NUP205 — 649 ClinVar variants
All ClinVar germline NUP205 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →
2 Likely pathogenic · 10 Conflicting · 113 Benign · 21 Benign/Likely benign · 204 Likely benign · 299 Uncertain significance
Full NUP205 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 282
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.
- NUP205 p.Ala1970Thr Conflicting Single submitter
- NUP205 p.Asn1019Ser Conflicting Single submitter
- NUP205 p.Asn1759Ser Conflicting Single submitter
- NUP205 p.Asn522Ser Conflicting Single submitter
- NUP205 p.Gln1628Arg Conflicting Single submitter
- NUP205 p.Gln737His Conflicting Single submitter
- NUP205 p.Phe1600Tyr Conflicting Single submitter
-
NUP205 p.Pro164Ser
Conflicting
Single submitter
nephrotic syndrome, type 13
Predictors lean, ClinVar uncertain 220
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 220
-
NUP205 p.Ala2Val
Uncertain significance
Multiple submitters
nephrotic syndrome, type 13
- NUP205 p.Ala651Glu Uncertain significance Multiple submitters
- NUP205 p.Ala661Gly Uncertain significance Multiple submitters
- NUP205 p.Arg1534His Uncertain significance Multiple submitters
- NUP205 p.Arg1591His Uncertain significance Multiple submitters
- NUP205 p.Arg1661His Uncertain significance Multiple submitters
- NUP205 p.Arg965Cys Uncertain significance Multiple submitters
- NUP205 p.Asn1885Ser Uncertain significance Multiple submitters
- NUP205 p.Asn412Ser Uncertain significance Multiple submitters
- NUP205 p.Gln63His Uncertain significance Multiple submitters
- NUP205 p.Glu1194Gly Uncertain significance Multiple submitters
- NUP205 p.Gly1043Ala Uncertain significance Multiple submitters
- NUP205 p.Gly969Val Uncertain significance Multiple submitters
- NUP205 p.Ile1122Val Uncertain significance Multiple submitters
- NUP205 p.Ile1679Val Uncertain significance Multiple submitters
-
NUP205 p.Ile1749Thr
Uncertain significance
Multiple submitters
nephrotic syndrome, type 13
- NUP205 p.Ile193Met Uncertain significance Multiple submitters
- NUP205 p.Leu38Phe Uncertain significance Multiple submitters
- NUP205 p.Pro1544Thr Uncertain significance Multiple submitters
- NUP205 p.Thr257Lys Uncertain significance Multiple submitters
- NUP205 p.Thr604Met Uncertain significance Multiple submitters
- NUP205 p.Val1526Ile Uncertain significance Multiple submitters
- NUP205 p.Ala1035Thr Uncertain significance Single submitter
- NUP205 p.Ala1336Thr Uncertain significance Single submitter
- NUP205 p.Ala1444Gly Uncertain significance Single submitter
- NUP205 p.Ala1475Ser Uncertain significance Single submitter
- NUP205 p.Ala1623Gly Uncertain significance Single submitter
- NUP205 p.Ala1623Val Uncertain significance Single submitter
- NUP205 p.Ala1636Val Uncertain significance Single submitter
- NUP205 p.Ala1941Thr Uncertain significance Single submitter
- NUP205 p.Ala1965Asp Uncertain significance Single submitter
- NUP205 p.Ala1967Thr Uncertain significance Single submitter
- NUP205 p.Ala2Gly Uncertain significance Single submitter
- NUP205 p.Ala334Ser Uncertain significance Single submitter
- NUP205 p.Ala358Val Uncertain significance Single submitter
- NUP205 p.Ala35Val Uncertain significance Single submitter
- NUP205 p.Ala684Gly Uncertain significance Single submitter
- NUP205 p.Ala851Val Uncertain significance Single submitter
- NUP205 p.Arg1047Thr Uncertain significance Single submitter
- NUP205 p.Arg1179His Uncertain significance Single submitter
- NUP205 p.Arg1206Gln Uncertain significance Single submitter
- NUP205 p.Arg1222Trp Uncertain significance Single submitter
- NUP205 p.Arg1234Lys Uncertain significance Single submitter
- NUP205 p.Arg1312Cys Uncertain significance Single submitter
- NUP205 p.Arg1493Met Uncertain significance Single submitter
- NUP205 p.Arg154Gln Uncertain significance Single submitter
- NUP205 p.Arg1591Cys Uncertain significance Single submitter
- NUP205 p.Arg1729Cys Uncertain significance Single submitter
- NUP205 p.Arg172Cys Uncertain significance Single submitter
- NUP205 p.Arg172Gly Uncertain significance Single submitter
- NUP205 p.Arg1796Trp Uncertain significance Single submitter
- NUP205 p.Arg1808Cys Uncertain significance Single submitter
- NUP205 p.Arg1878Cys Uncertain significance Single submitter
- NUP205 p.Arg1906His Uncertain significance Single submitter
- NUP205 p.Arg1928Ser Uncertain significance Single submitter
- NUP205 p.Arg2004His Uncertain significance Single submitter
- NUP205 p.Arg206Lys Uncertain significance Single submitter
- NUP205 p.Arg291Gln Uncertain significance Single submitter
- NUP205 p.Arg313His Uncertain significance Single submitter
- NUP205 p.Arg490His Uncertain significance Single submitter
- NUP205 p.Arg615Pro Uncertain significance Single submitter
- NUP205 p.Arg677Ser Uncertain significance Single submitter
- NUP205 p.Arg697Gln Uncertain significance Single submitter
- NUP205 p.Arg740Lys Uncertain significance Single submitter
- NUP205 p.Arg748His Uncertain significance Single submitter
- NUP205 p.Arg84Gly Uncertain significance Single submitter
- NUP205 p.Arg889Thr Uncertain significance Single submitter
- NUP205 p.Arg980Cys Uncertain significance Single submitter
