significance Single submitter
- NUP160 p.Gly51Ser Uncertain significance Single submitter
- NUP160 p.Gly656Arg Uncertain significance Single submitter
- NUP160 p.His1165Arg Uncertain significance Single submitter
- NUP160 p.His1274Arg Uncertain significance Single submitter
- NUP160 p.His1283Tyr Uncertain significance Single submitter
- NUP160 p.His804Pro Uncertain significance Single submitter
- NUP160 p.His973Tyr Uncertain significance Single submitter
- NUP160 p.Ile1195Met Uncertain significance Single submitter
- NUP160 p.Ile1195Thr Uncertain significance Single submitter
- NUP160 p.Ile1217Val Uncertain significance Single submitter
- NUP160 p.Ile204Val Uncertain significance Single submitter
- NUP160 p.Ile241Val Uncertain significance Single submitter
-
NUP160 p.Ile559Leu
Uncertain significance
Single submitter
NUP160-related disorder
- NUP160 p.Ile565Leu Uncertain significance Single submitter
- NUP160 p.Ile573Thr Uncertain significance Single submitter
- NUP160 p.Ile631Leu Uncertain significance Single submitter
- NUP160 p.Ile681Val Uncertain significance Single submitter
- NUP160 p.Ile702Val Uncertain significance Single submitter
- NUP160 p.Ile801Met Uncertain significance Single submitter
- NUP160 p.Ile802Thr Uncertain significance Single submitter
- NUP160 p.Ile953Val Uncertain significance Single submitter
-
NUP160 p.Ile990Val
Uncertain significance
Single submitter
nephrotic syndrome, type 19
- NUP160 p.Leu1160Phe Uncertain significance Single submitter
- NUP160 p.Leu1185Trp Uncertain significance Single submitter
- NUP160 p.Leu1239Phe Uncertain significance Single submitter
- NUP160 p.Leu1271Phe Uncertain significance Single submitter
- NUP160 p.Leu1303Trp Uncertain significance Single submitter
- NUP160 p.Leu207Val Uncertain significance Single submitter
- NUP160 p.Leu609Met Uncertain significance Single submitter
- NUP160 p.Leu710Ile Uncertain significance Single submitter
- NUP160 p.Leu728Pro Uncertain significance Single submitter
- NUP160 p.Leu741Phe Uncertain significance Single submitter
- NUP160 p.Leu80Val Uncertain significance Single submitter
- NUP160 p.Leu831Val Uncertain significance Single submitter
- NUP160 p.Leu966Gln Uncertain significance Single submitter
- NUP160 p.Lys1215Arg Uncertain significance Single submitter
- NUP160 p.Lys1266Glu Uncertain significance Single submitter
-
NUP160 p.Lys1297Asn
Uncertain significance
Single submitter
nephrotic syndrome, type 19
- NUP160 p.Lys1381Arg Uncertain significance Single submitter
- NUP160 p.Lys1388Asn Uncertain significance Single submitter
- NUP160 p.Lys72Asn Uncertain significance Single submitter
- NUP160 p.Met1072Ile Uncertain significance Single submitter
- NUP160 p.Met1072Val Uncertain significance Single submitter
- NUP160 p.Met1347Val Uncertain significance Single submitter
- NUP160 p.Met217Thr Uncertain significance Single submitter
- NUP160 p.Met593Leu Uncertain significance Single submitter
- NUP160 p.Met621Arg Uncertain significance Single submitter
- NUP160 p.Met621Val Uncertain significance Single submitter
- NUP160 p.Met653Val Uncertain significance Single submitter
- NUP160 p.Met667Lys Uncertain significance Single submitter
- NUP160 p.Met667Val Uncertain significance Single submitter
- NUP160 p.Phe11Ser Uncertain significance Single submitter
- NUP160 p.Phe390Ser Uncertain significance Single submitter
- NUP160 p.Phe61Leu Uncertain significance Single submitter
- NUP160 p.Pro105Ala Uncertain significance Single submitter
