NUP188 — 403 ClinVar variants

All ClinVar germline NUP188 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 271 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 3 Conflicting · 18 Benign · 4 Benign/Likely benign · 72 Likely benign · 287 Uncertain significance

Full NUP188 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 271

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 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

NUP188 p.Arg1668Gln Conflicting Single submitter
NUP188-related disorder
NUP188 p.Leu1304Val Conflicting Single submitter
sandestig-stefanova syndrome

Predictors lean, ClinVar uncertain 211

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 211

NUP188 p.Ala3Val Uncertain significance Multiple submitters
Inborn genetic diseases
NUP188 p.Arg1274Trp Uncertain significance Multiple submitters
Inborn genetic diseases
NUP188 p.Arg634Cys Uncertain significance Multiple submitters
NUP188-related disorder
NUP188 p.Ile1663Leu Uncertain significance Multiple submitters
NUP188 p.Ile783Val Uncertain significance Multiple submitters
Inborn genetic diseases
NUP188 p.Thr359Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NUP188 p.Trp1010Cys Uncertain significance Multiple submitters
sandestig-stefanova syndrome
NUP188 p.Ala1204Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala1352Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala1449Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala185Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala297Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala412Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala58Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala660Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala682Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala853Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1071His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1130Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1154Cys Uncertain significance Single submitter
NUP188 p.Arg1168Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1250Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1250His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1272Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1272Trp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1274Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1279Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1279His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1308His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1345Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1345His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1385Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1412His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1429Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1475Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1475His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1495Gln Uncertain significance Single submitter
NUP188 p.Arg14Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1517Gln Uncertain significance Single submitter
NUP188 p.Arg1517Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg155Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1566Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg202His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg330Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg330His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg360Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg360Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg41Trp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg452Gln Uncertain significance Single submitter
sandestig-stefanova syndrome
NUP188 p.Arg495Trp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg512Cys Uncertain significance Single submitter
NUP188 p.Arg599Trp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg624Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg624His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg685Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg685His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg797Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg982Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn1151Asp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn1414Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn1504Asp Uncertain significance Single submitter
NUP188 p.Asn1504Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn1619Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn250Ser Uncertain significance Single submitter
NUP188 p.Asn334Lys Uncertain significance Single submitter
NUP188 p.Asn475Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn625Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn669Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asn850Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asp1061Glu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asp1578Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asp255Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asp405Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asp632Asn Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Cys1488Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Cys303Tyr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Cys562Arg Uncertain significance Single submitter
NUP188 p.Cys585Phe Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Cys9Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Cys9Tyr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln1197Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln1579Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln242Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln351His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln651Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln839Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln91His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gln969Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu1200Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu1266Asp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu1298Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu1418Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu166Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu178Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu241Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu45Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu676Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gly1077Glu Uncertain significance Single submitter
NUP188 p.Gly1256Asp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gly1300Asp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gly1355Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.His1469Tyr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.His191Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.His294Tyr Uncertain significance Single submitter
NUP188 p.His442Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.His863Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile1120Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile1477Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile217Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile265Met Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile316Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile350Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile513Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile559Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile611Met Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile681Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile780Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile825Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile852Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile909Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile966Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ile985Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu1343Met Uncertain significance Single submitter
NUP188 p.Leu1555Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu1650Phe Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu1715Phe Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu450Met Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu580Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu666Phe Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu666Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu737Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu744Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Lys1065Gln Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Lys164Ile Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met1326Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met1401Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met1747Ile Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met213Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met379Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met522Ile Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met658Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met668Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1381Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1391Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1511Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1522Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1677Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1710His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1716Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1718Leu Uncertain significance Single submitter
sandestig-stefanova syndrome

Predictors split 58

The independent predictors disagree with each other — read with care.

