XPO5 — 432 ClinVar variants
All ClinVar germline XPO5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →
4 Conflicting · 74 Benign · 9 Benign/Likely benign · 174 Likely benign · 171 Uncertain significance
Full XPO5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 148
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 124
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- XPO5 p.Ala1027Val Uncertain significance Multiple submitters
-
XPO5 p.Ala462Ser
Uncertain significance
Multiple submitters
XPO5-related disorder
- XPO5 p.Ala778Val Uncertain significance Multiple submitters
- XPO5 p.Ala808Thr Uncertain significance Multiple submitters
- XPO5 p.Arg664His Uncertain significance Multiple submitters
- XPO5 p.Arg78Gln Uncertain significance Multiple submitters
- XPO5 p.Asn824Ser Uncertain significance Multiple submitters
- XPO5 p.Asn879Ser Uncertain significance Multiple submitters
- XPO5 p.Cys221Arg Uncertain significance Multiple submitters
- XPO5 p.Gln184Arg Uncertain significance Multiple submitters
- XPO5 p.Glu663Lys Uncertain significance Multiple submitters
- XPO5 p.Ile813Met Uncertain significance Multiple submitters
- XPO5 p.Lys396Asn Uncertain significance Multiple submitters
- XPO5 p.Met1008Val Uncertain significance Multiple submitters
- XPO5 p.Met402Val Uncertain significance Multiple submitters
- XPO5 p.Met998Ile Uncertain significance Multiple submitters
- XPO5 p.Thr209Ser Uncertain significance Multiple submitters
- XPO5 p.Thr754Ala Uncertain significance Multiple submitters
- XPO5 p.Tyr908Cys Uncertain significance Multiple submitters
- XPO5 p.Ala1037Val Uncertain significance Single submitter
- XPO5 p.Ala1066Thr Uncertain significance Single submitter
- XPO5 p.Ala217Ser Uncertain significance Single submitter
- XPO5 p.Ala217Val Uncertain significance Single submitter
- XPO5 p.Ala268Ser Uncertain significance Single submitter
- XPO5 p.Ala268Thr Uncertain significance Single submitter
- XPO5 p.Ala328Val Uncertain significance Single submitter
- XPO5 p.Ala462Gly Uncertain significance Single submitter
- XPO5 p.Ala778Gly Uncertain significance Single submitter
- XPO5 p.Ala788Thr Uncertain significance Single submitter
- XPO5 p.Ala793Pro Uncertain significance Single submitter
- XPO5 p.Ala808Val Uncertain significance Single submitter
- XPO5 p.Arg1046Lys Uncertain significance Single submitter
- XPO5 p.Arg762Cys Uncertain significance Single submitter
- XPO5 p.Arg838Cys Uncertain significance Single submitter
- XPO5 p.Arg838His Uncertain significance Single submitter
- XPO5 p.Arg84Gln Uncertain significance Single submitter
- XPO5 p.Asn202Ser Uncertain significance Single submitter
- XPO5 p.Asn433Ser Uncertain significance Single submitter
- XPO5 p.Asn529Ser Uncertain significance Single submitter
- XPO5 p.Asn555Asp Uncertain significance Single submitter
- XPO5 p.Asn555Thr Uncertain significance Single submitter
- XPO5 p.Asp1192Gly Uncertain significance Single submitter
- XPO5 p.Asp415Gly Uncertain significance Single submitter
- XPO5 p.Asp614Tyr Uncertain significance Single submitter
- XPO5 p.Asp995Glu Uncertain significance Single submitter
- XPO5 p.Cys1025Ser Uncertain significance Single submitter
- XPO5 p.Gln1139Pro Uncertain significance Single submitter
- XPO5 p.Gln1149His Uncertain significance Single submitter
- XPO5 p.Gln184His Uncertain significance Single submitter