- NUP160 p.Pro1120Leu Uncertain significance Single submitter
- NUP160 p.Pro1136Arg Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
-
NUP160 p.Arg1001Gln
Uncertain significance
Multiple submitters
NUP160-related disorder
-
NUP160 p.Arg1061His
Uncertain significance
Multiple submitters
nephrotic syndrome, type 19
- NUP160 p.Arg577Trp Uncertain significance Multiple submitters
- NUP160 p.Leu1155Phe Uncertain significance Multiple submitters
- NUP160 p.Phe493Leu Uncertain significance Multiple submitters
- NUP160 p.Phe908Leu Uncertain significance Multiple submitters
- NUP160 p.Ala1250Thr Uncertain significance Single submitter
- NUP160 p.Ala566Pro Uncertain significance Single submitter
- NUP160 p.Arg1010His Uncertain significance Single submitter
- NUP160 p.Arg1073Gln Uncertain significance Single submitter
- NUP160 p.Arg116Pro Uncertain significance Single submitter
- NUP160 p.Arg311Trp Uncertain significance Single submitter
- NUP160 p.Arg567Trp Uncertain significance Single submitter
- NUP160 p.Asp1040Ala Uncertain significance Single submitter
- NUP160 p.Asp1192His Uncertain significance Single submitter
- NUP160 p.Cys1008Phe Uncertain significance Single submitter
- NUP160 p.Gln1227Pro Uncertain significance Single submitter
- NUP160 p.Glu1247Lys Uncertain significance Single submitter
- NUP160 p.Glu1253Gly Uncertain significance Single submitter
- NUP160 p.Glu391Lys Uncertain significance Single submitter
- NUP160 p.Gly1336Arg Uncertain significance Single submitter
- NUP160 p.Gly529Arg Uncertain significance Single submitter
- NUP160 p.Gly957Ser Benign Single submitter
- NUP160 p.Gly957Val Likely benign Single submitter
- NUP160 p.His1044Gln Uncertain significance Single submitter
- NUP160 p.Ile1031Thr Uncertain significance Single submitter
- NUP160 p.Ile946Met Uncertain significance Single submitter
- NUP160 p.Phe1335Leu Uncertain significance Single submitter
- NUP160 p.Phe337Val Uncertain significance Single submitter
- NUP160 p.Phe806Leu Uncertain significance Single submitter
- NUP160 p.Pro1124Ser Uncertain significance Single submitter
- NUP160 p.Ser1168Leu Uncertain significance Single submitter
- NUP160 p.Ser1177Ala Uncertain significance Single submitter
- NUP160 p.Ser1259Pro Uncertain significance Single submitter
- NUP160 p.Ser62Phe Uncertain significance Single submitter
- NUP160 p.Ser766Pro Likely benign Single submitter
- NUP160 p.Ser838Arg Uncertain significance Single submitter
- NUP160 p.Thr584Ala Uncertain significance Single submitter
- NUP160 p.Val1017Leu Uncertain significance Single submitter
- NUP160 p.Val1109Gly Uncertain significance Single submitter
- NUP160 p.Val294Asp Uncertain significance Single submitter
- NUP160 p.Val932Leu Uncertain significance Single submitter
All NUP160 variants
Pathogenic 5
- p.Arg331Ter Single submitter
- p.Glu1315Ter Single submitter
- p.Glu1383fs Single submitter nephrotic syndrome, type 19
- p.Glu549fs Single submitter
- c.1077+5G>A No assertion criteria nephrotic syndrome, type 19
Likely pathogenic 3
- c.2271_2273+1del Single submitter
- p.Ser1011Ter Single submitter nephrotic syndrome, type 19
- p.Gln726Ter No assertion criteria NUP160-related disorder
Conflicting classifications of pathogenicity 4
- p.Arg116His Single submitter ⚠
- p.Ile635Val Single submitter ⚠
- p.Ile665Val Single submitter ⚠
- p.Pro247Leu Single submitter NUP160-related disorder ⚠
Benign 19
- c.2574+11T>G Multiple submitters nephrotic syndrome, type 19