- NUP205 p.Arg980His Uncertain significance Single submitter
- NUP205 p.Asn1130His Uncertain significance Single submitter
- NUP205 p.Asn1969Ser Uncertain significance Single submitter
- NUP205 p.Asn261Ser Uncertain significance Single submitter
- NUP205 p.Asn429Asp Uncertain significance Single submitter
- NUP205 p.Asp1325Tyr Uncertain significance Single submitter
- NUP205 p.Asp1693Asn Uncertain significance Single submitter
- NUP205 p.Asp1736Gly Uncertain significance Single submitter
- NUP205 p.Asp293Ala Uncertain significance Single submitter
- NUP205 p.Cys1585Tyr Uncertain significance Single submitter
- NUP205 p.Gln1208His Uncertain significance Single submitter
- NUP205 p.Gln1224His Uncertain significance Single submitter
- NUP205 p.Gln1308Arg Uncertain significance Single submitter
- NUP205 p.Gln1348Arg Uncertain significance Single submitter
- NUP205 p.Gln1640Glu Uncertain significance Single submitter
- NUP205 p.Gln1647Glu Uncertain significance Single submitter
- NUP205 p.Gln1705Arg Uncertain significance Single submitter
- NUP205 p.Gln1870Arg Uncertain significance Single submitter
- NUP205 p.Gln1997His Uncertain significance Single submitter
- NUP205 p.Gln305His Uncertain significance Single submitter
- NUP205 p.Gln342His Uncertain significance Single submitter
- NUP205 p.Gln525Glu Uncertain significance Single submitter
- NUP205 p.Gln709Arg Uncertain significance Single submitter
- NUP205 p.Gln881Glu Uncertain significance Single submitter
- NUP205 p.Glu1326Lys Uncertain significance Single submitter
- NUP205 p.Glu1437Lys Uncertain significance Single submitter
- NUP205 p.Glu1748Gly Uncertain significance Single submitter
- NUP205 p.Glu1762Ala Uncertain significance Single submitter
- NUP205 p.Glu1762Lys Uncertain significance Single submitter
- NUP205 p.Glu200Ala Uncertain significance Single submitter
- NUP205 p.Glu205Asp Uncertain significance Single submitter
- NUP205 p.Glu216Gln Uncertain significance Single submitter
- NUP205 p.Glu351Asp Uncertain significance Single submitter
- NUP205 p.Glu567Lys Uncertain significance Single submitter
-
NUP205 p.Glu690Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 13
- NUP205 p.Glu962Gly Uncertain significance Single submitter
- NUP205 p.Gly15Ser Uncertain significance Single submitter
- NUP205 p.Gly1668Ala Uncertain significance Single submitter
- NUP205 p.Gly1951Ala Uncertain significance Single submitter
- NUP205 p.Gly686Ser Uncertain significance Single submitter
- NUP205 p.Gly724Val Uncertain significance Single submitter
- NUP205 p.Gly79Ser Uncertain significance Single submitter
- NUP205 p.Gly969Glu Uncertain significance Single submitter
- NUP205 p.His441Arg Uncertain significance Single submitter
- NUP205 p.His621Tyr Uncertain significance Single submitter
- NUP205 p.Ile103Val Uncertain significance Single submitter
- NUP205 p.Ile1185Val Uncertain significance Single submitter
- NUP205 p.Ile1189Val Uncertain significance Single submitter
- NUP205 p.Ile1249Thr Uncertain significance Single submitter
- NUP205 p.Ile1249Val Uncertain significance Single submitter
- NUP205 p.Ile150Leu Uncertain significance Single submitter
- NUP205 p.Ile1659Val Uncertain significance Single submitter
- NUP205 p.Ile1756Met Uncertain significance Single submitter
- NUP205 p.Ile1896Leu Uncertain significance Single submitter
- NUP205 p.Ile1968Val Uncertain significance Single submitter
- NUP205 p.Ile20Val Uncertain significance Single submitter
- NUP205 p.Ile250Thr Uncertain significance Single submitter
- NUP205 p.Ile284Val Uncertain significance Single submitter
- NUP205 p.Ile545Thr Uncertain significance Single submitter
- NUP205 p.Ile685Val Uncertain significance Single submitter
- NUP205 p.Ile694Met Uncertain significance Single submitter
- NUP205 p.Leu1037Val Uncertain significance Single submitter
- NUP205 p.Leu1062Val Uncertain significance Single submitter
- NUP205 p.Leu13Val Uncertain significance Single submitter
- NUP205 p.Leu1539Ser Uncertain significance Single submitter
- NUP205 p.Leu1701Val Uncertain significance Single submitter
- NUP205 p.Leu1854Ser Uncertain significance Single submitter
- NUP205 p.Leu1892Phe Uncertain significance Single submitter
- NUP205 p.Leu271Phe Uncertain significance Single submitter
- NUP205 p.Leu325His Uncertain significance Single submitter
- NUP205 p.Leu573Ile Uncertain significance Single submitter
- NUP205 p.Leu673Met Uncertain significance Single submitter
- NUP205 p.Leu714Val Uncertain significance Single submitter
- NUP205 p.Leu872Pro Uncertain significance Single submitter
- NUP205 p.Leu874Val Uncertain significance Single submitter
- NUP205 p.Lys1181Arg Uncertain significance Single submitter
- NUP205 p.Lys1402Asn Uncertain significance Single submitter
- NUP205 p.Lys1409Glu Uncertain significance Single submitter
- NUP205 p.Lys1565Arg Uncertain significance Single submitter
- NUP205 p.Lys18Arg Uncertain significance Single submitter
- NUP205 p.Met1147Val Uncertain significance Single submitter
- NUP205 p.Met1256Thr Uncertain significance Single submitter
Predictors split 54
The independent predictors disagree with each other — read with care.