NUP188 p.Asp1578Glu Benign/Likely benign Multiple submitters
NUP188 p.Ala1666Val Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ala58Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1071Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1130Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg1704Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg198Ser Likely benign Single submitter
Inborn genetic diseases
NUP188 p.Arg27Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg531Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg877Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg877Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Arg913Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asp149Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Asp864Tyr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Cys889Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu1428Lys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu157Asp Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Glu838Gly Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gly438Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Gly931Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.His551Leu Uncertain significance Single submitter
NUP188 p.Leu112Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu1144Phe Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu1337Met Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu1364Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu21Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu502Phe Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu667Phe Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Leu695Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Lys470Glu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Lys720Asn Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Met548Ile Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Phe1009Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Phe1207Ile Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Phe641Ile Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1183Thr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro153Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro1673Leu Uncertain significance Single submitter
NUP188-related disorder
NUP188 p.Pro417Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro626Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Pro977Ser Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ser1126Tyr Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ser1368Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ser1580Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Ser581Pro Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Thr1561Met Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Thr406Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Thr680Ala Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Thr923Ile Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Trp1170Cys Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Trp1393Arg Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Trp1466Leu Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Trp203Cys Uncertain significance Single submitter
NUP188 p.Tyr723His Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Val1206Ala Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Val691Ala Uncertain significance Single submitter
NUP188 p.Val814Ala Uncertain significance Single submitter
Inborn genetic diseases
NUP188 p.Val814Leu Uncertain significance Single submitter
Inborn genetic diseases

All NUP188 variants

Pathogenic 8

p.Arg291fs Single submitter
p.Arg42Ter Single submitter
p.Gln674Ter Single submitter
p.Ile302fs Single submitter sandestig-stefanova syndrome
p.Arg1678fs No assertion criteria sandestig-stefanova syndrome
p.Gln1360Ter No assertion criteria sandestig-stefanova syndrome
p.Trp630Ter No assertion criteria sandestig-stefanova syndrome
p.Tyr1048Ter No assertion criteria NUP188-related disorder

Pathogenic/Likely pathogenic 1

p.Ser1126fs Multiple submitters sandestig-stefanova syndrome

Likely pathogenic 10

c.1516+1G>T Single submitter
c.2533+23_2533+51del Single submitter sandestig-stefanova syndrome
c.3515+1G>A Single submitter microcephaly
c.4509+1G>T Single submitter sandestig-stefanova syndrome
p.Cys617fs Single submitter microcephaly
p.Gln113Ter Single submitter sandestig-stefanova syndrome
p.Leu837fs Single submitter
p.Ser1368fs Single submitter sandestig-stefanova syndrome
p.Thr1342fs No assertion criteria sandestig-stefanova syndrome
p.Tyr858Ter No assertion criteria NUP188-related disorder

Conflicting classifications of pathogenicity 3

p.Arg1668Gln Single submitter NUP188-related disorder ⚠
p.Leu1304Val Single submitter sandestig-stefanova syndrome ⚠
p.Leu29= Single submitter Inborn genetic diseases

Benign 18

c.1203+31T>C Multiple submitters sandestig-stefanova syndrome
c.1797-24T>C Multiple submitters sandestig-stefanova syndrome
c.3516-14A>G Multiple submitters sandestig-stefanova syndrome
c.3662-4A>G Multiple submitters sandestig-stefanova syndrome
c.4044+6A>C Multiple submitters sandestig-stefanova syndrome
p.Ser1532= Multiple submitters sandestig-stefanova syndrome
p.Thr390= Multiple submitters
p.Ala1087= Single submitter
p.Glu1260Asp Single submitter
c.2640+10T>C No assertion criteria NUP188-related disorder
c.3088-10A>G No assertion criteria NUP188-related disorder
c.4509+7G>A No assertion criteria NUP188-related disorder
c.5074-5T>C No assertion criteria NUP188-related disorder
p.His152= No assertion criteria NUP188-related disorder
p.His741= No assertion criteria NUP188-related disorder
p.Ile279= No assertion criteria NUP188-related disorder
p.Leu979= No assertion criteria NUP188-related disorder
p.Thr1693= No assertion criteria NUP188-related disorder

Benign/Likely benign 4

c.2393+6G>T Multiple submitters
p.Arg1325His Multiple submitters
p.Asp1578Glu Multiple submitters ⚠
p.Thr1062= Multiple submitters