- p.Arg632= Multiple submitters
- p.Lys1381= Multiple submitters
- p.Lys627= Multiple submitters
- p.Thr317Ala Multiple submitters nephrotic syndrome, type 19
- c.1850+10A>C Single submitter
- c.212+17G>T Single submitter
- c.2344+15A>G Single submitter
- c.2345-9_2345-4del Single submitter
- c.2674-11del Single submitter
- c.2794-5G>A Single submitter
- c.3644+15del Single submitter
- c.3747-5del Single submitter
- c.841-16_841-15dup Single submitter
- p.Asp564= Single submitter
- p.Asp756= Single submitter
- p.Gly957Ser Single submitter ⚠
- p.Leu848= Single submitter
- c.423+139C>T No assertion criteria NUP160-related disorder
Benign/Likely benign 4
- c.2273+19A>G Multiple submitters
- p.Ala193= Multiple submitters
- p.Ala366= Multiple submitters
- p.Tyr1352= Multiple submitters
Likely benign 120
- c.2140-11A>G Multiple submitters
- c.3888+7G>A Multiple submitters
- p.Pro601Leu Multiple submitters
- c.100+12G>A Single submitter
- c.101-9A>G Single submitter
- c.1077+15C>A Single submitter
- c.1176-5T>C Single submitter
- c.1260+12C>T Single submitter
- c.1260+6_1260+7insTA Single submitter
- c.1329+15T>G Single submitter
- c.1414-5G>T Single submitter
- c.1585-8A>G Single submitter
- c.1851-4A>G Single submitter
- c.1979-19A>G Single submitter
- c.1979-4del Single submitter
- c.213-19A>G Single submitter
- c.2273+15C>T Single submitter
- c.2344+17G>A Single submitter
- c.2505-15T>C Single submitter
- c.2574+11T>C Single submitter
- c.2574+20T>G Single submitter
- c.2575-11A>G Single submitter
- c.2575-20G>T Single submitter
- c.2673+10A>G Single submitter
- c.2793+14T>C Single submitter
- c.2793+16G>A Single submitter
- c.2889+17A>C Single submitter
- c.3081+6T>G Single submitter
- c.3187+9T>C Single submitter
- c.3188-15A>G Single submitter
- c.3410-11T>G Single submitter
- c.3521-15T>C Single submitter
- c.3644+15A>T Single submitter
- c.3746+19A>G Single submitter
- c.3746+9C>G Single submitter
- c.3747-19C>A Single submitter
- c.3747-19C>G Single submitter
- c.3747-20T>G Single submitter
- c.3888+12A>G Single submitter
- c.3888+7G>C Single submitter
- c.3889-14C>T Single submitter
- c.4014+11A>G Single submitter
- c.4014+14A>G Single submitter
- c.4014+8_4014+9insATGT Single submitter
- c.4119+15del Single submitter
- c.423+128T>G Single submitter
- c.423+19A>G Single submitter
- c.646+8T>G Single submitter
- c.647-16T>G Single submitter
- c.725+12C>T Single submitter
- c.840+16A>G Single submitter
- c.999+12_999+15del Single submitter
- c.999+13T>C Single submitter
- p.Ala1169= Single submitter
- p.Ala1361= Single submitter
- p.Ala172= Single submitter
- p.Ala182Thr Single submitter
- p.Ala255= Single submitter
- p.Ala36= Single submitter
- p.Ala42= Single submitter
- p.Ala49= Single submitter
- p.Arg1073= Single submitter
- p.Asn393= Single submitter
- p.Asn488= Single submitter
- p.Asn517= Single submitter
- p.Asn597= Single submitter
- p.Asn871Ser Single submitter
- p.Asp1015= Single submitter
- p.Asp1148= Single submitter
- p.Cys697= Single submitter
- p.Gln1360= Single submitter
- p.Gln432Arg Single submitter
- p.Gln473= Single submitter
- p.Gln505= Single submitter
- p.Gln815= Single submitter
- p.Glu1224= Single submitter
- p.Glu1263= Single submitter
- p.Glu581= Single submitter
- p.Glu759= Single submitter
- p.Gly679= Single submitter
- p.Gly957Val Single submitter ⚠
- p.His128= Single submitter
- p.Ile336Val Single submitter
- p.Ile565= Single submitter