- XPO5 p.Gln261Glu Uncertain significance Single submitter
- XPO5 p.Gln460His Uncertain significance Single submitter
- XPO5 p.Gln617His Uncertain significance Single submitter
- XPO5 p.Gln665Lys Uncertain significance Single submitter
- XPO5 p.Gln860Glu Uncertain significance Single submitter
- XPO5 p.Glu1010Lys Uncertain significance Single submitter
- XPO5 p.Glu996Lys Uncertain significance Single submitter
- XPO5 p.Gly1079Asp Uncertain significance Single submitter
- XPO5 p.Gly1195Trp Uncertain significance Single submitter
- XPO5 p.Gly146Arg Uncertain significance Single submitter
- XPO5 p.Gly224Glu Uncertain significance Single submitter
- XPO5 p.Gly266Glu Uncertain significance Single submitter
- XPO5 p.Gly338Ala Uncertain significance Single submitter
- XPO5 p.Gly338Val Uncertain significance Single submitter
- XPO5 p.His315Gln Uncertain significance Single submitter
- XPO5 p.His783Tyr Uncertain significance Single submitter
- XPO5 p.His985Pro Uncertain significance Single submitter
- XPO5 p.Ile105Val Uncertain significance Single submitter
- XPO5 p.Ile1111Met Uncertain significance Single submitter
- XPO5 p.Ile112Met Uncertain significance Single submitter
- XPO5 p.Ile1172Val Uncertain significance Single submitter
- XPO5 p.Ile189Leu Uncertain significance Single submitter
- XPO5 p.Ile273Val Uncertain significance Single submitter
- XPO5 p.Ile393Val Uncertain significance Single submitter
- XPO5 p.Ile532Thr Uncertain significance Single submitter
- XPO5 p.Ile813Val Uncertain significance Single submitter
- XPO5 p.Ile915Met Uncertain significance Single submitter
- XPO5 p.Ile98Met Uncertain significance Single submitter
- XPO5 p.Leu160Gln Uncertain significance Single submitter
- XPO5 p.Leu265Phe Uncertain significance Single submitter
- XPO5 p.Leu311Phe Uncertain significance Single submitter
- XPO5 p.Leu329Pro Uncertain significance Single submitter
- XPO5 p.Leu510Ser Uncertain significance Single submitter
- XPO5 p.Leu534Val Uncertain significance Single submitter
- XPO5 p.Leu626His Uncertain significance Single submitter
- XPO5 p.Leu773Phe Uncertain significance Single submitter
- XPO5 p.Leu792Arg Uncertain significance Single submitter
- XPO5 p.Leu820Val Uncertain significance Single submitter
- XPO5 p.Leu919Val Uncertain significance Single submitter
- XPO5 p.Lys1020Glu Uncertain significance Single submitter
- XPO5 p.Lys314Gln Uncertain significance Single submitter
-
XPO5 p.Met1082Lys
Uncertain significance
Single submitter
XPO5-related disorder
- XPO5 p.Met1090Val Uncertain significance Single submitter
- XPO5 p.Met1185Val Uncertain significance Single submitter
- XPO5 p.Met240Val Uncertain significance Single submitter
- XPO5 p.Met964Thr Uncertain significance Single submitter
- XPO5 p.Pro388Thr Uncertain significance Single submitter
- XPO5 p.Pro417Leu Uncertain significance Single submitter
- XPO5 p.Pro49Leu Uncertain significance Single submitter
- XPO5 p.Pro890Ser Uncertain significance Single submitter
- XPO5 p.Pro951Ser Uncertain significance Single submitter
- XPO5 p.Pro989Thr Uncertain significance Single submitter
- XPO5 p.Pro990Arg Uncertain significance Single submitter
- XPO5 p.Ser239Phe Uncertain significance Single submitter
- XPO5 p.Ser401Thr Uncertain significance Single submitter
- XPO5 p.Ser478Ala Uncertain significance Single submitter