-
NUP205 p.Ala274Val
Uncertain significance
Multiple submitters
nephrotic syndrome, type 13
- NUP205 p.Arg1206Trp Uncertain significance Multiple submitters
- NUP205 p.Ile1314Thr Likely benign Multiple submitters
- NUP205 p.Ile923Thr Uncertain significance Multiple submitters
-
NUP205 p.Ile987Met
Uncertain significance
Multiple submitters
nephrotic syndrome, type 13
-
NUP205 p.Leu818Pro
Uncertain significance
Multiple submitters
nephrotic syndrome, type 13
- NUP205 p.Lys1013Asn Benign Multiple submitters
- NUP205 p.Ala94Gly Conflicting Single submitter
- NUP205 p.Arg1133Gln Uncertain significance Single submitter
- NUP205 p.Arg1133Trp Uncertain significance Single submitter
- NUP205 p.Arg1179Pro Uncertain significance Single submitter
- NUP205 p.Arg1615Gly Uncertain significance Single submitter
- NUP205 p.Arg1615His Uncertain significance Single submitter
- NUP205 p.Arg1617Cys Uncertain significance Single submitter
- NUP205 p.Arg2002Cys Uncertain significance Single submitter
- NUP205 p.Arg2002His Uncertain significance Single submitter
- NUP205 p.Arg390Leu Uncertain significance Single submitter
- NUP205 p.Arg413Trp Uncertain significance Single submitter
- NUP205 p.Arg615Cys Uncertain significance Single submitter
- NUP205 p.Asp1664Gly Uncertain significance Single submitter
- NUP205 p.Asp265His Uncertain significance Single submitter
- NUP205 p.Cys1627Phe Uncertain significance Single submitter
- NUP205 p.Cys224Arg Uncertain significance Single submitter
- NUP205 p.Cys954Arg Uncertain significance Single submitter
- NUP205 p.Gln930His Uncertain significance Single submitter
- NUP205 p.Glu1898Asp Uncertain significance Single submitter
- NUP205 p.Gly1337Arg Uncertain significance Single submitter
- NUP205 p.Gly1717Glu Uncertain significance Single submitter
- NUP205 p.Gly207Ser Uncertain significance Single submitter
- NUP205 p.Gly207Val Uncertain significance Single submitter
- NUP205 p.His905Arg Uncertain significance Single submitter
- NUP205 p.Ile919Ser Uncertain significance Single submitter
- NUP205 p.Leu1243Phe Uncertain significance Single submitter
- NUP205 p.Leu1441Ser Uncertain significance Single submitter
- NUP205 p.Leu1999Phe Uncertain significance Single submitter
- NUP205 p.Leu372Phe Uncertain significance Single submitter
- NUP205 p.Lys1871Asn Uncertain significance Single submitter
- NUP205 p.Lys18Ile Uncertain significance Single submitter
- NUP205 p.Lys859Thr Uncertain significance Single submitter
- NUP205 p.Met1117Thr Uncertain significance Single submitter
- NUP205 p.Met1768Lys Uncertain significance Single submitter
- NUP205 p.Met403Thr Uncertain significance Single submitter
-
NUP205 p.Phe1995Ser
Likely pathogenic
Single submitter
NUP205-related disorders
- NUP205 p.Phe382Leu Uncertain significance Single submitter
- NUP205 p.Pro1000Ala Uncertain significance Single submitter
- NUP205 p.Pro1253Leu Uncertain significance Single submitter
- NUP205 p.Pro1784Ser Uncertain significance Single submitter
- NUP205 p.Pro431Leu Uncertain significance Single submitter
- NUP205 p.Pro431Ser Uncertain significance Single submitter
- NUP205 p.Pro734Arg Uncertain significance Single submitter
- NUP205 p.Pro910Thr Uncertain significance Single submitter
- NUP205 p.Tyr1551Cys Uncertain significance Single submitter
- NUP205 p.Val1334Met Uncertain significance Single submitter
- NUP205 p.Val1524Asp Uncertain significance Single submitter
All NUP205 variants
Likely pathogenic 2
- p.Leu1110Pro Single submitter nephrotic syndrome, type 13
- p.Phe1995Ser Single submitter NUP205-related disorders ⚠
Conflicting classifications of pathogenicity 10
- c.488+5T>C Single submitter
- p.Ala1970Thr Single submitter ⚠
- p.Ala94Gly Single submitter ⚠
- p.Asn1019Ser Single submitter ⚠
- p.Asn1759Ser Single submitter ⚠
- p.Asn522Ser Single submitter ⚠
- p.Gln1628Arg Single submitter ⚠
- p.Gln737His Single submitter ⚠
- p.Phe1600Tyr Single submitter ⚠
- p.Pro164Ser Single submitter nephrotic syndrome, type 13 ⚠
Benign 113
- c.1042+72A>G Multiple submitters
- c.1218+82T>C Multiple submitters
- c.1219-53T>C Multiple submitters
- c.1624+137G>A Multiple submitters
- c.1625-109C>G Multiple submitters
- c.1625-19G>T Multiple submitters
- c.1625-88T>C Multiple submitters
- c.171+51C>T Multiple submitters
- c.2014-207C>T Multiple submitters