Likely benign 72

p.Ala1525Val Multiple submitters Inborn genetic diseases
p.Ala297= Multiple submitters
p.Arg1129His Multiple submitters Inborn genetic diseases
p.Asn64Asp Multiple submitters Inborn genetic diseases
p.His1085= Multiple submitters
p.Tyr478His Multiple submitters Inborn genetic diseases
p.Val262Ile Multiple submitters Inborn genetic diseases
c.1204-17T>A Single submitter
c.2640+19C>A Single submitter
c.32+11G>A Single submitter
c.3661+8G>C Single submitter
c.4138-17T>C Single submitter
c.4435-11G>C Single submitter
c.465+10T>C Single submitter
c.585+11A>T Single submitter
p.Ala1106= Single submitter
p.Ala1254= Single submitter
p.Ala1419Val Single submitter
p.Ala1449= Single submitter
p.Ala1536Thr Single submitter Inborn genetic diseases
p.Ala1546= Single submitter
p.Ala1634= Single submitter
p.Ala817= Single submitter
p.Ala895Thr Single submitter Inborn genetic diseases
p.Arg1520= Single submitter
p.Arg1703= Single submitter
p.Arg198Ser Single submitter Inborn genetic diseases ⚠
p.Arg624= Single submitter
p.Asn1587Lys Single submitter
p.Asp1280Gly Single submitter
p.Asp1571= Single submitter
p.Asp402Gly Single submitter
p.Cys380= Single submitter
p.Glu1099= Single submitter
p.Glu275= Single submitter
p.Gly6Ala Single submitter Inborn genetic diseases
p.His142= Single submitter
p.Ile1068= Single submitter
p.Ile1477= Single submitter
p.Leu1045= Single submitter
p.Leu1132= Single submitter
p.Leu1230= Single submitter
p.Leu1339= Single submitter
p.Leu1420= Single submitter
p.Leu411= Single submitter
p.Leu523= Single submitter
p.Leu666= Single submitter
p.Met1747Leu Single submitter
p.Pro1535= Single submitter
p.Pro229= Single submitter
p.Pro335= Single submitter
p.Ser1638= Single submitter
p.Ser581= Single submitter
p.Ser945= Single submitter
p.Thr1346Ala Single submitter
p.Thr689= Single submitter
p.Tyr1552Cys Single submitter
p.Tyr860= Single submitter
p.Val1675= Single submitter
p.Val274= Single submitter
p.Val521= Single submitter
c.2264+5T>C No assertion criteria NUP188-related disorder
c.4737+4C>T No assertion criteria NUP188-related disorder
c.4738-3C>T No assertion criteria NUP188-related disorder
p.Asn1375= No assertion criteria NUP188-related disorder
p.Leu1457= No assertion criteria NUP188-related disorder
p.Leu1698= No assertion criteria NUP188-related disorder
p.Leu587= No assertion criteria NUP188-related disorder
p.Ser1208= No assertion criteria NUP188-related disorder
p.Thr1359= No assertion criteria NUP188-related disorder
p.Thr698= No assertion criteria NUP188-related disorder
p.Val205Ala No assertion criteria NUP188-related disorder