- p.Ile696= Single submitter
- p.Leu1000= Single submitter
- p.Leu1205= Single submitter
- p.Leu1239= Single submitter
- p.Leu455= Single submitter
- p.Leu60= Single submitter
- p.Leu735= Single submitter
- p.Leu741= Single submitter
- p.Leu818= Single submitter
- p.Leu864= Single submitter
- p.Lys309= Single submitter
- p.Lys655= Single submitter
- p.Pro1351= Single submitter
- p.Pro601= Single submitter
- p.Ser219= Single submitter
- p.Ser766Pro Single submitter ⚠
- p.Thr154Ala Single submitter
- p.Thr184Ala Single submitter
- p.Thr234= Single submitter
- p.Thr29= Single submitter
- p.Thr303= Single submitter
- p.Tyr1091= Single submitter
- p.Tyr1295= Single submitter
- p.Val1029= Single submitter
- p.Val103Ile Single submitter
- p.Val1182= Single submitter
- c.1851-3T>C No assertion criteria NUP160-related disorder
- c.2140-3T>C No assertion criteria NUP160-related disorder
- c.2505-6G>A No assertion criteria NUP160-related disorder
- c.2574+8C>G No assertion criteria NUP160-related disorder
- c.3410-4A>G No assertion criteria NUP160-related disorder
- c.423+105C>T No assertion criteria NUP160-related disorder
- p.Asn819= No assertion criteria NUP160-related disorder
- p.Gln230= No assertion criteria NUP160-related disorder
- p.Leu285= No assertion criteria NUP160-related disorder
- p.Val1170= No assertion criteria NUP160-related disorder
Uncertain significance 262
- p.Arg1001Gln Multiple submitters NUP160-related disorder ⚠
- p.Arg1061His Multiple submitters nephrotic syndrome, type 19 ⚠
- p.Arg1102His Multiple submitters ⚠
- p.Arg447Gln Multiple submitters ⚠
- p.Arg577Gln Multiple submitters ⚠
- p.Arg577Trp Multiple submitters ⚠
- p.Asn179Asp Multiple submitters ⚠
- p.Asp415Asn Multiple submitters ⚠
- p.Asp562Glu Multiple submitters ⚠
- p.Gln417Glu Multiple submitters ⚠
- p.Glu769Lys Multiple submitters nephrotic syndrome, type 19 ⚠
- p.Ile1355Val Multiple submitters ⚠
- p.Ile413Val Multiple submitters ⚠
- p.Leu1155Phe Multiple submitters ⚠
- p.Leu1203His Multiple submitters ⚠
- p.Leu7Val Multiple submitters ⚠
- p.Phe1221Leu Multiple submitters nephrotic syndrome, type 19 ⚠
- p.Phe493Leu Multiple submitters ⚠
- p.Phe908Leu Multiple submitters ⚠
- p.Pro400Leu Multiple submitters ⚠
- p.Pro840Ser Multiple submitters ⚠
- p.Ser993Thr Multiple submitters ⚠
- p.Thr757Ala Multiple submitters ⚠
- p.Thr757Ile Multiple submitters ⚠
- p.Thr954Ile Multiple submitters ⚠
- p.Tyr673Cys Multiple submitters ⚠
- c.2674-6C>T Single submitter
- c.3888+6C>T Single submitter
- c.4120-3T>C Single submitter
- c.47C>G Single submitter
- c.65G>A Single submitter
- c.725+3G>A Single submitter
- c.999+3A>G Single submitter
- c.-6G>A Single submitter ⚠
- p.Ala1106Val Single submitter ⚠
- p.Ala1115Pro Single submitter susceptibility to HIV infection ⚠
- p.Ala1135Val Single submitter ⚠
- p.Ala1156Thr Single submitter ⚠
- p.Ala1232Asp Single submitter ⚠
- p.Ala1250Thr Single submitter ⚠
- p.Ala1316Thr Single submitter ⚠
- p.Ala1373Thr Single submitter ⚠
- p.Ala196Asp Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Ala566Pro Single submitter ⚠
- p.Ala566Ser Single submitter ⚠
- p.Ala750Thr Single submitter ⚠
- p.Arg1010His Single submitter ⚠
- p.Arg1057Cys Single submitter
- p.Arg1057His Single submitter
- p.Arg1057Leu Single submitter ⚠
- p.Arg1073Gln Single submitter ⚠
- p.Arg1082Gln Single submitter ⚠
- p.Arg1119His Single submitter ⚠
- p.Arg1139Gly Single submitter ⚠
- p.Arg116Pro Single submitter ⚠