- c.2065-48A>G Multiple submitters
- c.2374+71T>C Multiple submitters
- c.28+190C>T Multiple submitters
- c.28+253T>G Multiple submitters
- c.29-27G>A Multiple submitters
- c.2905+27C>T Multiple submitters
- c.3195+160A>G Multiple submitters
- c.3196-49G>A Multiple submitters
- c.343+105C>A Multiple submitters
- c.3460+5G>C Multiple submitters
- c.3460+89T>C Multiple submitters
- c.4671+23T>C Multiple submitters
- c.4793+11G>A Multiple submitters nephrotic syndrome, type 13
- c.4793+58G>A Multiple submitters
- c.4794-149G>A Multiple submitters
- c.488+15T>C Multiple submitters
- c.489-28G>A Multiple submitters
- c.5137-15T>C Multiple submitters
- c.5265+13T>C Multiple submitters
- c.5265+46T>C Multiple submitters
- c.5392+145G>A Multiple submitters
- c.5392+41G>T Multiple submitters
- c.5393-87G>A Multiple submitters
- c.5559+148C>T Multiple submitters
- c.5559+4C>T Multiple submitters nephrotic syndrome, type 13
- c.5813-77C>A Multiple submitters
- c.648+12A>G Multiple submitters
- c.649-11T>C Multiple submitters nephrotic syndrome, type 13
- c.-5C>T Multiple submitters
- p.Ala1869= Multiple submitters
- p.Ala617= Multiple submitters nephrotic syndrome, type 13
- p.Asn1383= Multiple submitters
- p.Asn1969= Multiple submitters
- p.Gln1058= Multiple submitters
- p.Glu1356Gln Multiple submitters nephrotic syndrome, type 13
- p.Leu809= Multiple submitters
- p.Lys1013Asn Multiple submitters ⚠
- p.Met373Ile Multiple submitters
- p.Met373Thr Multiple submitters
- p.Val788= Multiple submitters
- c.1042+269C>T Single submitter
- c.1042+285_1042+286insCTT Single submitter
- c.1042+295_1042+296dup Single submitter
- c.1042+296dup Single submitter
- c.1473+200G>A Single submitter
- c.1473+322T>C Single submitter
- c.1474-195_1474-193dup Single submitter
- c.1474-325del Single submitter
- c.1625-20T>A Single submitter
- c.171+179del Single submitter
- c.171+227C>T Single submitter
- c.171+45del Single submitter
- c.2064+219A>G Single submitter
- c.2512+226C>G Single submitter
- c.2823+220T>C Single submitter
- c.2824-276del Single submitter
- c.29-153_29-152insGTTA Single submitter
- c.29-228_29-200dup Single submitter
- c.29-266T>A Single submitter
- c.2905+182A>G Single submitter
- c.3310+307G>A Single submitter
- c.343+197G>T Single submitter
- c.343+282A>G Single submitter
- c.3460+202A>G Single submitter
- c.3460+248T>C Single submitter
- c.3532+60del Single submitter
- c.3532+60dup Single submitter
- c.4330+194C>T Single submitter
- c.4331-232A>G Single submitter
- c.4671+102A>G Single submitter
- c.4672-128G>A Single submitter
- c.4793+220del Single submitter
- c.4793+252G>A Single submitter
- c.4793+57dup Single submitter
- c.4794-254C>G Single submitter
- c.488+168T>C Single submitter
- c.4932+17_4932+18dup Single submitter
- c.4933-37_4933-36dup Single submitter
- c.5059+140A>T Single submitter
- c.5060-9A>G Single submitter
- c.5265+235T>G Single submitter
- c.5266-125del Single submitter
- c.5266-125dup Single submitter
- c.5266-127_5266-125dup Single submitter
- c.5392+177C>A Single submitter
- c.5393-305T>A Single submitter
- c.5559+312del Single submitter
- c.5559+64_5559+65insGGTCT Single submitter
- c.5560-317A>C Single submitter
- c.5683+212T>C Single submitter
- c.5684-18A>T Single submitter
- c.5684-4A>G Single submitter
- c.5886+103G>A Single submitter
- c.5886+138T>C Single submitter
- c.5886+178dup Single submitter
- c.5887-124A>G Single submitter
- c.5887-328C>T Single submitter
- c.649-215T>C Single submitter
- c.*192dup Single submitter
- p.Glu1356= Single submitter
- p.Leu810= Single submitter
- p.Leu903= Single submitter
- p.Lys408= Single submitter
- p.Thr1594= Single submitter
Benign/Likely benign 21
- c.1219-16C>G Multiple submitters
- c.344-9C>G Multiple submitters
- c.4232-11A>C Multiple submitters
- c.*6C>T Multiple submitters
- p.Ala1003= Multiple submitters
- p.Ala1052= Multiple submitters
- p.Ala1336= Multiple submitters
- p.Ala1475= Multiple submitters nephrotic syndrome, type 13
- p.Asn367= Multiple submitters
- p.Gln1415= Multiple submitters
- p.Gly262= Multiple submitters
- p.Leu1144Val Multiple submitters
- p.Leu1186= Multiple submitters
- p.Leu202= Multiple submitters
- p.Leu505= Multiple submitters
- p.Phe1775= Multiple submitters
- p.Pro1795= Multiple submitters