Uncertain significance 287

p.Ala3Val Multiple submitters Inborn genetic diseases ⚠
p.Arg1274Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg634Cys Multiple submitters NUP188-related disorder ⚠
p.Ile1663Leu Multiple submitters ⚠
p.Ile783Val Multiple submitters Inborn genetic diseases ⚠
p.Thr359Ser Multiple submitters Inborn genetic diseases ⚠
p.Trp1010Cys Multiple submitters sandestig-stefanova syndrome ⚠
c.4510-1G>T Single submitter
c.4737+5T>G Single submitter Inborn genetic diseases
c.585+5G>A Single submitter Inborn genetic diseases
p.Ala1204Thr Single submitter Inborn genetic diseases ⚠
p.Ala1352Gly Single submitter Inborn genetic diseases ⚠
p.Ala1449Val Single submitter Inborn genetic diseases ⚠
p.Ala1666Val Single submitter Inborn genetic diseases ⚠
p.Ala185Thr Single submitter Inborn genetic diseases ⚠
p.Ala297Val Single submitter Inborn genetic diseases ⚠
p.Ala412Val Single submitter Inborn genetic diseases ⚠
p.Ala58Gly Single submitter Inborn genetic diseases ⚠
p.Ala58Pro Single submitter Inborn genetic diseases ⚠
p.Ala660Val Single submitter Inborn genetic diseases ⚠
p.Ala682Gly Single submitter Inborn genetic diseases ⚠
p.Ala853Thr Single submitter Inborn genetic diseases ⚠
p.Arg1071Cys Single submitter Inborn genetic diseases ⚠
p.Arg1071His Single submitter Inborn genetic diseases ⚠
p.Arg1130Cys Single submitter Inborn genetic diseases ⚠
p.Arg1130Pro Single submitter Inborn genetic diseases ⚠
p.Arg1154Cys Single submitter ⚠
p.Arg1168Gln Single submitter Inborn genetic diseases ⚠
p.Arg1250Cys Single submitter Inborn genetic diseases ⚠
p.Arg1250His Single submitter Inborn genetic diseases ⚠
p.Arg1272Gln Single submitter Inborn genetic diseases ⚠
p.Arg1272Trp Single submitter Inborn genetic diseases ⚠
p.Arg1274Gln Single submitter Inborn genetic diseases ⚠
p.Arg1279Cys Single submitter Inborn genetic diseases ⚠
p.Arg1279His Single submitter Inborn genetic diseases ⚠
p.Arg1308His Single submitter Inborn genetic diseases ⚠
p.Arg1345Cys Single submitter Inborn genetic diseases ⚠
p.Arg1345His Single submitter Inborn genetic diseases ⚠
p.Arg1385Gln Single submitter Inborn genetic diseases ⚠
p.Arg1412His Single submitter Inborn genetic diseases ⚠
p.Arg1429Gln Single submitter Inborn genetic diseases ⚠
p.Arg1475Cys Single submitter Inborn genetic diseases ⚠
p.Arg1475His Single submitter Inborn genetic diseases ⚠
p.Arg1495Gln Single submitter ⚠
p.Arg14Lys Single submitter Inborn genetic diseases ⚠
p.Arg1517Gln Single submitter ⚠
p.Arg1517Leu Single submitter Inborn genetic diseases ⚠
p.Arg155Gly Single submitter Inborn genetic diseases ⚠
p.Arg1566Cys Single submitter Inborn genetic diseases ⚠
p.Arg1704Leu Single submitter Inborn genetic diseases ⚠
p.Arg202His Single submitter Inborn genetic diseases ⚠
p.Arg27Ser Single submitter Inborn genetic diseases ⚠
p.Arg330Cys Single submitter Inborn genetic diseases ⚠
p.Arg330His Single submitter Inborn genetic diseases ⚠
p.Arg360Gln Single submitter Inborn genetic diseases ⚠
p.Arg360Leu Single submitter Inborn genetic diseases ⚠
p.Arg41Trp Single submitter Inborn genetic diseases ⚠