- XPO5 p.Ser607Thr Uncertain significance Single submitter
- XPO5 p.Ser756Gly Uncertain significance Single submitter
- XPO5 p.Ser826Phe Uncertain significance Single submitter
- XPO5 p.Thr1026Ala Uncertain significance Single submitter
- XPO5 p.Thr1041Ser Uncertain significance Single submitter
- XPO5 p.Thr374Ile Uncertain significance Single submitter
- XPO5 p.Thr515Ile Uncertain significance Single submitter
- XPO5 p.Thr831Asn Uncertain significance Single submitter
- XPO5 p.Thr864Ser Uncertain significance Single submitter
- XPO5 p.Val164Ile Uncertain significance Single submitter
- XPO5 p.Val225Ile Uncertain significance Single submitter
- XPO5 p.Val317Ile Uncertain significance Single submitter
- XPO5 p.Val48Phe Uncertain significance Single submitter
- XPO5 p.Val501Met Uncertain significance Single submitter
- XPO5 p.Val552Ile Uncertain significance Single submitter
- XPO5 p.Val586Ile Uncertain significance Single submitter
- XPO5 p.Val732Leu Uncertain significance Single submitter
- XPO5 p.Val88Met Uncertain significance Single submitter
- XPO5 p.Val912Ala Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- XPO5 p.Arg967Gln Uncertain significance Multiple submitters
- XPO5 p.Met643Thr Uncertain significance Multiple submitters
- XPO5 p.Ala876Pro Uncertain significance Single submitter
- XPO5 p.Arg126Leu Uncertain significance Single submitter
- XPO5 p.Arg78Trp Uncertain significance Single submitter
- XPO5 p.Asn348Lys Uncertain significance Single submitter
- XPO5 p.Asp475Val Uncertain significance Single submitter
- XPO5 p.Cys551Gly Uncertain significance Single submitter
- XPO5 p.Gly752Cys Uncertain significance Single submitter
- XPO5 p.Gly917Arg Uncertain significance Single submitter
- XPO5 p.Leu326Ser Uncertain significance Single submitter
- XPO5 p.Lys645Asn Uncertain significance Single submitter
- XPO5 p.Phe799Leu Uncertain significance Single submitter
- XPO5 p.Pro395Gln Uncertain significance Single submitter
- XPO5 p.Ser212Phe Likely benign Single submitter
- XPO5 p.Thr754Ile Uncertain significance Single submitter
- XPO5 p.Trp737Ser Uncertain significance Single submitter
- XPO5 p.Tyr844Cys Uncertain significance Single submitter
- XPO5 p.Val630Gly Uncertain significance Single submitter
-
XPO5 p.Arg386Cys
Uncertain significance
No assertion criteria
XPO5-related disorder
All XPO5 variants
Conflicting classifications of pathogenicity 4
- p.Arg720Gln Single submitter ⚠
- p.Gly463Ala Single submitter ⚠
- p.Val495Ile Single submitter ⚠
- p.Val552Ala Single submitter ⚠
Benign 74
- p.Ala808= Multiple submitters
- p.Arg893= Multiple submitters
- p.Asp475= Multiple submitters
- p.Ser301= Multiple submitters
- p.Tyr1101= Multiple submitters
- c.105+219C>T Single submitter
- c.106-184G>A Single submitter
- c.106-223del Single submitter
- c.106-224_106-223insT Single submitter
- c.106-225_106-223del Single submitter
- c.106-228_106-223del Single submitter
- c.1095+14A>C Single submitter
- c.1095+220G>A Single submitter
- c.1096-149G>A Single submitter
- c.1222-25A>C Single submitter
- c.1222-265T>G Single submitter
- c.1312+209C>T Single submitter
- c.1312+71A>G Single submitter
- c.1572+223T>G Single submitter
- c.1728+178C>G Single submitter
- c.1770+104G>A Single submitter
- c.1861-16dup Single submitter
- c.1861-31A>G Single submitter
- c.2060+26C>T Single submitter
- c.2161-39del Single submitter