- p.Arg1256Gln Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg1394Gln Single submitter ⚠
- p.Arg140Thr Single submitter ⚠
- p.Arg21Ser Single submitter ⚠
- p.Arg23Lys Single submitter ⚠
- p.Arg250His Single submitter ⚠
- p.Arg275Gln Single submitter
- p.Arg301Gln Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg567Gln Single submitter osteopetrosis ⚠
- p.Arg567Trp Single submitter ⚠
- p.Arg643Gln Single submitter ⚠
- p.Arg643Trp Single submitter ⚠
- p.Arg709Ser Single submitter
- p.Arg876Ter Single submitter nephrotic syndrome, type 19
- p.Arg911His Single submitter nephrotic syndrome, type 19 ⚠
- p.Arg914Cys Single submitter ⚠
- p.Arg914His Single submitter ⚠
- p.Arg95Cys Single submitter ⚠
- p.Asn1023Thr Single submitter ⚠
- p.Asn1089Asp Single submitter nephrotic syndrome, type 19 ⚠
- p.Asn1309Thr Single submitter ⚠
- p.Asn345Thr Single submitter ⚠
- p.Asn37Ser Single submitter ⚠
- p.Asn435Asp Single submitter ⚠
- p.Asn633Asp Single submitter ⚠
- p.Asn668Thr Single submitter ⚠
- p.Asn779His Single submitter ⚠
- p.Asn88Ser Single submitter ⚠
- p.Asp1040Ala Single submitter ⚠
- p.Asp1192His Single submitter ⚠
- p.Asp1252Asn Single submitter ⚠
- p.Asp1325Gly Single submitter
- p.Asp1390His Single submitter ⚠
- p.Asp213Gly Single submitter ⚠
- p.Asp371Val Single submitter nephrotic syndrome, type 19
- p.Asp564Ala Single submitter ⚠
- p.Asp623Asn Single submitter ⚠
- p.Asp727Asn Single submitter ⚠
- p.Asp859Gly Single submitter ⚠
- p.Cys1008Phe Single submitter ⚠
- p.Cys101Ser Single submitter ⚠
- p.Cys439Arg Single submitter ⚠
- p.Cys748Ser Single submitter ⚠
- p.Cys852Ser Single submitter
- p.Gln1110Arg Single submitter ⚠
- p.Gln1227Pro Single submitter ⚠
- p.Gln1333Arg Single submitter ⚠
- p.Gln359Glu Single submitter ⚠
- p.Gln432Pro Single submitter ⚠
- p.Gln947Arg Single submitter ⚠
- p.Glu1009Gly Single submitter ⚠
- p.Glu1018Asp Single submitter ⚠
- p.Glu1247Lys Single submitter ⚠
- p.Glu1253Gly Single submitter ⚠
- p.Glu1338Lys Single submitter ⚠
- p.Glu1364Asp Single submitter ⚠
- p.Glu13Lys Single submitter ⚠
- p.Glu260Asp Single submitter ⚠
- p.Glu391Lys Single submitter ⚠
- p.Glu469Gly Single submitter
- p.Glu650Val Single submitter ⚠
- p.Glu79_Glu83del Single submitter
- p.Glu822Gly Single submitter ⚠
- p.Glu919Lys Single submitter nephrotic syndrome, type 19 ⚠
- p.Gly1189Val Single submitter ⚠
- p.Gly1336Arg Single submitter ⚠
- p.Gly191Trp Single submitter ⚠
- p.Gly203Ala Single submitter ⚠
- p.Gly34Glu Single submitter ⚠
- p.Gly51Ser Single submitter ⚠
- p.Gly529Arg Single submitter ⚠
- p.Gly656Arg Single submitter ⚠
- p.His1044Gln Single submitter ⚠
- p.His1165Arg Single submitter ⚠
- p.His1274Arg Single submitter ⚠
- p.His1283Tyr Single submitter ⚠
- p.His804Pro Single submitter ⚠
- p.His973Arg Single submitter
- p.His973Tyr Single submitter ⚠
- p.Ile1031Thr Single submitter ⚠
- p.Ile1195Met Single submitter ⚠
- p.Ile1195Thr Single submitter ⚠
- p.Ile1217Val Single submitter ⚠
- p.Ile204Val Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile559Leu Single submitter NUP160-related disorder ⚠
- p.Ile565Leu Single submitter ⚠
- p.Ile573fs Single submitter nephrotic syndrome, type 19
- p.Ile573Thr Single submitter ⚠
- p.Ile631Leu Single submitter ⚠
- p.Ile681Val Single submitter ⚠
- p.Ile702Val Single submitter ⚠
- p.Ile801Met Single submitter ⚠
- p.Ile802Thr Single submitter ⚠
- p.Ile946Met Single submitter ⚠
- p.Ile953Val Single submitter ⚠
- p.Ile990Val Single submitter nephrotic syndrome, type 19 ⚠