p.Arg452Gln Single submitter sandestig-stefanova syndrome ⚠
p.Arg495Trp Single submitter Inborn genetic diseases ⚠
p.Arg512Cys Single submitter ⚠
p.Arg531Cys Single submitter Inborn genetic diseases ⚠
p.Arg599Trp Single submitter Inborn genetic diseases ⚠
p.Arg624Cys Single submitter Inborn genetic diseases ⚠
p.Arg624His Single submitter Inborn genetic diseases ⚠
p.Arg685Cys Single submitter Inborn genetic diseases ⚠
p.Arg685His Single submitter Inborn genetic diseases ⚠
p.Arg722His Single submitter Inborn genetic diseases
p.Arg797Gln Single submitter Inborn genetic diseases ⚠
p.Arg826Gln Single submitter Inborn genetic diseases
p.Arg877Cys Single submitter Inborn genetic diseases ⚠
p.Arg877Leu Single submitter Inborn genetic diseases ⚠
p.Arg913Cys Single submitter Inborn genetic diseases ⚠
p.Arg982Cys Single submitter Inborn genetic diseases ⚠
p.Arg982His Single submitter Inborn genetic diseases
p.Asn1151Asp Single submitter Inborn genetic diseases ⚠
p.Asn1414Ser Single submitter Inborn genetic diseases ⚠
p.Asn1504Asp Single submitter ⚠
p.Asn1504Ser Single submitter Inborn genetic diseases ⚠
p.Asn1619Ser Single submitter Inborn genetic diseases ⚠
p.Asn250Ser Single submitter ⚠
p.Asn334Lys Single submitter ⚠
p.Asn475Ser Single submitter Inborn genetic diseases ⚠
p.Asn625Ser Single submitter Inborn genetic diseases ⚠
p.Asn669Lys Single submitter Inborn genetic diseases ⚠
p.Asn850Thr Single submitter Inborn genetic diseases ⚠
p.Asp1061Glu Single submitter Inborn genetic diseases ⚠
p.Asp149Gly Single submitter Inborn genetic diseases ⚠
p.Asp1578Gly Single submitter Inborn genetic diseases ⚠
p.Asp255Gly Single submitter Inborn genetic diseases ⚠
p.Asp405Gly Single submitter Inborn genetic diseases ⚠
p.Asp632Asn Single submitter Inborn genetic diseases ⚠
p.Asp864Tyr Single submitter Inborn genetic diseases ⚠
p.Cys1488Arg Single submitter Inborn genetic diseases ⚠
p.Cys303Tyr Single submitter Inborn genetic diseases ⚠
p.Cys562Arg Single submitter ⚠
p.Cys585Phe Single submitter Inborn genetic diseases ⚠
p.Cys889Ser Single submitter Inborn genetic diseases ⚠
p.Cys9Gly Single submitter Inborn genetic diseases ⚠
p.Cys9Tyr Single submitter Inborn genetic diseases ⚠
p.Gln1197Lys Single submitter Inborn genetic diseases ⚠
p.Gln1579Arg Single submitter Inborn genetic diseases ⚠
p.Gln242Lys Single submitter Inborn genetic diseases ⚠
p.Gln351His Single submitter Inborn genetic diseases ⚠
p.Gln651Arg Single submitter Inborn genetic diseases ⚠
p.Gln839Arg Single submitter Inborn genetic diseases ⚠
p.Gln91His Single submitter Inborn genetic diseases ⚠
p.Gln969Lys Single submitter Inborn genetic diseases ⚠
p.Glu1200Lys Single submitter Inborn genetic diseases ⚠
p.Glu1266Asp Single submitter Inborn genetic diseases ⚠
p.Glu1298Lys Single submitter Inborn genetic diseases ⚠
p.Glu1321Ala Single submitter Inborn genetic diseases
p.Glu1418Lys Single submitter Inborn genetic diseases ⚠
p.Glu1428Lys Single submitter Inborn genetic diseases ⚠
p.Glu157Asp Single submitter Inborn genetic diseases ⚠
p.Glu166Gln Single submitter Inborn genetic diseases ⚠