- c.2161-39dup Single submitter
- c.227+291C>T Single submitter
- c.228-211T>C Single submitter
- c.228-215C>T Single submitter
- c.228-262C>A Single submitter
- c.2342+262A>G Single submitter
- c.2343-107G>A Single submitter
- c.2343-89A>G Single submitter
- c.2343-9T>G Single submitter
- c.2443+64dup Single submitter
- c.2444-223del Single submitter
- c.2444-232A>G Single submitter
- c.2540+202A>G Single submitter
- c.2540+234_2540+235del Single submitter
- c.2540+267G>A Single submitter
- c.2541-111C>T Single submitter
- c.2677+265dup Single submitter
- c.2677+45T>C Single submitter
- c.2677+61del Single submitter
- c.2775+162A>G Single submitter
- c.2823-175G>C Single submitter
- c.2920+211C>T Single submitter
- c.2983+104= Single submitter
- c.2983+207T>C Single submitter
- c.2983+273G>A Single submitter
- c.3067-102G>A Single submitter
- c.3067-84dup Single submitter
- c.3312+15_3312+26dup Single submitter
- c.3312+16_3312+17dup Single submitter
- c.3312+98del Single submitter
- c.3477+118del Single submitter
- c.439-81del Single submitter
- c.621+169dup Single submitter
- c.621+188_621+190del Single submitter
- c.621+190del Single submitter
- c.621+31A>G Single submitter
- c.622-148G>A Single submitter
- c.622-265G>A Single submitter
- c.648+306C>T Single submitter
- c.648+47G>A Single submitter
- c.649-182T>C Single submitter
- c.649-264A>G Single submitter
- c.834+37C>T Single submitter
- c.911+91del Single submitter
- c.-71G>A Single submitter
- c.*165G>A Single submitter
- c.*271A>G Single submitter
- p.Thr831= Single submitter
- p.Val832Ile Single submitter
Benign/Likely benign 9
- c.1096-9del Multiple submitters
- c.2444-14G>C Multiple submitters
- c.2920+19C>T Multiple submitters
- c.3478-15A>C Multiple submitters
- c.438+16A>G Multiple submitters
- c.649-8T>C Multiple submitters
- p.Asp530Gly Multiple submitters
- p.Gly81Ser Multiple submitters
- p.Ser241Asn Multiple submitters
Likely benign 174
- c.1011+64T>C Multiple submitters
- c.1096-10T>C Multiple submitters
- c.1096-9dup Multiple submitters
- c.1312+11T>C Multiple submitters
- c.1313-38T>C Multiple submitters
- c.1729-98G>A Multiple submitters
- c.1860+128C>G Multiple submitters
- c.1860+132G>C Multiple submitters
- c.1861-191C>G Multiple submitters
- c.2678-206C>T Multiple submitters
- c.2920+277G>A Multiple submitters
- c.2921-176G>A Multiple submitters
- c.438+29A>G Multiple submitters
- p.Gln860= Multiple submitters
- p.Glu430= Multiple submitters
- p.Glu644= Multiple submitters
- p.Lys314= Multiple submitters
- p.Pro989= Multiple submitters
- p.Thr1047= Multiple submitters
- p.Thr1070= Multiple submitters
- p.Thr564= Multiple submitters
- p.Tyr662= Multiple submitters
- c.1011+10T>C Single submitter
- c.1011+7T>A Single submitter
- c.106-20A>G Single submitter
- c.106-223_106-222insAAT Single submitter
- c.106-223AT[11] Single submitter
- c.106-223AT[9] Single submitter
- c.106-224_106-221del Single submitter
- c.106-224_106-223del Single submitter
- c.106-224_106-223insTAT Single submitter
- c.106-226A>G Single submitter
- c.106-226A>T Single submitter
- c.106-227_106-223del Single submitter
- c.1095+9T>C Single submitter
- c.1312+15C>T Single submitter
- c.1312+193C>T Single submitter
- c.1313-298C>T Single submitter
- c.1442-21GT[5] Single submitter
- c.1442-21GT[6] Single submitter
- c.1442-21GT[8] Single submitter