- p.Pro4Leu Multiple submitters
- p.Ser263= Multiple submitters
- p.Thr606= Multiple submitters
- p.Val536= Multiple submitters
Likely benign 204
- c.1335+30C>G Multiple submitters
- c.1625-71A>G Multiple submitters
- c.171+59G>C Multiple submitters
- c.2275-134T>C Multiple submitters
- c.2275-39C>A Multiple submitters
- c.28+27T>C Multiple submitters
- c.28+292A>G Multiple submitters
- c.2824-12A>G Multiple submitters
- c.2906-49G>A Multiple submitters
- c.3196-101C>T Multiple submitters
- c.4671+55T>C Multiple submitters
- c.5136+72C>A Multiple submitters
- c.649-14G>A Multiple submitters
- p.Ala1328= Multiple submitters
- p.Asp733= Multiple submitters
- p.Gln635= Multiple submitters
- p.Ile1314Thr Multiple submitters ⚠
- p.Ile51= Multiple submitters
- p.Leu1901= Multiple submitters
- p.Pro1606= Multiple submitters
- p.Ser1285= Multiple submitters
- p.Ser1771Ile Multiple submitters
- p.Val377= Multiple submitters
- c.1218+11_1218+14del Single submitter
- c.1219-17_1219-14del Single submitter
- c.1219-9_1219-4del Single submitter
- c.1335+18_1335+21del Single submitter
- c.1335+20A>G Single submitter
- c.1473+19C>T Single submitter
- c.1474-223T>A Single submitter
- c.1624+18G>A Single submitter
- c.1625-277A>G Single submitter
- c.1625-7T>C Single submitter
- c.171+121C>A Single submitter
- c.171+179dup Single submitter
- c.172-141G>C Single submitter
- c.2013+106A>G Single submitter
- c.2014-18A>G Single submitter
- c.2064+18G>T Single submitter
- c.2065-12T>G Single submitter
- c.2275-205del Single submitter
- c.2275-4A>G Single submitter
- c.2275-9T>C Single submitter
- c.2374+16C>G Single submitter
- c.2375-8C>G Single submitter
- c.2513-4A>T Single submitter
- c.2702+100del Single submitter
- c.2702+18G>A Single submitter
- c.2703-18G>A Single submitter
- c.28+14G>C Single submitter
- c.28+20_28+23del Single submitter
- c.2823+19C>T Single submitter
- c.2824-10G>A Single submitter
- c.29-247ATATAA[3] Single submitter
- c.2905+13T>C Single submitter
- c.3071-5T>C Single submitter
- c.3195+17G>A Single submitter
- c.3196-262A>G Single submitter
- c.3311-208C>T Single submitter
- c.3311-293C>T Single submitter
- c.3311-69C>G Single submitter
- c.343+10C>T Single submitter
- c.343+17C>G Single submitter
- c.343+8G>A Single submitter
- c.3532+18T>C Single submitter
- c.3533-11A>T Single submitter
- c.3533-8A>G Single submitter
- c.3691-135A>G Single submitter
- c.3691-170A>G Single submitter
- c.3771+10A>G Single submitter
- c.3772-13C>T Single submitter
- c.3772-183C>T Single submitter
- c.3772-4T>A Single submitter
- c.3964-13C>T Single submitter
- c.4231+21C>G Single submitter
- c.4232-10A>T Single submitter
- c.4232-14_4232-11del Single submitter
- c.4232-4C>G Single submitter
- c.4330+10G>A Single submitter
- c.4330+15A>G Single submitter
- c.4331-11A>C Single submitter
- c.4479+10C>T Single submitter
- c.4479+9A>G Single submitter
- c.4672-10A>G Single submitter
- c.4672-15C>G Single submitter
- c.4672-176A>C Single submitter
- c.4672-188G>T Single submitter
- c.4794-289A>T Single submitter
- c.488+8T>C Single submitter
- c.489-13C>T Single submitter
- c.4932+122C>A Single submitter
- c.4933-11C>A Single submitter
- c.4933-5C>G Single submitter
- c.5059+13T>C Single submitter
- c.5265+13T>A Single submitter
- c.5266-128_5266-125dup Single submitter
- c.5392+13T>G Single submitter
- c.5393-200T>C Single submitter
- c.5393-7C>T Single submitter
- c.5559+7A>G Single submitter
- c.5559+8T>A Single submitter
- c.5560-10T>C Single submitter
- c.5560-20A>G Single submitter
- c.5887-20G>A Single submitter
- c.5887-6C>T Single submitter
- c.5887-9C>G Single submitter
- c.877+14T>A Single submitter
- p.Ala1120= Single submitter
- p.Ala1238= Single submitter
- p.Ala1296= Single submitter
- p.Ala1349= Single submitter
- p.Ala143= Single submitter
- p.Ala1432= Single submitter
- p.Ala1468= Single submitter
- p.Ala1998= Single submitter
- p.Ala2= Single submitter
- p.Ala660= Single submitter
- p.Ala725= Single submitter
- p.Ala797= Single submitter
- p.Arg1575= Single submitter
- p.Arg1949= Single submitter
- p.Asn1019= Single submitter
- p.Asn1184Ser Single submitter
- p.Asn1228= Single submitter
- p.Asn367Lys Single submitter
- p.Asp1154= Single submitter
- p.Asp1501= Single submitter
- p.Asp1798= Single submitter