p.Glu178Lys Single submitter Inborn genetic diseases ⚠
p.Glu241Gly Single submitter Inborn genetic diseases ⚠
p.Glu45Lys Single submitter Inborn genetic diseases ⚠
p.Glu676Lys Single submitter Inborn genetic diseases ⚠
p.Glu772Gly Single submitter Inborn genetic diseases
p.Glu838Gly Single submitter Inborn genetic diseases ⚠
p.Gly1077Glu Single submitter ⚠
p.Gly1256Asp Single submitter Inborn genetic diseases ⚠
p.Gly1300Asp Single submitter Inborn genetic diseases ⚠
p.Gly1355Arg Single submitter Inborn genetic diseases ⚠
p.Gly266Ser Single submitter Inborn genetic diseases
p.Gly438Arg Single submitter Inborn genetic diseases ⚠
p.Gly782Val Single submitter Inborn genetic diseases
p.Gly931Ser Single submitter Inborn genetic diseases ⚠
p.His1469Tyr Single submitter Inborn genetic diseases ⚠
p.His1493Arg Single submitter Inborn genetic diseases
p.His191Arg Single submitter Inborn genetic diseases ⚠
p.His294Tyr Single submitter ⚠
p.His442Arg Single submitter Inborn genetic diseases ⚠
p.His551Leu Single submitter ⚠
p.His863Arg Single submitter Inborn genetic diseases ⚠
p.Ile1120Thr Single submitter Inborn genetic diseases ⚠
p.Ile1477Thr Single submitter Inborn genetic diseases ⚠
p.Ile217Val Single submitter Inborn genetic diseases ⚠
p.Ile265Met Single submitter Inborn genetic diseases ⚠
p.Ile316Thr Single submitter Inborn genetic diseases ⚠
p.Ile350Val Single submitter Inborn genetic diseases ⚠
p.Ile513Leu Single submitter Inborn genetic diseases ⚠
p.Ile559Ser Single submitter Inborn genetic diseases ⚠
p.Ile611Met Single submitter Inborn genetic diseases ⚠
p.Ile681Leu Single submitter Inborn genetic diseases ⚠
p.Ile780Val Single submitter Inborn genetic diseases ⚠
p.Ile825Val Single submitter Inborn genetic diseases ⚠
p.Ile852Val Single submitter Inborn genetic diseases ⚠
p.Ile909Thr Single submitter Inborn genetic diseases ⚠
p.Ile966Val Single submitter Inborn genetic diseases ⚠
p.Ile985Val Single submitter Inborn genetic diseases ⚠
p.Leu112Pro Single submitter Inborn genetic diseases ⚠
p.Leu1144Phe Single submitter Inborn genetic diseases ⚠
p.Leu1337Met Single submitter Inborn genetic diseases ⚠
p.Leu1343Met Single submitter ⚠
p.Leu1364Ser Single submitter Inborn genetic diseases ⚠
p.Leu1555Pro Single submitter Inborn genetic diseases ⚠
p.Leu1650Phe Single submitter Inborn genetic diseases ⚠
p.Leu1715Phe Single submitter Inborn genetic diseases ⚠
p.Leu21Pro Single submitter Inborn genetic diseases ⚠
p.Leu450Met Single submitter Inborn genetic diseases ⚠
p.Leu502Phe Single submitter Inborn genetic diseases ⚠
p.Leu580Val Single submitter Inborn genetic diseases ⚠
p.Leu666Phe Single submitter Inborn genetic diseases ⚠
p.Leu666Val Single submitter Inborn genetic diseases ⚠
p.Leu667Phe Single submitter Inborn genetic diseases ⚠
p.Leu695Arg Single submitter Inborn genetic diseases ⚠
p.Leu737Ser Single submitter Inborn genetic diseases ⚠
p.Leu744Pro Single submitter Inborn genetic diseases ⚠
p.Lys1065Gln Single submitter Inborn genetic diseases ⚠
p.Lys1220= Single submitter
p.Lys164Ile Single submitter Inborn genetic diseases ⚠