- c.1442-23_1442-12dup Single submitter
- c.1442-23_1442-20del Single submitter
- c.1442-31_1442-8del Single submitter
- c.1572+118A>G Single submitter
- c.1572+19T>C Single submitter
- c.1573-281A>C Single submitter
- c.1728+10C>T Single submitter
- c.1729-12C>T Single submitter
- c.2060+19C>A Single submitter
- c.2161-202T>C Single submitter
- c.227+143C>T Single submitter
- c.227+8G>T Single submitter
- c.2342+9G>A Single submitter
- c.2343-246C>T Single submitter
- c.2343-57C>T Single submitter
- c.2443+10G>A Single submitter
- c.2443+11T>C Single submitter
- c.2443+14C>T Single submitter
- c.2443+345T>C Single submitter
- c.2444-14G>A Single submitter
- c.2444-189G>C Single submitter
- c.2444-4G>A Single submitter
- c.2540+8A>G Single submitter
- c.2540+9C>G Single submitter
- c.2541-5T>C Single submitter
- c.2677+169T>C Single submitter
- c.2677+265del Single submitter
- c.2677+303G>A Single submitter
- c.2678-12T>C Single submitter
- c.2776-12G>C Single submitter
- c.2822+16C>T Single submitter
- c.2822+17C>T Single submitter
- c.2823-80A>T Single submitter
- c.2920+15G>A Single submitter
- c.2921-15G>A Single submitter
- c.2921-221G>A Single submitter
- c.2921-6C>A Single submitter
- c.2983+7G>A Single submitter
- c.2983+9G>A Single submitter
- c.300+13T>G Single submitter
- c.301-205T>A Single submitter
- c.3175-12T>C Single submitter
- c.3312+17T>C Single submitter
- c.3312+18G>C Single submitter
- c.3312+18G>T Single submitter
- c.3313-13dup Single submitter
- c.3313-15C>G Single submitter
- c.3313-4T>A Single submitter
- c.3477+118dup Single submitter
- c.3477+11C>T Single submitter
- c.3477+164C>T Single submitter
- c.3477+19A>G Single submitter
- c.3478-20T>C Single submitter
- c.439-10A>G Single submitter
- c.439-16_439-15dup Single submitter
- c.439-6G>A Single submitter
- c.621+12C>T Single submitter
- c.621+171_621+172insC Single submitter
- c.621+204G>A Single submitter
- c.622-282C>T Single submitter
- c.648+15T>A Single submitter
- c.648+16A>G Single submitter
- c.649-17dup Single submitter
- c.835-10T>C Single submitter
- c.911+10T>G Single submitter
- c.911+187C>T Single submitter
- p.Ala1027= Single submitter
- p.Ala115Val Single submitter
- p.Ala227= Single submitter
- p.Ala302= Single submitter
- p.Ala505= Single submitter
- p.Ala746= Single submitter
- p.Arg175= Single submitter
- p.Arg386His Single submitter
- p.Arg423= Single submitter
- p.Arg78= Single submitter
- p.Asn110= Single submitter
- p.Asn195= Single submitter
- p.Asp1087= Single submitter
- p.Asp807= Single submitter
- p.Asp992= Single submitter
- p.Asp994= Single submitter
- p.Cys37= Single submitter
- p.Gln469= Single submitter
- p.Gln59= Single submitter
- p.Gly350Glu Single submitter
- p.His1086= Single submitter
- p.His111= Single submitter
- p.Ile883= Single submitter
- p.Leu1042= Single submitter
- p.Leu1072= Single submitter
- p.Leu1096= Single submitter
- p.Leu1134= Single submitter
- p.Leu1162= Single submitter
- p.Leu193= Single submitter
- p.Leu265= Single submitter
- p.Leu390= Single submitter
- p.Leu470= Single submitter
- p.Leu916= Single submitter
- p.Leu961= Single submitter
- p.Lys645= Single submitter
- p.Lys666= Single submitter
- p.Lys981Arg Single submitter
- p.Phe500= Single submitter
- p.Phe518= Single submitter
- p.Pro759= Single submitter
- p.Pro789= Single submitter
- p.Pro884= Single submitter