- p.Asp1831= Single submitter
- p.Asp19= Single submitter
- p.Gln1957= Single submitter
- p.Gln871= Single submitter
- p.Glu1572Lys Single submitter
- p.Glu165= Single submitter
- p.Glu1672= Single submitter
- p.Glu1762= Single submitter
- p.Glu1983= Single submitter
- p.Glu230= Single submitter
- p.Glu812= Single submitter
- p.Glu88= Single submitter
- p.Gly1155= Single submitter
- p.Gly1474= Single submitter
- p.Gly25= Single submitter
- p.Gly339= Single submitter
- p.Gly447= Single submitter
- p.Gly523= Single submitter
- p.Gly74= Single submitter
- p.His1233= Single submitter
- p.His848= Single submitter
- p.Ile1954Val Single submitter
- p.Ile295= Single submitter
- p.Leu1006= Single submitter
- p.Leu1011= Single submitter
- p.Leu1037= Single submitter
- p.Leu111= Single submitter
- p.Leu13= Single submitter
- p.Leu1342= Single submitter
- p.Leu1497= Single submitter
- p.Leu1525= Single submitter
- p.Leu1574= Single submitter
- p.Leu1930= Single submitter
- p.Leu1936= Single submitter
- p.Leu349= Single submitter
- p.Leu362= Single submitter
- p.Leu461= Single submitter
- p.Leu650= Single submitter
- p.Lys1820= Single submitter
- p.Lys828= Single submitter
- p.Phe382= Single submitter
- p.Pro1596= Single submitter
- p.Pro487= Single submitter
- p.Pro626= Single submitter
- p.Ser1505= Single submitter
- p.Ser1653= Single submitter
- p.Ser227= Single submitter
- p.Ser718= Single submitter
- p.Thr1044= Single submitter
- p.Thr1174= Single submitter
- p.Thr1453= Single submitter
- p.Thr1594Met Single submitter
- p.Thr1611= Single submitter
- p.Thr1899= Single submitter
- p.Thr675= Single submitter
- p.Thr993= Single submitter
- p.Tyr1428Cys Single submitter
- p.Tyr184= Single submitter
- p.Tyr669= Single submitter
- p.Val1226= Single submitter
- p.Val1262Ile Single submitter
- p.Val1335= Single submitter
- p.Val1779= Single submitter
- p.Val482= Single submitter
- p.Val743= Single submitter
- p.Val75= Single submitter
- p.Val934= Single submitter
- c.4232-11_4232-10del No assertion criteria NUP205-related disorder
- c.5813-4C>G No assertion criteria NUP205-related disorder
- c.*7G>A No assertion criteria NUP205-related disorder
- p.Ala1623Ser No assertion criteria NUP205-related disorder
- p.Ala334= No assertion criteria NUP205-related disorder
- p.Ile1609= No assertion criteria NUP205-related disorder
- p.Ile307= No assertion criteria NUP205-related disorder
- p.Leu1980= No assertion criteria NUP205-related disorder
- p.Pro1148= No assertion criteria NUP205-related disorder
Uncertain significance 299
- p.Ala274Val Multiple submitters nephrotic syndrome, type 13 ⚠
- p.Ala2Val Multiple submitters nephrotic syndrome, type 13 ⚠
- p.Ala651Glu Multiple submitters ⚠
- p.Ala661Gly Multiple submitters ⚠
- p.Arg1179Cys Multiple submitters
- p.Arg1206Trp Multiple submitters ⚠
- p.Arg1534His Multiple submitters ⚠
- p.Arg1591His Multiple submitters ⚠
- p.Arg1661His Multiple submitters ⚠
- p.Arg965Cys Multiple submitters ⚠
- p.Asn1885Ser Multiple submitters ⚠
- p.Asn412Ser Multiple submitters ⚠
- p.Gln63His Multiple submitters ⚠
- p.Glu1194Gly Multiple submitters ⚠
- p.Gly1043Ala Multiple submitters ⚠
- p.Gly969Val Multiple submitters ⚠
- p.Ile1122Val Multiple submitters ⚠
- p.Ile1679Val Multiple submitters ⚠
- p.Ile1749Thr Multiple submitters nephrotic syndrome, type 13 ⚠
- p.Ile193Met Multiple submitters ⚠
- p.Ile923Thr Multiple submitters ⚠
- p.Ile987Met Multiple submitters nephrotic syndrome, type 13 ⚠
- p.Leu38Phe Multiple submitters ⚠
- p.Leu818Pro Multiple submitters nephrotic syndrome, type 13 ⚠
- p.Pro1544Thr Multiple submitters ⚠
- p.Thr257Lys Multiple submitters ⚠
- p.Thr604Met Multiple submitters ⚠
- p.Val1526Ile Multiple submitters ⚠
- c.1474-1G>T Single submitter
- c.2064+6G>A Single submitter
- c.2374+4A>G Single submitter
- c.3070+3A>G Single submitter
- c.4330+5A>G Single submitter
- c.4480-9T>G Single submitter
- c.4932+4dup Single submitter
- c.5559+5G>A Single submitter
- c.877+6G>T Single submitter
- p.Ala1035Thr Single submitter ⚠
- p.Ala1336Thr Single submitter ⚠
- p.Ala1444Gly Single submitter ⚠
- p.Ala1475Ser Single submitter ⚠
- p.Ala1623Gly Single submitter ⚠
- p.Ala1623Val Single submitter ⚠
- p.Ala1636Val Single submitter ⚠
- p.Ala1941Thr Single submitter ⚠
- p.Ala1965Asp Single submitter ⚠