p.Lys470Glu Single submitter Inborn genetic diseases ⚠
p.Lys720Asn Single submitter Inborn genetic diseases ⚠
p.Met1326Thr Single submitter Inborn genetic diseases ⚠
p.Met1401Val Single submitter Inborn genetic diseases ⚠
p.Met1747Ile Single submitter Inborn genetic diseases ⚠
p.Met213Val Single submitter Inborn genetic diseases ⚠
p.Met379Thr Single submitter Inborn genetic diseases ⚠
p.Met522Ile Single submitter Inborn genetic diseases ⚠
p.Met548Ile Single submitter Inborn genetic diseases ⚠
p.Met658Lys Single submitter Inborn genetic diseases ⚠
p.Met668Thr Single submitter Inborn genetic diseases ⚠
p.Phe1009Leu Single submitter Inborn genetic diseases ⚠
p.Phe1207Ile Single submitter Inborn genetic diseases ⚠
p.Phe641Ile Single submitter Inborn genetic diseases ⚠
p.Pro1183Thr Single submitter Inborn genetic diseases ⚠
p.Pro1381Thr Single submitter Inborn genetic diseases ⚠
p.Pro1391Ser Single submitter Inborn genetic diseases ⚠
p.Pro1511Leu Single submitter Inborn genetic diseases ⚠
p.Pro1522Leu Single submitter Inborn genetic diseases ⚠
p.Pro153Leu Single submitter Inborn genetic diseases ⚠
p.Pro1673Leu Single submitter NUP188-related disorder ⚠
p.Pro1677Leu Single submitter Inborn genetic diseases ⚠
p.Pro1710His Single submitter Inborn genetic diseases ⚠
p.Pro1716Leu Single submitter Inborn genetic diseases ⚠
p.Pro1718Leu Single submitter sandestig-stefanova syndrome ⚠
p.Pro414Ala Single submitter Inborn genetic diseases ⚠
p.Pro414Ser Single submitter Inborn genetic diseases ⚠
p.Pro417Leu Single submitter Inborn genetic diseases ⚠
p.Pro514Leu Single submitter
p.Pro626Ser Single submitter Inborn genetic diseases ⚠
p.Pro645Leu Single submitter Inborn genetic diseases ⚠
p.Pro830del Single submitter Inborn genetic diseases
p.Pro8Arg Single submitter Inborn genetic diseases ⚠
p.Pro8Leu Single submitter Inborn genetic diseases ⚠
p.Pro977Ser Single submitter Inborn genetic diseases ⚠
p.Ser1022Phe Single submitter Inborn genetic diseases ⚠
p.Ser1093Asn Single submitter Inborn genetic diseases ⚠
p.Ser1126Tyr Single submitter Inborn genetic diseases ⚠
p.Ser1264Thr Single submitter Inborn genetic diseases ⚠
p.Ser1323Arg Single submitter Inborn genetic diseases ⚠
p.Ser1368Arg Single submitter Inborn genetic diseases ⚠
p.Ser1368Gly Single submitter Inborn genetic diseases ⚠
p.Ser1384Cys Single submitter Inborn genetic diseases ⚠
p.Ser13Gly Single submitter Inborn genetic diseases ⚠
p.Ser1526Cys Single submitter Inborn genetic diseases ⚠
p.Ser1580Pro Single submitter Inborn genetic diseases ⚠
p.Ser1638Arg Single submitter Inborn genetic diseases ⚠
p.Ser1709Pro Single submitter Inborn genetic diseases ⚠
p.Ser230Arg Single submitter Inborn genetic diseases ⚠
p.Ser246Asn Single submitter Inborn genetic diseases ⚠
p.Ser339Gly Single submitter Inborn genetic diseases ⚠
p.Ser340Asn Single submitter Inborn genetic diseases ⚠
p.Ser386Phe Single submitter Inborn genetic diseases ⚠
p.Ser391Leu Single submitter Inborn genetic diseases ⚠
p.Ser445Tyr Single submitter Inborn genetic diseases ⚠
p.Ser466Gly Single submitter Inborn genetic diseases ⚠