- p.Ser212Phe Single submitter ⚠
- p.Ser369= Single submitter
- p.Ser499= Single submitter
- p.Ser579= Single submitter
- p.Ser727= Single submitter
- p.Thr1031= Single submitter
- p.Thr18= Single submitter
- p.Thr196= Single submitter
- p.Thr520= Single submitter
- p.Thr594= Single submitter
- p.Thr842= Single submitter
- p.Tyr298= Single submitter
- p.Tyr397= Single submitter
- p.Val1024= Single submitter
- p.Val63Ile Single submitter
- p.Val725= Single submitter
- p.Val751= Single submitter
- c.2775+9T>G No assertion criteria XPO5-related disorder
- c.912-9del No assertion criteria XPO5-related disorder
- c.-5T>A No assertion criteria XPO5-related disorder
- p.Ala778= No assertion criteria XPO5-related disorder
- p.Asp774= No assertion criteria XPO5-related disorder
- p.Lys41= No assertion criteria XPO5-related disorder
- p.Ser1177= No assertion criteria XPO5-related disorder
- p.Tyr908= No assertion criteria XPO5-related disorder
Uncertain significance 171
- p.Ala1027Val Multiple submitters ⚠
- p.Ala462Ser Multiple submitters XPO5-related disorder ⚠
- p.Ala778Val Multiple submitters ⚠
- p.Ala808Thr Multiple submitters ⚠
- p.Arg664His Multiple submitters ⚠
- p.Arg78Gln Multiple submitters ⚠
- p.Arg967Gln Multiple submitters ⚠
- p.Asn824Ser Multiple submitters ⚠
- p.Asn879Ser Multiple submitters ⚠
- p.Cys221Arg Multiple submitters ⚠
- p.Gln184Arg Multiple submitters ⚠
- p.Glu663Lys Multiple submitters ⚠
- p.Ile813Met Multiple submitters ⚠
- p.Lys396Asn Multiple submitters ⚠
- p.Met1008Val Multiple submitters ⚠
- p.Met402Val Multiple submitters ⚠
- p.Met643Thr Multiple submitters ⚠
- p.Met998Ile Multiple submitters ⚠
- p.Thr209Ser Multiple submitters ⚠
- p.Thr754Ala Multiple submitters ⚠
- p.Tyr908Cys Multiple submitters ⚠
- c.1221+5A>G Single submitter
- c.1441+1G>C Single submitter
- c.1573-3C>T Single submitter XPO5-related disorder
- c.1729-16T>A Single submitter
- c.228-3C>T Single submitter
- c.2342+3G>A Single submitter
- c.2342+6T>G Single submitter
- c.2678-3C>T Single submitter
- c.300+6G>A Single submitter
- c.3066+6T>G Single submitter
- c.3313-3C>T Single submitter
- c.438+4T>C Single submitter
- c.621+2T>G Single submitter
- p.Ala1037Val Single submitter ⚠
- p.Ala1066Thr Single submitter ⚠
- p.Ala217Ser Single submitter ⚠
- p.Ala217Val Single submitter ⚠
- p.Ala268Ser Single submitter ⚠
- p.Ala268Thr Single submitter ⚠
- p.Ala328Val Single submitter ⚠
- p.Ala462Gly Single submitter ⚠
- p.Ala778Gly Single submitter ⚠
- p.Ala788Thr Single submitter ⚠
- p.Ala793Pro Single submitter ⚠
- p.Ala808Val Single submitter ⚠
- p.Ala876Pro Single submitter ⚠
- p.Arg1046Lys Single submitter ⚠
- p.Arg126Leu Single submitter ⚠
- p.Arg222Ter Single submitter
- p.Arg595Trp Single submitter
- p.Arg762Cys Single submitter ⚠
- p.Arg78Trp Single submitter ⚠
- p.Arg838Cys Single submitter ⚠
- p.Arg838His Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn202Ser Single submitter ⚠
- p.Asn348Lys Single submitter ⚠
- p.Asn433Ser Single submitter ⚠
- p.Asn529Ser Single submitter ⚠
- p.Asn555Asp Single submitter ⚠
- p.Asn555Thr Single submitter ⚠
- p.Asp1192Gly Single submitter ⚠
- p.Asp415Glu Single submitter
- p.Asp415Gly Single submitter ⚠
- p.Asp429Asn Single submitter
- p.Asp475Val Single submitter ⚠
- p.Asp614Tyr Single submitter ⚠
- p.Asp995Glu Single submitter ⚠
- p.Cys1025Ser Single submitter ⚠