- p.Ala1967Thr Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala334Ser Single submitter ⚠
- p.Ala358Val Single submitter ⚠
- p.Ala35Val Single submitter ⚠
- p.Ala684Gly Single submitter ⚠
- p.Ala851Val Single submitter ⚠
- p.Arg1030Trp Single submitter
- p.Arg1047Thr Single submitter ⚠
- p.Arg1133Gln Single submitter ⚠
- p.Arg1133Trp Single submitter ⚠
- p.Arg1179His Single submitter ⚠
- p.Arg1179Pro Single submitter ⚠
- p.Arg1206Gln Single submitter ⚠
- p.Arg1222Trp Single submitter ⚠
- p.Arg1234Lys Single submitter ⚠
- p.Arg1312Cys Single submitter ⚠
- p.Arg1483Gln Single submitter
- p.Arg1493Met Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg1591Cys Single submitter ⚠
- p.Arg1615Gly Single submitter ⚠
- p.Arg1615His Single submitter ⚠
- p.Arg1617Cys Single submitter ⚠
- p.Arg1661Cys Single submitter
- p.Arg1713His Single submitter
- p.Arg1729Cys Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg172Gly Single submitter ⚠
- p.Arg1796Trp Single submitter ⚠
- p.Arg1808Cys Single submitter ⚠
- p.Arg1878Cys Single submitter ⚠
- p.Arg1906Cys Single submitter
- p.Arg1906His Single submitter ⚠
- p.Arg1928Ser Single submitter ⚠
- p.Arg2002Cys Single submitter ⚠
- p.Arg2002His Single submitter ⚠
- p.Arg2004Cys Single submitter
- p.Arg2004His Single submitter ⚠
- p.Arg204Ter Single submitter
- p.Arg206Lys Single submitter ⚠
- p.Arg291Gln Single submitter ⚠
- p.Arg313His Single submitter ⚠
- p.Arg390Leu Single submitter ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg419Gln Single submitter
- p.Arg490Cys Single submitter
- p.Arg490His Single submitter ⚠
- p.Arg615Cys Single submitter ⚠
- p.Arg615Pro Single submitter ⚠
- p.Arg677Ser Single submitter ⚠
- p.Arg697Gln Single submitter ⚠
- p.Arg705Trp Single submitter
- p.Arg740Lys Single submitter ⚠
- p.Arg748His Single submitter ⚠
- p.Arg84Gly Single submitter ⚠
- p.Arg889Thr Single submitter ⚠
- p.Arg980Cys Single submitter ⚠
- p.Arg980His Single submitter ⚠
- p.Asn1130His Single submitter ⚠
- p.Asn1969Ser Single submitter ⚠
- p.Asn261Ser Single submitter ⚠
- p.Asn429Asp Single submitter ⚠
- p.Asp1145Val Single submitter
- p.Asp1325Tyr Single submitter ⚠
- p.Asp1664Gly Single submitter ⚠
- p.Asp1693Asn Single submitter ⚠
- p.Asp1736Gly Single submitter ⚠
- p.Asp265His Single submitter ⚠
- p.Asp293Ala Single submitter ⚠
- p.Asp831fs Single submitter
- p.Cys1585Tyr Single submitter ⚠
- p.Cys1627Phe Single submitter ⚠
- p.Cys224Arg Single submitter ⚠
- p.Cys954Arg Single submitter ⚠
- p.Gln1208His Single submitter ⚠
- p.Gln1224His Single submitter ⚠
- p.Gln1308Arg Single submitter ⚠
- p.Gln1348Arg Single submitter ⚠
- p.Gln1640Glu Single submitter ⚠
- p.Gln1647Glu Single submitter ⚠
- p.Gln1705Arg Single submitter ⚠
- p.Gln1870Arg Single submitter ⚠
- p.Gln1997His Single submitter ⚠
- p.Gln305His Single submitter ⚠
- p.Gln342His Single submitter ⚠
- p.Gln525Glu Single submitter ⚠
- p.Gln709Arg Single submitter ⚠
- p.Gln881Glu Single submitter ⚠
- p.Gln930His Single submitter ⚠
- p.Glu1326Lys Single submitter ⚠
- p.Glu1437Lys Single submitter ⚠
- p.Glu1748Gly Single submitter ⚠
- p.Glu1762Ala Single submitter ⚠
- p.Glu1762Lys Single submitter ⚠
- p.Glu1898Asp Single submitter ⚠
- p.Glu200Ala Single submitter ⚠
- p.Glu205Asp Single submitter ⚠
- p.Glu216Gln Single submitter ⚠
- p.Glu351Asp Single submitter ⚠
- p.Glu567Lys Single submitter ⚠
- p.Glu690Lys Single submitter nephrotic syndrome, type 13 ⚠
- p.Glu962Gly Single submitter ⚠
- p.Gly1337Arg Single submitter ⚠
- p.Gly15Ser Single submitter ⚠
- p.Gly1668Ala Single submitter ⚠
- p.Gly1717Glu Single submitter ⚠
- p.Gly1951Ala Single submitter ⚠
- p.Gly207Ser Single submitter ⚠
- p.Gly207Val Single submitter ⚠
- p.Gly428Val Single submitter
- p.Gly686Ser Single submitter ⚠
- p.Gly724Val Single submitter ⚠
- p.Gly79Ser Single submitter ⚠
- p.Gly969Glu Single submitter ⚠
- p.His441Arg Single submitter ⚠
- p.His621Tyr Single submitter ⚠
- p.His905Arg Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile1185Val Single submitter ⚠
- p.Ile1189Val Single submitter ⚠
- p.Ile1249Thr Single submitter ⚠
- p.Ile1249Val Single submitter ⚠
- p.Ile150Leu Single submitter ⚠
- p.Ile1659Val Single submitter ⚠
- p.Ile1756Met Single submitter ⚠
- p.Ile1896Leu Single submitter ⚠
- p.Ile1968Val Single submitter ⚠