p.Ser56Thr Single submitter Inborn genetic diseases ⚠
p.Ser581Pro Single submitter Inborn genetic diseases ⚠
p.Ser670Asn Single submitter Inborn genetic diseases ⚠
p.Thr1014Ser Single submitter Inborn genetic diseases ⚠
p.Thr1089Ala Single submitter Inborn genetic diseases ⚠
p.Thr110Ala Single submitter ⚠
p.Thr1202Asn Single submitter Inborn genetic diseases ⚠
p.Thr1259Lys Single submitter Inborn genetic diseases ⚠
p.Thr1315Ser Single submitter Inborn genetic diseases ⚠
p.Thr1319Ala Single submitter Inborn genetic diseases ⚠
p.Thr1561Met Single submitter Inborn genetic diseases ⚠
p.Thr1596Ile Single submitter Inborn genetic diseases ⚠
p.Thr1644Ile Single submitter Inborn genetic diseases ⚠
p.Thr390Ser Single submitter Inborn genetic diseases ⚠
p.Thr396Ala Single submitter Inborn genetic diseases ⚠
p.Thr406Arg Single submitter Inborn genetic diseases ⚠
p.Thr423Arg Single submitter Inborn genetic diseases ⚠
p.Thr509Ser Single submitter Inborn genetic diseases ⚠
p.Thr601Met Single submitter Inborn genetic diseases ⚠
p.Thr680Ala Single submitter Inborn genetic diseases ⚠
p.Thr757Ser Single submitter Inborn genetic diseases ⚠
p.Thr776Ser Single submitter Inborn genetic diseases ⚠
p.Thr813Pro Single submitter Inborn genetic diseases ⚠
p.Thr880Met Single submitter Inborn genetic diseases ⚠
p.Thr923Ile Single submitter Inborn genetic diseases ⚠
p.Trp1170Cys Single submitter Inborn genetic diseases ⚠
p.Trp1393Arg Single submitter Inborn genetic diseases ⚠
p.Trp1466Leu Single submitter Inborn genetic diseases ⚠
p.Trp203Cys Single submitter ⚠
p.Tyr1049His Single submitter Inborn genetic diseases ⚠
p.Tyr1074Cys Single submitter Inborn genetic diseases
p.Tyr1100Asp Single submitter Inborn genetic diseases ⚠
p.Tyr1483Cys Single submitter Inborn genetic diseases ⚠
p.Tyr1701Cys Single submitter Inborn genetic diseases ⚠
p.Tyr50Cys Single submitter Inborn genetic diseases
p.Tyr663Phe Single submitter Inborn genetic diseases ⚠
p.Tyr723His Single submitter Inborn genetic diseases ⚠
p.Tyr96Ter Single submitter sandestig-stefanova syndrome
p.Val1050Ile Single submitter Inborn genetic diseases ⚠
p.Val1079Ile Single submitter Inborn genetic diseases ⚠
p.Val1206Ala Single submitter Inborn genetic diseases ⚠
p.Val1296Ile Single submitter Inborn genetic diseases ⚠
p.Val1322Ala Single submitter Inborn genetic diseases ⚠
p.Val1453Met Single submitter Inborn genetic diseases ⚠
p.Val1614Met Single submitter Inborn genetic diseases ⚠
p.Val200Met Single submitter Inborn genetic diseases ⚠
p.Val234Leu Single submitter Inborn genetic diseases ⚠
p.Val341Met Single submitter Inborn genetic diseases ⚠
p.Val553Ile Single submitter Inborn genetic diseases ⚠
p.Val691Ala Single submitter ⚠
p.Val785Met Single submitter Inborn genetic diseases
p.Val814Ala Single submitter Inborn genetic diseases ⚠
p.Val814Leu Single submitter Inborn genetic diseases ⚠
p.Val814Met Single submitter
p.Val833Met Single submitter Inborn genetic diseases ⚠
p.Val926Ile Single submitter Inborn genetic diseases ⚠
p.Val941Ile Single submitter Inborn genetic diseases ⚠
c.3429+5G>A No assertion criteria NUP188-related disorder