- p.Cys493Tyr Single submitter
- p.Cys551Gly Single submitter ⚠
- p.Gln1139Pro Single submitter ⚠
- p.Gln1149His Single submitter ⚠
- p.Gln184His Single submitter ⚠
- p.Gln261Glu Single submitter ⚠
- p.Gln304= Single submitter
- p.Gln460His Single submitter ⚠
- p.Gln502Pro Single submitter
- p.Gln617His Single submitter ⚠
- p.Gln665Lys Single submitter ⚠
- p.Gln860Glu Single submitter ⚠
- p.Glu1010Lys Single submitter ⚠
- p.Glu996Lys Single submitter ⚠
- p.Gly1079Asp Single submitter ⚠
- p.Gly1195Trp Single submitter ⚠
- p.Gly146Arg Single submitter ⚠
- p.Gly224Glu Single submitter ⚠
- p.Gly266Glu Single submitter ⚠
- p.Gly330Ala Single submitter
- p.Gly338Ala Single submitter ⚠
- p.Gly338Val Single submitter ⚠
- p.Gly752Cys Single submitter ⚠
- p.Gly917Arg Single submitter ⚠
- p.His315Gln Single submitter ⚠
- p.His783Tyr Single submitter ⚠
- p.His985Pro Single submitter ⚠
- p.Ile105Val Single submitter ⚠
- p.Ile1111Met Single submitter ⚠
- p.Ile112Met Single submitter ⚠
- p.Ile1172Val Single submitter ⚠
- p.Ile189Leu Single submitter ⚠
- p.Ile273Thr Single submitter
- p.Ile273Val Single submitter ⚠
- p.Ile393Val Single submitter ⚠
- p.Ile394Thr Single submitter
- p.Ile532Thr Single submitter ⚠
- p.Ile813Val Single submitter ⚠
- p.Ile915Met Single submitter ⚠
- p.Ile98Met Single submitter ⚠
- p.Leu160Gln Single submitter ⚠
- p.Leu265Phe Single submitter ⚠
- p.Leu311Phe Single submitter ⚠
- p.Leu326Ser Single submitter ⚠
- p.Leu329Pro Single submitter ⚠
- p.Leu510Ser Single submitter ⚠
- p.Leu534Val Single submitter ⚠
- p.Leu626His Single submitter ⚠
- p.Leu648Val Single submitter
- p.Leu773Phe Single submitter ⚠
- p.Leu792Arg Single submitter ⚠
- p.Leu820Val Single submitter ⚠
- p.Leu919Val Single submitter ⚠
- p.Lys1020Glu Single submitter ⚠
- p.Lys314Gln Single submitter ⚠
- p.Lys645Asn Single submitter ⚠
- p.Met1082Lys Single submitter XPO5-related disorder ⚠
- p.Met1090Val Single submitter ⚠
- p.Met1185Val Single submitter ⚠
- p.Met240Val Single submitter ⚠
- p.Met964Thr Single submitter ⚠
- p.Phe799Leu Single submitter ⚠
- p.Pro388Thr Single submitter ⚠
- p.Pro395Gln Single submitter ⚠
- p.Pro417Leu Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Pro890Ser Single submitter ⚠
- p.Pro951Ser Single submitter ⚠
- p.Pro989Thr Single submitter ⚠
- p.Pro990Arg Single submitter ⚠
- p.Ser239Phe Single submitter ⚠
- p.Ser401Thr Single submitter ⚠
- p.Ser478Ala Single submitter ⚠
- p.Ser607Thr Single submitter ⚠
- p.Ser756Gly Single submitter ⚠
- p.Ser811fs Single submitter
- p.Ser826Phe Single submitter ⚠
- p.Thr1026Ala Single submitter ⚠
- p.Thr1041Ser Single submitter ⚠
- p.Thr148Arg Single submitter
- p.Thr150fs Single submitter
- p.Thr374Ile Single submitter ⚠
- p.Thr515Ile Single submitter ⚠
- p.Thr754Ile Single submitter ⚠
- p.Thr831Asn Single submitter ⚠
- p.Thr864Ser Single submitter ⚠
- p.Trp737Ser Single submitter ⚠
- p.Tyr316= Single submitter
- p.Tyr844Cys Single submitter ⚠
- p.Val164Ile Single submitter ⚠
- p.Val225Ile Single submitter ⚠
- p.Val317Ile Single submitter ⚠
- p.Val48Phe Single submitter ⚠
- p.Val501Met Single submitter ⚠
- p.Val552Ile Single submitter ⚠
- p.Val586Ile Single submitter ⚠
- p.Val630Gly Single submitter ⚠
- p.Val732Leu Single submitter ⚠
- p.Val88Met Single submitter ⚠
- p.Val912Ala Single submitter ⚠
- p.Arg386Cys No assertion criteria XPO5-related disorder ⚠