- p.Ile20Val Single submitter ⚠
- p.Ile250Thr Single submitter ⚠
- p.Ile284Val Single submitter ⚠
- p.Ile545Thr Single submitter ⚠
- p.Ile685Val Single submitter ⚠
- p.Ile694Met Single submitter ⚠
- p.Ile919Ser Single submitter ⚠
- p.Leu1037Val Single submitter ⚠
- p.Leu1062Val Single submitter ⚠
- p.Leu1243Phe Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu1441Ser Single submitter ⚠
- p.Leu1539Ser Single submitter ⚠
- p.Leu1701Val Single submitter ⚠
- p.Leu1854Ser Single submitter ⚠
- p.Leu1892Phe Single submitter ⚠
- p.Leu1930Ter Single submitter nephrotic syndrome, type 13
- p.Leu1999Phe Single submitter ⚠
- p.Leu271Phe Single submitter ⚠
- p.Leu325His Single submitter ⚠
- p.Leu372Phe Single submitter ⚠
- p.Leu573Ile Single submitter ⚠
- p.Leu673Met Single submitter ⚠
- p.Leu714Val Single submitter ⚠
- p.Leu872Pro Single submitter ⚠
- p.Leu874Val Single submitter ⚠
- p.Lys1181Arg Single submitter ⚠
- p.Lys1402Asn Single submitter ⚠
- p.Lys1409Glu Single submitter ⚠
- p.Lys1565Arg Single submitter ⚠
- p.Lys1871Asn Single submitter ⚠
- p.Lys18Arg Single submitter ⚠
- p.Lys18Ile Single submitter ⚠
- p.Lys859Thr Single submitter ⚠
- p.Met1117Thr Single submitter ⚠
- p.Met1147Val Single submitter ⚠
- p.Met1256Thr Single submitter ⚠
- p.Met1448Val Single submitter ⚠
- p.Met1602Thr Single submitter ⚠
- p.Met169Val Single submitter ⚠
- p.Met1702Leu Single submitter ⚠
- p.Met1768Lys Single submitter ⚠
- p.Met273Thr Single submitter ⚠
- p.Met403Thr Single submitter ⚠
- p.Met405Val Single submitter ⚠
- p.Met420Ile Single submitter ⚠
- p.Phe1172Cys Single submitter ⚠
- p.Phe199Val Single submitter Marfanoid habitus and intellectual disability ⚠
- p.Phe382Leu Single submitter ⚠
- p.Phe50Tyr Single submitter
- p.Pro1000Ala Single submitter ⚠
- p.Pro1014Thr Single submitter ⚠
- p.Pro1023Ser Single submitter ⚠
- p.Pro1151Ser Single submitter ⚠
- p.Pro123Ala Single submitter ⚠
- p.Pro1253Leu Single submitter ⚠
- p.Pro1438Leu Single submitter ⚠
- p.Pro1596Leu Single submitter ⚠
- p.Pro1612Ser Single submitter ⚠
- p.Pro1784Ser Single submitter ⚠
- p.Pro1917Leu Single submitter ⚠
- p.Pro344Ser Single submitter ⚠
- p.Pro431Leu Single submitter ⚠
- p.Pro431Ser Single submitter ⚠
- p.Pro454Arg Single submitter ⚠
- p.Pro507Ala Single submitter ⚠
- p.Pro512Ser Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Pro702Leu Single submitter
- p.Pro734Arg Single submitter ⚠
- p.Pro910Thr Single submitter ⚠
- p.Ser1016Thr Single submitter ⚠
- p.Ser1108Cys Single submitter ⚠
- p.Ser1358Pro Single submitter ⚠
- p.Ser1424Thr Single submitter ⚠
- p.Ser1771Gly Single submitter ⚠
- p.Ser478Ala Single submitter ⚠
- p.Ser539Gly Single submitter ⚠
- p.Ser578Asn Single submitter ⚠
- p.Ser71Gly Single submitter ⚠
- p.Ser71Thr Single submitter ⚠
- p.Ser821Asn Single submitter ⚠
- p.Ser870Gly Single submitter ⚠
- p.Ser927Phe Single submitter ⚠
- p.Ser9Thr Single submitter ⚠
- p.Thr1018Ala Single submitter ⚠
- p.Thr1044Met Single submitter ⚠
- p.Thr1261Ser Single submitter ⚠
- p.Thr1341Ser Single submitter ⚠
- p.Thr1376Ile Single submitter ⚠
- p.Thr1440Ser Single submitter ⚠
- p.Thr1447Ala Single submitter ⚠
- p.Thr1632Pro Single submitter
- p.Thr1783Ile Single submitter ⚠
- p.Thr183Ile Single submitter ⚠
- p.Thr188Arg Single submitter ⚠
- p.Thr188Met Single submitter ⚠
- p.Thr1918Lys Single submitter ⚠
- p.Thr1918Met Single submitter ⚠
- p.Thr1929Ile Single submitter ⚠
- p.Thr606Ala Single submitter ⚠
- p.Thr670Ala Single submitter Marfanoid habitus and intellectual disability ⚠
- p.Tyr1068Cys Single submitter ⚠
- p.Tyr1397Cys Single submitter ⚠
- p.Tyr1551Cys Single submitter ⚠
- p.Tyr1830Cys Single submitter ⚠
- p.Tyr306Cys Single submitter ⚠
- p.Tyr752Cys Single submitter ⚠
- p.Tyr798Cys Single submitter ⚠
- p.Val1334Met Single submitter ⚠
- p.Val1350Ile Single submitter ⚠
- p.Val1506Leu Single submitter ⚠
- p.Val1506Met Single submitter ⚠
- p.Val1524Asp Single submitter ⚠
- p.Val1524Ile Single submitter ⚠
- p.Val1563Leu Single submitter ⚠
- p.Val1613Ala Single submitter ⚠
- p.Val2000Ile Single submitter ⚠
- p.Val36Phe Single submitter ⚠
- p.Val376Ala Single submitter ⚠
- p.Val627Ile Single submitter ⚠
- p.Val764Met Single submitter ⚠
- p.Val977Ile Single submitter ⚠
- p.Met427_Gly428delinsIleCys No assertion criteria
- p.Ser263Leu No assertion criteria