- p.Leu1160Phe Single submitter ⚠
- p.Leu1185Trp Single submitter ⚠
- p.Leu1239Phe Single submitter ⚠
- p.Leu1271Phe Single submitter ⚠
- p.Leu1303Trp Single submitter ⚠
- p.Leu1306Phe Single submitter
- p.Leu207Val Single submitter ⚠
- p.Leu609Met Single submitter ⚠
- p.Leu710Ile Single submitter ⚠
- p.Leu728Pro Single submitter ⚠
- p.Leu741Phe Single submitter ⚠
- p.Leu80Val Single submitter ⚠
- p.Leu831Val Single submitter ⚠
- p.Leu857= Single submitter
- p.Leu90Ser Single submitter
- p.Leu966Gln Single submitter ⚠
- p.Lys1215Arg Single submitter ⚠
- p.Lys1266Glu Single submitter ⚠
- p.Lys1297Asn Single submitter nephrotic syndrome, type 19 ⚠
- p.Lys1381Arg Single submitter ⚠
- p.Lys1388Asn Single submitter ⚠
- p.Lys72Asn Single submitter ⚠
- p.Met1072Ile Single submitter ⚠
- p.Met1072Val Single submitter ⚠
- p.Met1347Val Single submitter ⚠
- p.Met217Thr Single submitter ⚠
- p.Met593Leu Single submitter ⚠
- p.Met621Arg Single submitter ⚠
- p.Met621Val Single submitter ⚠
- p.Met653Val Single submitter ⚠
- p.Met667Lys Single submitter ⚠
- p.Met667Val Single submitter ⚠
- p.Phe11Ser Single submitter ⚠
- p.Phe1335Leu Single submitter ⚠
- p.Phe337Val Single submitter ⚠
- p.Phe390Ser Single submitter ⚠
- p.Phe61Leu Single submitter ⚠
- p.Phe806Leu Single submitter ⚠
- p.Pro105Ala Single submitter ⚠
- p.Pro1120Leu Single submitter ⚠
- p.Pro1124Ser Single submitter ⚠
- p.Pro1136Arg Single submitter ⚠
- p.Pro1167Ser Single submitter ⚠
- p.Pro1286Thr Single submitter ⚠
- p.Pro1346Ala Single submitter ⚠
- p.Pro198Ser Single submitter ⚠
- p.Pro22Arg Single submitter ⚠
- p.Pro419Ser Single submitter
- p.Pro634Leu Single submitter
- p.Pro924Arg Single submitter ⚠
- p.Ser1168Leu Single submitter ⚠
- p.Ser1177Ala Single submitter ⚠
- p.Ser1248Tyr Single submitter ⚠
- p.Ser1259Pro Single submitter ⚠
- p.Ser1354Phe Single submitter ⚠
- p.Ser136Phe Single submitter ⚠
- p.Ser147Gly Single submitter ⚠
- p.Ser15Arg Single submitter ⚠
- p.Ser183Cys Single submitter ⚠
- p.Ser246Leu Single submitter ⚠
- p.Ser32Arg Single submitter ⚠
- p.Ser456Ala Single submitter ⚠
- p.Ser458Arg Single submitter ⚠
- p.Ser538Phe Single submitter ⚠
- p.Ser62Phe Single submitter ⚠
- p.Ser746Ile Single submitter
- p.Ser773Thr Single submitter ⚠
- p.Ser783Pro Single submitter ⚠
- p.Ser838Arg Single submitter ⚠
- p.Thr1193Ala Single submitter ⚠
- p.Thr1206Met Single submitter ⚠
- p.Thr1260Ile Single submitter ⚠
- p.Thr370= Single submitter
- p.Thr434Ala Single submitter ⚠
- p.Thr584Ala Single submitter ⚠
- p.Thr73Ala Single submitter ⚠
- p.Thr751Ala Single submitter ⚠
- p.Thr751Ile Single submitter ⚠
- p.Thr886Ala Single submitter ⚠
- p.Thr886Ile Single submitter ⚠
- p.Thr950Ala Single submitter ⚠
- p.Trp716Gly Single submitter ⚠
- p.Tyr1091Phe Single submitter ⚠
- p.Tyr347Cys Single submitter ⚠
- p.Tyr479Cys Single submitter ⚠
- p.Tyr984Cys Single submitter ⚠
- p.Val1017Leu Single submitter ⚠
- p.Val103Phe Single submitter ⚠
- p.Val1066Ala Single submitter
- p.Val1109Gly Single submitter ⚠
- p.Val1109Leu Single submitter ⚠
- p.Val1172Leu Single submitter ⚠
- p.Val159Ala Single submitter ⚠
- p.Val218Met Single submitter ⚠
- p.Val256Ile Single submitter ⚠
- p.Val294Asp Single submitter ⚠
- p.Val294Ile Single submitter ⚠
- p.Val39Leu Single submitter ⚠
- p.Val401Leu Single submitter ⚠
- p.Val43Ile Single submitter ⚠
- p.Val921Met Single submitter ⚠
- p.Val932Leu Single submitter ⚠
- c.423+71G>C No assertion criteria NUP160-related disorder